Variant report

Variant	nsv876791
Chromosome Location	chr3:52269491-52286825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1760)
CpG islands
(count:1711)
Chromatin interactive
region (count:51)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1760 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:52274626-52275065	K562	blood:	n/a	n/a
2	ATF2	chr3:52277941-52279552	GM12878	blood:	n/a	n/a
3	ATF2	chr3:52273246-52273781	GM12878	blood:	n/a	n/a
4	ATF2	chr3:52278011-52279283	GM12878	blood:	n/a	n/a
5	ATF2	chr3:52273057-52273611	GM12878	blood:	n/a	n/a
6	ATF2	chr3:52274427-52274931	GM12878	blood:	n/a	n/a
7	ATF3	chr3:52274546-52274964	K562	blood:	n/a	n/a
8	BACH1	chr3:52273115-52273728	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:52279457-52280156	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:52272366-52272559	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:52271651-52271695	K562	blood:	n/a	n/a
12	BATF	chr3:52278845-52279274	GM12878	blood:	n/a	n/a
13	BATF	chr3:52277944-52278754	GM12878	blood:	n/a	chr3:52278229-52278239
14	BATF	chr3:52278012-52278689	GM12878	blood:	n/a	chr3:52278229-52278239
15	BCL11A	chr3:52278754-52279258	GM12878	blood:	n/a	chr3:52279034-52279043
16	BCL11A	chr3:52278102-52278653	GM12878	blood:	n/a	chr3:52278231-52278240
17	BCL11A	chr3:52277999-52278749	GM12878	blood:	n/a	chr3:52278231-52278240
18	BCL11A	chr3:52278790-52279124	GM12878	blood:	n/a	chr3:52279034-52279043
19	BCL3	chr3:52273157-52273557	A549	lung:	n/a	n/a
20	BCL3	chr3:52278017-52278711	GM12878	blood:	n/a	chr3:52278231-52278240
21	BCLAF1	chr3:52272918-52273816	GM12878	blood:	n/a	n/a
22	BCLAF1	chr3:52277887-52278679	GM12878	blood:	n/a	chr3:52278231-52278240
23	BCLAF1	chr3:52277959-52279346	GM12878	blood:	n/a	chr3:52278231-52278240 chr3:52279034-52279043
24	BCLAF1	chr3:52278801-52279600	GM12878	blood:	n/a	chr3:52279034-52279043
25	BHLHE40	chr3:52273075-52273710	K562	blood:	n/a	n/a
26	BHLHE40	chr3:52273064-52273760	GM12878	blood:	n/a	n/a
27	BHLHE40	chr3:52271625-52271920	K562	blood:	n/a	n/a
28	BHLHE40	chr3:52274058-52274312	K562	blood:	n/a	n/a
29	BHLHE40	chr3:52272489-52272845	GM12878	blood:	n/a	n/a
30	BHLHE40	chr3:52274611-52275124	K562	blood:	n/a	n/a
31	BHLHE40	chr3:52272515-52272675	K562	blood:	n/a	n/a
32	BHLHE40	chr3:52274707-52274780	HepG2	liver:	n/a	n/a
33	BHLHE40	chr3:52279827-52280178	HepG2	liver:	n/a	chr3:52279883-52279899
34	BHLHE40	chr3:52279896-52280096	A549	lung:	n/a	n/a
35	BHLHE40	chr3:52278137-52280324	GM12878	blood:	n/a	chr3:52279883-52279899
36	BHLHE40	chr3:52279820-52280192	K562	blood:	n/a	chr3:52279883-52279899
37	BRCA1	chr3:52279107-52279162	GM12878	blood:	n/a	n/a
38	BRCA1	chr3:52280602-52280605	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr3:52271510-52271938	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr3:52277512-52277707	K562	blood:	n/a	n/a
41	CBX3	chr3:52277461-52277851	K562	blood:	n/a	n/a
42	CCNT2	chr3:52271648-52271887	K562	blood:	n/a	n/a
43	CCNT2	chr3:52272954-52273642	K562	blood:	n/a	chr3:52273188-52273197
44	CCNT2	chr3:52274696-52274988	K562	blood:	n/a	n/a
45	CCNT2	chr3:52279514-52280141	K562	blood:	n/a	chr3:52279685-52279694 chr3:52280077-52280086
46	CEBPB	chr3:52278344-52278757	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr3:52274540-52274940	K562	blood:	n/a	n/a
48	CEBPB	chr3:52274193-52275165	IMR90	lung:	n/a	n/a
49	CEBPB	chr3:52278416-52278726	IMR90	lung:	n/a	n/a
50	CEBPB	chr3:52274309-52274843	HepG2	liver:	n/a	n/a

(count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52274051-52274101	AG04450	lung:	fetal
2	chr3:52271331-52271381	LNCaP	prostate:	n/a
3	chr3:52272690-52272740	PrEC	prostate:	n/a
4	chr3:52274051-52274101	AG04450	lung:	fetal
5	chr3:52271331-52271381	LNCaP	prostate:	n/a
6	chr3:52272690-52272740	PrEC	prostate:	n/a
7	chr3:52274561-52274611	HPAEpiC	pulmonary alveolar:	n/a
8	chr3:52280124-52280174	NB4	blood:	n/a
9	chr3:52273307-52273357	ECC-1	luminal epithelium:	n/a
10	chr3:52272690-52272740	HRPEpiC	eye:	n/a
11	chr3:52280702-52280752	A549	lung:	n/a
12	chr3:52280124-52280174	HMEC	breast:	n/a
13	chr3:52273307-52273357	A549	lung:	n/a
14	chr3:52273525-52273575	HRCEpiC	kidney:	n/a
15	chr3:52273525-52273575	NHDF-neo	bronchial:	n/a
16	chr3:52280688-52280738	MCF-7	breast:	n/a
17	chr3:52271331-52271381	K562	blood:	n/a
18	chr3:52273295-52273345	LNCaP	prostate:	n/a
19	chr3:52273305-52273355	HRPEpiC	eye:	n/a
20	chr3:52272690-52272740	IMR90	lung:	fetal
21	chr3:52271331-52271381	Jurkat	blood:	n/a
22	chr3:52281709-52281759	HMEC	breast:	n/a
23	chr3:52280702-52280752	HCM	heart:	n/a
24	chr3:52279403-52279453	AG09309	skin:	n/a
25	chr3:52279403-52279453	AG04450	lung:	fetal
