Variant report

Variant	esv3408307
Chromosome Location	chr6:31855223-31857721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr6:31856264-31856568	GM12878	blood:	n/a	n/a
2	BCL3	chr6:31856309-31856682	GM12878	blood:	n/a	n/a
3	BRCA1	chr6:31856730-31856836	HepG2	liver:	n/a	n/a
4	CTCF	chr6:31856623-31856790	SK-N-SH_RA	brain:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
5	CTCF	chr6:31857060-31857210	WI-38	lung:	n/a	chr6:31857156-31857165 chr6:31857156-31857169
6	CTCF	chr6:31856514-31856889	K562	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856579-31856588 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
7	CTCF	chr6:31856640-31856790	HCFaa	heart:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
8	CTCF	chr6:31856620-31856770	HFF-Myc	foreskin:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
9	CTCF	chr6:31856626-31856829	GM13976	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
10	CTCF	chr6:31856680-31856830	GM12865	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
11	CTCF	chr6:31856640-31856790	GM12869	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
12	CTCF	chr6:31856601-31856839	T-47D	breast:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
13	CTCF	chr6:31856640-31856790	HepG2	liver:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
14	CTCF	chr6:31857120-31857270	HRPEpiC	eye:	n/a	chr6:31857156-31857165 chr6:31857156-31857169
15	CTCF	chr6:31856680-31856830	HUVEC	blood vessel:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
16	CTCF	chr6:31856660-31856810	GM12868	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
17	CTCF	chr6:31856377-31856496	GM19240	blood:	n/a	n/a
18	CTCF	chr6:31856640-31856790	K562	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
19	CTCF	chr6:31856383-31856484	Fibrobl	skin:	n/a	n/a
20	CTCF	chr6:31856584-31856947	A549	lung:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
21	CTCF	chr6:31856660-31856810	K562	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
22	CTCF	chr6:31857240-31857390	HPF	lung:	n/a	n/a
23	CTCF	chr6:31856640-31856790	GM12864	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
24	CTCF	chr6:31856362-31857101	A549	lung:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856579-31856588 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
25	CTCF	chr6:31856640-31856790	NHLF	lung:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
26	CTCF	chr6:31856620-31856770	HVMF	connective:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
27	CTCF	chr6:31856640-31856790	HMEC	breast:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
28	CTCF	chr6:31856538-31856921	GM12878	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856579-31856588 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
29	CTCF	chr6:31856620-31856770	HCM	heart:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
30	CTCF	chr6:31856660-31856810	HA-sp	spinal cord:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
31	CTCF	chr6:31856567-31856892	K562	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856579-31856588 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
32	CTCF	chr6:31856599-31856872	LNCaP	prostate:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
33	CTCF	chr6:31856640-31856790	AG09309	skin:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
34	CTCF	chr6:31856917-31857048	GM13977	blood:	n/a	n/a
35	CTCF	chr6:31856467-31856974	MCF-7	breast:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856579-31856588 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
36	CTCF	chr6:31856640-31856790	AG09319	gingival:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
37	CTCF	chr6:31856640-31856790	NHDF-neo	bronchial:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
38	CTCF	chr6:31856640-31856790	GM12865	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
39	CTCF	chr6:31856620-31856770	HFF	foreskin:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
40	CTCF	chr6:31856620-31856770	Caco-2	colon:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
41	CTCF	chr6:31856599-31856860	SK-N-SH_RA	brain:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
42	CTCF	chr6:31856640-31856790	GM12874	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
43	CTCF	chr6:31856369-31856471	GM19239	blood:	n/a	n/a
44	CTCF	chr6:31856660-31856810	AG09319	gingival:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
45	CTCF	chr6:31856411-31856429	GM10248	blood:	n/a	n/a
46	CTCF	chr6:31856586-31856859	H1-hESC	embryonic stem cell:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
47	CTCF	chr6:31856640-31856790	HEEpiC	esophagus:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
48	CTCF	chr6:31856620-31856770	GM12865	blood:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
49	CTCF	chr6:31856600-31856750	HAc	cerebellar:	n/a	chr6:31856698-31856719 chr6:31856704-31856720 chr6:31856703-31856721 chr6:31856709-31856718 chr6:31856706-31856716
50	CTCF	chr6:31856460-31856710	A549	lung:	n/a	chr6:31856579-31856588

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31856329-31856379	MCF10A-Er-Src	breast:	n/a
2	chr6:31856289-31856339	NHBE	bronchial:	n/a
3	chr6:31856329-31856379	MCF10A-Er-Src	breast:	n/a
4	chr6:31856289-31856339	NHBE	bronchial:	n/a
5	chr6:31856329-31856379	AG04450	lung:	fetal
6	chr6:31856431-31856481	HEK293	kidney:	embryo
7	chr6:31855269-31855319	A549	lung:	n/a
8	chr6:31856367-31856417	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:31856329-31856379	AG09319	gingival:	n/a
10	chr6:31855709-31855759	HEEpiC	esophagus:	n/a
11	chr6:31855702-31855752	NHDF-neo	bronchial:	n/a
12	chr6:31856329-31856379	Jurkat	blood:	n/a
13	chr6:31855702-31855752	GM06990	blood:	n/a
14	chr6:31856010-31856060	HRPEpiC	eye:	n/a
15	chr6:31857100-31857150	HIPEpiC	eye:	n/a
16	chr6:31855269-31855319	HAEpiC	amniotic membrane:	n/a
