Variant report

Variant	esv3374707
Chromosome Location	chr6:13813498-13816346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:663)
CpG islands
(count:488)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:13813704-13814683	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:13813685-13814007	K562	blood:	n/a	n/a
3	ARID3A	chr6:13814883-13815042	K562	blood:	n/a	n/a
4	ARID3A	chr6:13815449-13815814	K562	blood:	n/a	n/a
5	ATF2	chr6:13814872-13815282	GM12878	blood:	n/a	n/a
6	ATF2	chr6:13814393-13814623	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr6:13814279-13814648	K562	blood:	n/a	n/a
8	ATF3	chr6:13814267-13814615	HepG2	liver:	n/a	n/a
9	ATF3	chr6:13814238-13814630	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr6:13814334-13814569	GM12878	blood:	n/a	n/a
11	BACH1	chr6:13814970-13815152	K562	blood:	n/a	n/a
12	BACH1	chr6:13813876-13815092	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCLAF1	chr6:13814850-13815217	GM12878	blood:	n/a	n/a
14	BCLAF1	chr6:13814119-13814807	GM12878	blood:	n/a	n/a
15	BCLAF1	chr6:13814850-13815295	GM12878	blood:	n/a	n/a
16	BHLHE40	chr6:13815491-13815500	HepG2	liver:	n/a	n/a
17	BHLHE40	chr6:13814329-13814601	HepG2	liver:	n/a	n/a
18	BHLHE40	chr6:13813829-13815059	HepG2	liver:	n/a	n/a
19	BHLHE40	chr6:13813780-13815195	GM12878	blood:	n/a	n/a
20	BHLHE40	chr6:13814347-13814589	A549	lung:	n/a	n/a
21	BHLHE40	chr6:13813776-13815189	K562	blood:	n/a	n/a
22	BRCA1	chr6:13814496-13814740	GM12878	blood:	n/a	n/a
23	BRCA1	chr6:13813911-13814566	HepG2	liver:	n/a	n/a
24	BRCA1	chr6:13814359-13814545	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr6:13814071-13815171	K562	blood:	n/a	n/a
26	CCNT2	chr6:13813927-13815184	K562	blood:	n/a	chr6:13814891-13814900
27	CEBPB	chr6:13813889-13814029	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPD	chr6:13813949-13814920	HepG2	liver:	n/a	n/a
29	CHD1	chr6:13814137-13814256	GM12878	blood:	n/a	n/a
30	CHD1	chr6:13814480-13815159	GM12878	blood:	n/a	n/a
31	CHD2	chr6:13814202-13815205	GM12878	blood:	n/a	n/a
32	CHD2	chr6:13813855-13814459	K562	blood:	n/a	chr6:13813984-13813994
33	CHD2	chr6:13814879-13815158	K562	blood:	n/a	n/a
34	CHD2	chr6:13813922-13814660	H1-hESC	embryonic stem cell:	n/a	chr6:13813984-13813994
35	CHD2	chr6:13813981-13814999	HepG2	liver:	n/a	chr6:13813984-13813994
36	CHD2	chr6:13813775-13815066	Hela-S3	cervix:	n/a	chr6:13813984-13813994
37	CREB1	chr6:13814225-13814996	A549	lung:	n/a	n/a
38	CREB1	chr6:13814247-13815268	GM12878	blood:	n/a	n/a
39	CREB1	chr6:13813661-13815229	HepG2	liver:	n/a	n/a
40	CTCF	chr6:13814402-13814638	A549	lung:	n/a	n/a
41	CTCF	chr6:13814700-13814850	AG04450	lung:	n/a	n/a
42	CTCF	chr6:13814420-13814626	Medullo	brain:	n/a	n/a
43	CTCF	chr6:13814460-13814610	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr6:13814389-13814627	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:13814639-13814643	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr6:13813860-13814010	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr6:13814403-13814602	ProgFib	skin:	n/a	n/a
48	CTCF	chr6:13814415-13814592	GM10266	blood:	n/a	n/a
49	CTCF	chr6:13814388-13814636	GM19240	blood:	n/a	n/a
50	CTCF	chr6:13814420-13814570	GM12878	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13814973-13815023	ovcar-3	ovarian:	n/a
2	chr6:13814945-13814995	Caco-2	colon:	n/a
3	chr6:13813947-13813997	HEEpiC	esophagus:	n/a
4	chr6:13814565-13814615	CMK	blood:	n/a
5	chr6:13814945-13814995	RPTEC	kidney:	n/a
6	chr6:13815054-13815104	ProgFib	skin:	n/a
7	chr6:13814936-13814986	BJ	skin:	n/a
8	chr6:13815054-13815104	HMEC	breast:	n/a
9	chr6:13814936-13814986	HCF	heart:	n/a
10	chr6:13814565-13814615	AG09319	gingival:	n/a
11	chr6:13814875-13814925	GM12878	blood:	n/a
12	chr6:13814945-13814995	HUVEC	blood vessel:	n/a
13	chr6:13814945-13814995	HMEC	breast:	n/a
14	chr6:13814565-13814615	LNCaP	prostate:	n/a
15	chr6:13814875-13814925	AG10803	skin:	n/a
16	chr6:13813947-13813997	HL-60	blood:	n/a
17	chr6:13815054-13815104	GM19239	blood:	n/a
18	chr6:13815054-13815104	AG09319	gingival:	n/a
19	chr6:13814936-13814986	HCM	heart:	n/a
20	chr6:13814973-13815023	LNCaP	prostate:	n/a
21	chr6:13815568-13815618	AG04449	skin:	fetal
22	chr6:13814945-13814995	AG10803	skin:	n/a
23	chr6:13814973-13815023	HCT-116	colon:	n/a
24	chr6:13813947-13813997	AG09319	gingival:	n/a
25	chr6:13815568-13815618	ECC-1	luminal epithelium:	n/a
26	chr6:13813947-13813997	SAEC	small airway:	n/a
27	chr6:13813947-13813997	NT2-D1	testis:	n/a
28	chr6:13814875-13814925	HepG2	liver:	n/a
29	chr6:13814565-13814615	GM12892	blood:	n/a
30	chr6:13813947-13813997	SKMC	muscle:	n/a
31	chr6:13815054-13815104	SK-N-MC	brain:	n/a
32	chr6:13814565-13814615	NB4	blood:	n/a
33	chr6:13814945-13814995	Jurkat	blood:	n/a
34	chr6:13814565-13814615	HIPEpiC	eye:	n/a
35	chr6:13814565-13814615	HEEpiC	esophagus:	n/a
36	chr6:13814945-13814995	HepG2	liver:	n/a
37	chr6:13814945-13814995	BE2_C	brain:	n/a
38	chr6:13814875-13814925	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:13814936-13814986	PrEC	prostate:	n/a
40	chr6:13814565-13814615	HCF	heart:	n/a
41	chr6:13813947-13813997	SK-N-MC	brain:	n/a