26	chr3:52271331-52271381	BJ	skin:	n/a
27	chr3:52272844-52272894	GM12891	blood:	n/a
28	chr3:52271331-52271381	Hepatocyte	liver:	n/a
29	chr3:52280128-52280178	CMK	blood:	n/a
30	chr3:52281709-52281759	NB4	blood:	n/a
31	chr3:52280128-52280178	BE2_C	brain:	n/a
32	chr3:52280688-52280738	Caco-2	colon:	n/a
33	chr3:52280124-52280174	PrEC	prostate:	n/a
34	chr3:52280702-52280752	PANC-1	pancreas:	n/a
35	chr3:52280329-52280379	NB4	blood:	n/a
36	chr3:52273291-52273341	BJ	skin:	n/a
37	chr3:52280128-52280178	HCF	heart:	n/a
38	chr3:52280139-52280189	ProgFib	skin:	n/a
39	chr3:52272690-52272740	CMK	blood:	n/a
40	chr3:52279602-52279652	NH-A	brain:	n/a
41	chr3:52280139-52280189	PANC-1	pancreas:	n/a
42	chr3:52273295-52273345	BE2_C	brain:	n/a
43	chr3:52273295-52273345	AoSMC	blood vessel:	n/a
44	chr3:52281709-52281759	SK-N-MC	brain:	n/a
45	chr3:52280139-52280189	ovcar-3	ovarian:	n/a
46	chr3:52280329-52280379	U87	brain:	n/a
47	chr3:52274561-52274611	SAEC	small airway:	n/a
48	chr3:52274051-52274101	PrEC	prostate:	n/a
49	chr3:52279403-52279453	PFSK-1	brain:	n/a
50	chr3:52273525-52273575	Hepatocyte	liver:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:52272390..52274822-chr3:52406008..52407949,2	K562	blood:
2	chr3:52273385..52273886-chr3:133378506..133379006,2	NB4	blood:
3	chr3:52272619..52275147-chr3:52443057..52446254,5	K562	blood:
4	chr3:52286679..52290007-chr3:52290235..52292692,3	K562	blood:
5	chr3:52278407..52281355-chr3:52281666..52283628,3	MCF-7	breast:
6	chr3:52279829..52282973-chr3:52309699..52312689,5	MCF-7	breast:
7	chr3:52270849..52271669-chr8:97274086..97274713,2	HCT-116	colon:
8	chr3:52278277..52281486-chr3:52282865..52288389,9	K562	blood:
9	chr3:52274866..52276465-chr3:52300888..52302569,2	MCF-7	breast:
10	chr3:52265696..52268496-chr3:52269267..52272971,4	MCF-7	breast:
11	chr11:62608645..62609618-chr3:52279287..52279787,2	Hela-S3	cervix:
12	chr3:52269533..52276077-chr3:52310385..52313504,11	MCF-7	breast:
13	chr3:52278407..52281355-chr3:52281666..52283628,3	MCF-7	breast:
14	chr3:52278277..52281486-chr3:52282865..52288389,9	K562	blood:
15	chr3:52280415..52283175-chr3:52286426..52288417,3	MCF-7	breast:
16	chr3:52273329..52274998-chr3:52327132..52329957,2	MCF-7	breast:
17	chr3:52283255..52284796-chr3:52287933..52289453,2	K562	blood:
18	chr3:52269288..52271694-chr3:52319110..52321005,2	MCF-7	breast:
19	chr16:2273366..2273869-chr3:52283726..52284226,2	Hela-S3	cervix:
20	chr3:52268502..52270036-chr3:52311908..52314756,2	K562	blood:
21	chr3:52027463..52030131-chr3:52273399..52277503,3	K562	blood:
22	chr3:52283046..52286146-chr3:52310824..52313812,3	K562	blood:
23	chr3:52272181..52276088-chr3:52318615..52323958,11	MCF-7	breast:
24	chr3:52273199..52273773-chr4:120133265..120133955,2	NB4	blood:
25	chr3:52280316..52283002-chr3:52418190..52421140,2	K562	blood:
26	chr3:52271022..52275105-chr3:52320320..52325575,6	K562	blood:
27	chr3:52268721..52271141-chr3:52272963..52274697,2	K562	blood:
28	chr3:52271015..52274727-chr3:52321912..52324165,4	K562	blood:
29	chr3:52278070..52281652-chr3:52320199..52323338,4	MCF-7	breast:
30	chr3:52269470..52276026-chr3:52310334..52314212,10	MCF-7	breast:
31	chr3:52259472..52263342-chr3:52269626..52274061,4	MCF-7	breast:
32	chr3:52278055..52281861-chr3:52310505..52315451,9	K562	blood:
33	chr3:52277093..52279461-chr3:52290667..52292256,2	MCF-7	breast:
34	chr3:52262902..52264608-chr3:52269630..52271396,2	K562	blood:
35	chr3:52271478..52274801-chr3:52443057..52446273,4	K562	blood:
36	chr3:52264729..52268939-chr3:52269297..52274565,7	K562	blood:
37	chr3:52268278..52270898-chr3:52320244..52322252,2	K562	blood:
38	chr3:52272807..52274330-chr3:52300733..52302349,2	MCF-7	breast:
39	chr3:52269274..52272214-chr3:52398381..52400803,2	K562	blood:
40	chr3:52258495..52260417-chr3:52270496..52273485,2	MCF-7	breast:
41	chr3:52278055..52281861-chr3:52310588..52314481,6	K562	blood:
42	chr3:52286492..52290913-chr3:52310452..52313639,5	K562	blood:
43	chr3:52270811..52274971-chr3:52310538..52315239,11	K562	blood:
44	chr3:52278312..52281288-chr3:52312020..52314246,3	MCF-7	breast:
45	chr2:263992..264836-chr3:52272875..52273459,2	HCT-116	colon:
46	chr3:52257505..52260127-chr3:52268132..52270399,2	K562	blood:
47	chr3:52262375..52268246-chr3:52270366..52274345,8	K562	blood:
48	chr3:52006492..52009228-chr3:52273747..52276252,2	K562	blood:
49	chr3:52270811..52276588-chr3:52310648..52314131,11	K562	blood:
50	chr3:52277680..52279387-chr3:52372909..52375320,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPM1M-2	chr3:52274191-52275813	NONHSAT089901
2	lnc-PPM1M-2	chr3:52273288-52273451	NONHSAT089901