17	chr6:31855695-31855745	K562	blood:	n/a
18	chr6:31856488-31856538	HCT-116	colon:	n/a
19	chr6:31855709-31855759	SK-N-SH_RA	brain:	n/a
20	chr6:31855598-31855648	PFSK-1	brain:	n/a
21	chr6:31855381-31855431	CMK	blood:	n/a
22	chr6:31856022-31856072	IMR90	lung:	fetal
23	chr6:31856488-31856538	GM12878	blood:	n/a
24	chr6:31857100-31857150	GM06990	blood:	n/a
25	chr6:31855702-31855752	PrEC	prostate:	n/a
26	chr6:31857100-31857150	MCF-7	breast:	n/a
27	chr6:31855269-31855319	IMR90	lung:	fetal
28	chr6:31856706-31856756	AG09319	gingival:	n/a
29	chr6:31856431-31856481	GM19239	blood:	n/a
30	chr6:31855381-31855431	IMR90	lung:	fetal
31	chr6:31856749-31856799	AG09319	gingival:	n/a
32	chr6:31856381-31856431	HCT-116	colon:	n/a
33	chr6:31855422-31855472	GM12878	blood:	n/a
34	chr6:31856706-31856756	HCT-116	colon:	n/a
35	chr6:31856923-31856973	HEEpiC	esophagus:	n/a
36	chr6:31857040-31857090	K562	blood:	n/a
37	chr6:31855498-31855548	HRPEpiC	eye:	n/a
38	chr6:31855202-31855252	GM12891	blood:	n/a
39	chr6:31856367-31856417	H1-hESC	embryonic stem cell:	embryo
40	chr6:31857034-31857084	PrEC	prostate:	n/a
41	chr6:31856289-31856339	GM12892	blood:	n/a
42	chr6:31856193-31856243	AG09309	skin:	n/a
43	chr6:31856193-31856243	RPTEC	kidney:	n/a
44	chr6:31857034-31857084	HNPCEpiC	eye:	n/a
45	chr6:31857007-31857057	NHBE	bronchial:	n/a
46	chr6:31856193-31856243	SAEC	small airway:	n/a
47	chr6:31856193-31856243	GM06990	blood:	n/a
48	chr6:31856189-31856239	GM06990	blood:	n/a
49	chr6:31856329-31856379	CMK	blood:	n/a
50	chr6:31857100-31857150	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr6:31841958..31846970-chr6:31854324..31857490,7	K562	blood:
2	chr6:31828758..31831666-chr6:31853611..31856072,2	MCF-7	breast:
3	chr6:31804657..31807471-chr6:31855620..31857968,2	MCF-7	breast:
4	chr6:31846098..31848960-chr6:31854978..31859156,6	MCF-7	breast:
5	chr6:31812854..31815463-chr6:31856420..31858260,2	K562	blood:
6	chr6:31854976..31856626-chr6:31937568..31939787,2	K562	blood:
7	chr6:31855517..31859490-chr6:31863708..31867145,7	MCF-7	breast:
8	chr6:31856075..31861147-chr6:31862978..31867521,9	K562	blood:
9	chr6:31852573..31855279-chr6:31859068..31861656,3	MCF-7	breast:
10	chr6:31848956..31852953-chr6:31854836..31857628,4	MCF-7	breast:
11	chr6:31773019..31775696-chr6:31855640..31857620,2	K562	blood:
12	chr6:31705330..31707246-chr6:31857378..31858935,2	K562	blood:
13	chr6:31856732..31859729-chr6:31888389..31891218,2	MCF-7	breast:
14	chr6:31854115..31856826-chr6:31913867..31915528,2	MCF-7	breast:
15	chr6:31831274..31833961-chr6:31853684..31856241,2	K562	blood:
16	chr6:31854355..31857404-chr6:31857986..31862400,4	K562	blood:
17	chr6:31762216..31763831-chr6:31854405..31856951,2	MCF-7	breast:
18	chr6:31831381..31833026-chr6:31853931..31855819,2	K562	blood:
19	chr6:31796169..31798718-chr6:31855458..31858224,2	MCF-7	breast:
20	chr6:31632509..31634236-chr6:31853959..31856343,2	K562	blood:
21	chr6:31801370..31804964-chr6:31855214..31859141,7	MCF-7	breast:

Variant related genes	Relation type
EHMT2	TF binding region
EHMT2	CpG island
ENSG00000204387	chromatin interactions
ENSG00000201823	chromatin interactions
ENSG00000204385	chromatin interactions
ENSG00000204371	chromatin interactions
ENSG00000166278	chromatin interactions
ENSG00000204392	chromatin interactions
ENSG00000204438	chromatin interactions
ENSG00000204386	chromatin interactions
ENSG00000204394	chromatin interactions
ENSG00000243649	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000204435	chromatin interactions
ENSG00000263020	chromatin interactions
ENSG00000201754	chromatin interactions
ENSG00000204344	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186820891	chr6:31855294-31855295	Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs369554647	chr6:31855343-31855344	Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs537409290	chr6:31855394-31855395	Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs372809002	chr6:31855451-31855452	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs142196219	chr6:31855452-31855453	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs73728991	chr6:31855457-31855458	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368874100	chr6:31855458-31855459	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs568670709	chr6:31855499-31855500	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs541397184	chr6:31855504-31855505	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs139866894	chr6:31855522-31855523	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs541833233	chr6:31855540-31855541	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs147034415	chr6:31855564-31855565	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs142606173	chr6:31855606-31855607	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs376225175	chr6:31855611-31855612	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs143349295	chr6:31855615-31855616	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs542732963	chr6:31855646-31855647	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs560922093	chr6:31855660-31855661	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs148339816	chr6:31855706-31855707	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs556346012	chr6:31855709-31855710	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs141683580	chr6:31855727-31855728	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs150547961	chr6:31855728-31855729	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs9394077	chr6:31855752-31855753	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs564742012	chr6:31855753-31855754	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs565112979	chr6:31855826-31855827	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs377425688	