42	chr6:13814973-13815023	AoSMC	blood vessel:	n/a
43	chr6:13814875-13814925	HCPEpiC	choroid plexus:	n/a
44	chr6:13814973-13815023	NHBE	bronchial:	n/a
45	chr6:13814875-13814925	AG04449	skin:	fetal
46	chr6:13814936-13814986	NHBE	bronchial:	n/a
47	chr6:13814973-13815023	HMEC	breast:	n/a
48	chr6:13814945-13814995	ECC-1	luminal epithelium:	n/a
49	chr6:13814565-13814615	Jurkat	blood:	n/a
50	chr6:13815054-13815104	U87	brain:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13813751..13814556-chr6:14144563..14145068,2	K562	blood:
2	chr6:13811882..13817297-chr6:13824102..13828307,6	K562	blood:
3	chr18:3450087..3450684-chr6:13814430..13814965,2	Hela-S3	cervix:
4	chr1:249120244..249120977-chr6:13813975..13814922,2	Hela-S3	cervix:
5	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
6	chr20:48770031..48771005-chr6:13814434..13814952,2	Hela-S3	cervix:
7	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:
8	chr1:202776857..202777529-chr6:13814056..13814868,2	MCF-7	breast:
9	chr6:13812222..13814493-chr6:13862660..13864603,2	MCF-7	breast:
10	chr6:13613755..13617282-chr6:13813110..13815971,5	MCF-7	breast:
11	chr6:13710342..13712818-chr6:13812780..13815719,5	MCF-7	breast:
12	chr6:13572890..13574981-chr6:13813241..13814788,2	K562	blood:
13	chr1:45186930..45187740-chr6:13814433..13814972,2	Hela-S3	cervix:
14	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:
15	chr5:34915396..34916176-chr6:13814486..13815274,2	Hela-S3	cervix:
16	chr6:13814382..13814930-chr8:42697668..42698445,2	HCT-116	colon:
17	chr2:43453331..43454101-chr6:13814546..13815235,2	Hela-S3	cervix:
18	chr6:13709898..13714007-chr6:13809605..13814723,8	K562	blood:

No data

Variant related genes	Relation type
MCUR1	TF binding region
ENSG00000233075	TF binding region
MCUR1	CpG island
ENSG00000233075	CpG island
ENSG00000124208	chromatin interactions
ENSG00000225921	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000175137	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000113460	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000113456	chromatin interactions
ENSG00000240849	chromatin interactions
ENSG00000117139	chromatin interactions
ENSG00000272209	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000264500	chromatin interactions
ENSG00000010017	chromatin interactions
ENSG00000131931	chromatin interactions
ENSG00000261071	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546465741	chr6:13813498-13813499	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs560221339	chr6:13813526-13813527	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs529074443	chr6:13813552-13813553	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs548951657	chr6:13813605-13813606	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs370650413	chr6:13813633-13813634	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs140025809	chr6:13813641-13813642	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs149819758	chr6:13813642-13813643	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs144798529	chr6:13813663-13813664	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs557086116	chr6:13813700-13813701	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs139163230	chr6:13813718-13813719	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs554439828	chr6:13813746-13813747	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs567911788	chr6:13813762-13813763	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs375100442	chr6:13813770-13813771	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs144047054	chr6:13813772-13813773	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs576096486	chr6:13813799-13813800	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs545122147	chr6:13813817-13813818	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs558651458	chr6:13813831-13813832	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs111587953	chr6:13813836-13813837	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs186422362	chr6:13813893-13813894	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs190881849	chr6:13813948-13813949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs560391430	chr6:13813976-13813977	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs529176733	chr6:13813984-13813985	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs547920884	chr6:13814008-13814009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs562557285	chr6:13814025-13814026	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs531406607	chr6:13814058-13814059	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs551487281	chr6:13814068-13814069	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs571406881	chr6:13814136-13814137	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs527280939	chr6:13814165-13814166	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs182295827	chr6:13814178-13814179	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs1204144	chr6:13814222-13814223	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573929790	chr6:13814240-13814241	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs536562068	chr6:13814276-13814277	