No data

Variant related genes	Relation type
ENSG00000173366	TF binding region
TWF2	TF binding region
TLR9	TF binding region
PPM1M	TF binding region
ENSG00000243224	TF binding region
ENSG00000173366	CpG island
TWF2	CpG island
TLR9	CpG island
PPM1M	CpG island
ENSG00000243224	CpG island
ENSG00000133316	chromatin interactions
ENSG00000156471	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000239557	chromatin interactions
ENSG00000164088	chromatin interactions
ENSG00000248487	chromatin interactions
ENSG00000035115	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000162244	chromatin interactions
ENSG00000243224	chromatin interactions
ENSG00000239732	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000168237	chromatin interactions
ENSG00000114841	chromatin interactions
ENSG00000247596	chromatin interactions
ENSG00000173366	chromatin interactions
ENSG00000114786	chromatin interactions
ENSG00000199150	chromatin interactions
ENSG00000163930	chromatin interactions
ENSG00000207926	chromatin interactions
ENSG00000167967	chromatin interactions
ENSG00000010318	chromatin interactions
ENSG00000272762	chromatin interactions
ENSG00000143727	chromatin interactions
ENSG00000178636	chromatin interactions

Extended variants
information (count: 604 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs353548	chr3:52269491-52269492	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542830182	chr3:52269507-52269508	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs138424485	chr3:52269508-52269509	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs561861965	chr3:52269557-52269558	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs531636520	chr3:52269570-52269571	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs149276470	chr3:52269597-52269598	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs11715382	chr3:52269616-52269617	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs143316092	chr3:52269617-52269618	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs547887071	chr3:52269644-52269645	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs139251623	chr3:52269723-52269724	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs143304581	chr3:52269737-52269738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs75957225	chr3:52269747-52269748	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs566691302	chr3:52269749-52269750	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs187622356	chr3:52269792-52269793	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs368304224	chr3:52269837-52269838	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs374927865	chr3:52269840-52269841	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs371717503	chr3:52269879-52269880	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs147544111	chr3:52269892-52269893	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs139858559	chr3:52269922-52269923	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs190841930	chr3:52269926-52269927	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs533571626	chr3:52269939-52269940	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs184015788	chr3:52269942-52269943	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs141823729	chr3:52269958-52269959	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs73088770	chr3:52269971-52269972	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs573696754	chr3:52269994-52269995	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs187862985	chr3:52269999-52270000	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs192350845	chr3:52270010-52270011	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs576197770	chr3:52270038-52270039	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs545308320	chr3:52270068-52270069	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs150621406	chr3:52270076-52270077	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs572440295	chr3:52270093-52270094	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs199933493	chr3:52270096-52270097	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs541450791	chr3:52270109-52270110	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs561183592	chr3:52270147-52270148	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs367724783	chr3:52270148-52270149	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs139728815	chr3:52270178-52270179	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs563900136	chr3:52270210-52270211	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs532605858	chr3:52270248-52270249	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs552431404	