chr6:31855837-31855838	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs373435582	chr6:31855844-31855845	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs367631364	chr6:31855872-31855873	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs377615321	chr6:31855876-31855877	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs547336061	chr6:31855879-31855880	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs565531085	chr6:31855888-31855889	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs141566932	chr6:31855889-31855890	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs547985022	chr6:31855907-31855908	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs146176576	chr6:31855914-31855915	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs570109888	chr6:31855915-31855916	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs111556716	chr6:31855937-31855938	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs371095878	chr6:31856022-31856023	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs139432784	chr6:31856023-31856024	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs486416	chr6:31856070-31856071	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs368474169	chr6:31856091-31856092	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs199820755	chr6:31856092-31856093	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs370545486	chr6:31856134-31856135	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs144132028	chr6:31856140-31856141	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs535329893	chr6:31856141-31856142	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs553740212	chr6:31856144-31856145	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs148652525	chr6:31856164-31856165	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs142165631	chr6:31856194-31856195	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs542395278	chr6:31856196-31856197	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs113973079	chr6:31856212-31856213	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs374202005	chr6:31856228-31856229	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs576052029	chr6:31856270-31856271	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31832000-31856000	Weak transcription	Right Atrium	heart
2	chr6:31833200-31864200	Weak transcription	Fetal Heart	heart
3	chr6:31847000-31857800	Strong transcription	Osteobl	bone
4	chr6:31847000-31860800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:31847000-31863200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:31847000-31863600	Strong transcription	Fetal Brain Female	brain
7	chr6:31847000-31864000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:31847200-31857600	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr6:31847200-31860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:31847200-31861400	Strong transcription	Spleen	Spleen
11	chr6:31847200-31863800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:31847200-31864000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:31847200-31864200	Strong transcription	Fetal Stomach	stomach
14	chr6:31847200-31864200	Strong transcription	Thymus	Thymus
15	chr6:31847400-31856200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:31847400-31857400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:31847400-31857600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:31847400-31857600	Strong transcription	Right Ventricle	heart
19	chr6:31847400-31858000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:31847400-31858000	Strong transcription	Lung	lung
21	chr6:31847400-31858200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr6:31847400-31858200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:31847400-31858200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr6:31847400-31860400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:31847400-31860800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:31847400-31861200	Strong transcription	Esophagus	oesophagus
27	chr6:31847400-31861600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:31847400-31861600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:31847400-31861600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:31847400-31861600	Strong transcription	Brain Anterior Caudate	brain
31	chr6:31847400-31861600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr6:31847400-31862800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:31847400-31863200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:31847400-31863200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:31847400-31863400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:31847400-31863600	Strong transcription	Brain Germinal Matrix	brain
37	chr6:31847400-31863800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:31847400-31863800	Strong transcription	Primary T cells from cord blood	blood
39	chr6:31847400-31863800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:31847400-31864000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr6:31847400-31864000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:31847400-31864000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:31847400-31864000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:31847400-31864000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:31847400-31864000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:31847400-31864000	Strong transcription	Adipose Nuclei	Adipose
47	chr6:31847400-31864000	Strong transcription	Fetal Thymus	thymus
48	chr6:31847400-31864200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:31847400-31864200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:31847400-31864200	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links