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs556692934	chr6:13814325-13814326	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs569895757	chr6:13814329-13814330	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs538878653	chr6:13814337-13814338	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs12206286	chr6:13814338-13814339	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1204145	chr6:13814340-13814341	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs368658565	chr6:13814425-13814426	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs371767736	chr6:13814461-13814462	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs574467740	chr6:13814515-13814516	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs573846118	chr6:13814528-13814529	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs542578640	chr6:13814529-13814530	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs562805335	chr6:13814570-13814571	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs531525759	chr6:13814581-13814582	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs545271722	chr6:13814599-13814600	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs564927790	chr6:13814662-13814663	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs527394696	chr6:13814664-13814665	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs202211273	chr6:13814683-13814684	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs374391799	chr6:13814688-13814689	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs529723680	chr6:13814701-13814702	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	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
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13788800-13813600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:13800600-13813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:13802800-13813600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:13802800-13813800	Weak transcription	Esophagus	oesophagus
5	chr6:13806000-13813800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:13807400-13813600	Weak transcription	Thymus	Thymus
7	chr6:13810600-13813600	Enhancers	Small Intestine	intestine
8	chr6:13810800-13813600	Enhancers	Gastric	stomach
9	chr6:13810800-13813600	Enhancers	Pancreas	Pancrea
10	chr6:13810800-13813600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr6:13811200-13813800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:13811400-13813600	Enhancers	Ovary	ovary
13	chr6:13811400-13815000	Active TSS	GM12878-XiMat	blood
14	chr6:13811800-13813600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:13811800-13813600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:13811800-13813600	Enhancers	Left Ventricle	heart
17	chr6:13811800-13813600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr6:13812000-13813600	Weak transcription	Psoas Muscle	Psoas
19	chr6:13812000-13813600	Flanking Active TSS	K562	blood
20	chr6:13812000-13814000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr6:13812200-13813600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:13812200-13813600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:13812200-13813600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:13812200-13813600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:13812200-13813800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:13812200-13814000	Flanking Active TSS	Dnd41	blood
27	chr6:13812400-13813600	Enhancers	Primary T cells from cord blood	blood
28	chr6:13812400-13813600	Enhancers	Liver	Liver
29	chr6:13812400-13813600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr6:13812400-13813800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:13812600-13813600	Weak transcription	Aorta	Aorta
32	chr6:13812600-13813800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:13812600-13814000	Active TSS	Fetal Brain Female	brain
34	chr6:13812800-13813600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:13812800-13813600	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr6:13812800-13813800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:13813000-13813600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:13813000-13813600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:13813000-13813600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:13813000-13813600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:13813000-13813600	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr6:13813000-13813600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr6:13813000-13813600	Flanking Active TSS	HMEC	breast
44	chr6:13813200-13813600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr6:13813200-13813600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:13813200-13813600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:13813200-13813600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:13813200-13813600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:13813200-13813600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:13813200-13813600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links