chr3:52270305-52270306	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs200871213	chr3:52270334-52270335	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs35552912	chr3:52270335-52270336	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs184688259	chr3:52270358-52270359	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs138473167	chr3:52270398-52270399	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs34544475	chr3:52270436-52270437	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs556240060	chr3:52270479-52270480	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs369804512	chr3:52270480-52270481	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs575494811	chr3:52270489-52270490	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs112231836	chr3:52270495-52270496	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs567195175	chr3:52270568-52270569	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs187244161	chr3:52270571-52270572	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:1857 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52247800-52272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:52253200-52269600	Weak transcription	Fetal Kidney	kidney
3	chr3:52255200-52270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:52261200-52270800	Strong transcription	Fetal Stomach	stomach
5	chr3:52261400-52269600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:52261600-52269800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr3:52261600-52270000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:52261600-52270000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:52261600-52270600	Strong transcription	NHEK	skin
10	chr3:52261800-52269800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr3:52261800-52269800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr3:52261800-52270000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:52261800-52270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:52262400-52269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:52262400-52269800	Strong transcription	Osteobl	bone
16	chr3:52262400-52270000	Strong transcription	NHLF	lung
17	chr3:52263000-52269800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:52264200-52271400	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr3:52264600-52270000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:52264800-52270600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:52265000-52270400	Weak transcription	K562	blood
22	chr3:52265000-52272000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:52265200-52270400	Weak transcription	HSMMtube	muscle
24	chr3:52265200-52270800	Weak transcription	HUVEC	blood vessel
25	chr3:52265400-52269600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:52265400-52269800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr3:52265400-52270800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:52265400-52271800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:52265600-52269600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:52265600-52270400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:52265600-52270400	Weak transcription	Brain Substantia Nigra	brain
32	chr3:52265600-52270400	Strong transcription	Fetal Intestine Small	intestine
33	chr3:52265600-52270400	Weak transcription	Stomach Mucosa	stomach
34	chr3:52265600-52270400	Weak transcription	HMEC	breast
35	chr3:52265600-52270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:52265600-52270600	Weak transcription	Small Intestine	intestine
37	chr3:52265600-52270800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:52265600-52270800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:52265600-52271200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:52265800-52270000	Genic enhancers	Primary T cells from cord blood	blood
41	chr3:52265800-52270000	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr3:52265800-52271600	Enhancers	Liver	Liver
43	chr3:52266000-52270600	Weak transcription	NH-A	brain
44	chr3:52266000-52271400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:52266000-52271600	Weak transcription	Fetal Lung	lung
46	chr3:52266200-52269800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:52266200-52269800	Strong transcription	Esophagus	oesophagus
48	chr3:52266200-52270000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:52266200-52270600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:52266200-52271600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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