Variant report

Variant	esv3357727
Chromosome Location	chr4:91048154-91050702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:734)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:91048205-91048813	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:91049041-91049940	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr4:91049447-91049983	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:91048397-91049079	GM12878	blood:	n/a	chr4:91049042-91049058
5	BRCA1	chr4:91049004-91049024	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr4:91048013-91048213	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr4:91049659-91050082	MCF-7	breast:	n/a	chr4:91049926-91049939
8	CEBPB	chr4:91049551-91050276	Hela-S3	cervix:	n/a	chr4:91049926-91049939
9	CEBPB	chr4:91049567-91050208	ECC-1	luminal epithelium:	n/a	chr4:91049926-91049939
10	CEBPB	chr4:91049679-91050168	ECC-1	luminal epithelium:	n/a	chr4:91049926-91049939
11	CEBPB	chr4:91049757-91050097	IMR90	lung:	n/a	chr4:91049926-91049939
12	CEBPB	chr4:91049730-91050053	H1-hESC	embryonic stem cell:	n/a	chr4:91049926-91049939
13	CHD2	chr4:91048525-91048724	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr4:91048473-91048738	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr4:91049595-91049933	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr4:91049265-91049402	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr4:91049630-91049782	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:91048600-91048750	HRE	kidney:	n/a	n/a
19	CTCF	chr4:91048520-91048670	GM12868	blood:	n/a	n/a
20	CTCF	chr4:91049440-91049590	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr4:91048555-91048843	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:91048578-91048618	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr4:91049220-91049370	GM12874	blood:	n/a	n/a
24	CTCF	chr4:91048378-91048489	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:91048762-91048848	MCF-7	breast:	n/a	n/a
26	CTCF	chr4:91048660-91048810	GM12871	blood:	n/a	n/a
27	CTCF	chr4:91048720-91048870	GM12873	blood:	n/a	n/a
28	CTCF	chr4:91048516-91048850	NHEK	skin:	n/a	n/a
29	CTCF	chr4:91048760-91048813	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr4:91048390-91048447	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:91048600-91048750	BE2_C	brain:	n/a	n/a
32	CTCF	chr4:91048520-91048714	GM19238	blood:	n/a	n/a
33	CTCF	chr4:91049062-91049111	MCF-7	breast:	n/a	n/a
34	CTCF	chr4:91048417-91048448	MCF-7	breast:	n/a	n/a
35	CTCF	chr4:91048560-91048710	GM12869	blood:	n/a	n/a
36	CTCF	chr4:91048508-91048703	GM12892	blood:	n/a	n/a
37	CTCF	chr4:91048409-91048414	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:91048500-91048720	GM12891	blood:	n/a	n/a
39	CTCF	chr4:91048460-91048610	Caco-2	colon:	n/a	n/a
40	CTCF	chr4:91048600-91048750	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr4:91048512-91048832	MCF-7	breast:	n/a	n/a
42	CTCF	chr4:91048577-91048716	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:91048520-91048670	NHEK	skin:	n/a	n/a
44	CTCF	chr4:91048480-91048630	GM12866	blood:	n/a	n/a
45	CTCF	chr4:91048660-91048810	BE2_C	brain:	n/a	n/a
46	CTCF	chr4:91049200-91049350	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr4:91048453-91048822	GM12878	blood:	n/a	n/a
48	CTCF	chr4:91048620-91048770	GM12873	blood:	n/a	n/a
49	CTCF	chr4:91048537-91048653	GM19239	blood:	n/a	n/a
50	CTCF	chr4:91049260-91049410	GM12875	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:91049645-91049695	Hepatocyte	liver:	n/a
2	chr4:91049728-91049778	ECC-1	luminal epithelium:	n/a
3	chr4:91049645-91049695	Hepatocyte	liver:	n/a
4	chr4:91049728-91049778	ECC-1	luminal epithelium:	n/a
5	chr4:91048823-91048873	SKMC	muscle:	n/a
6	chr4:91048584-91048634	NHDF-neo	bronchial:	n/a
7	chr4:91048916-91048966	CMK	blood:	n/a
8	chr4:91048559-91048609	HMEC	breast:	n/a
9	chr4:91048916-91048966	HPAEpiC	pulmonary alveolar:	n/a
10	chr4:91048584-91048634	NH-A	brain:	n/a
11	chr4:91048416-91048466	SK-N-MC	brain:	n/a
12	chr4:91048419-91048469	PFSK-1	brain:	n/a
13	chr4:91049645-91049695	AG04450	lung:	fetal
14	chr4:91049645-91049695	BE2_C	brain:	n/a
15	chr4:91049728-91049778	HRCEpiC	kidney:	n/a
16	chr4:91048557-91048607	AG10803	skin:	n/a
17	chr4:91049645-91049695	Hela-S3	cervix:	n/a
18	chr4:91048419-91048469	Caco-2	colon:	n/a
19	chr4:91049645-91049695	MCF-7	breast:	n/a
20	chr4:91048584-91048634	HNPCEpiC	eye:	n/a
21	chr4:91049645-91049695	NT2-D1	testis:	n/a
22	chr4:91048416-91048466	PANC-1	pancreas:	n/a
23	chr4:91048567-91048617	NHBE	bronchial:	n/a
24	chr4:91048557-91048607	Caco-2	colon:	n/a
25	chr4:91048823-91048873	HAEpiC	amniotic membrane:	n/a
26	chr4:91049728-91049778	Jurkat	blood:	n/a
27	chr4:91048559-91048609	A549	lung:	n/a
28	chr4:91048419-91048469	HCM	heart:	n/a
29	chr4:91049007-91049057	AG04450	lung:	fetal
30	chr4:91048557-91048607	AoSMC	blood vessel:	n/a
31	chr4:91048557-91048607	HRCEpiC	kidney:	n/a
32	chr4:91049645-91049695	GM06990	blood:	n/a
33	chr4:91048416-91048466	RPTEC	kidney:	n/a
34	chr4:91048419-91048469	HEK293	kidney:	embryo
35	chr4:91048559-91048609	U87	brain:	n/a
36	chr4:91048557-91048607	NHDF-neo	bronchial:	n/a
37	chr4:91049728-91049778	HMEC	breast:	n/a
38	chr4:91048916-91048966	HAEpiC	amniotic membrane:	n/a
39	chr4:91049007-91049057	HRPEpiC	eye:	n/a
40	chr4:91048916-91048966	Hela-S3	cervix:	n/a
41	chr4:91049007-91049057	ProgFib	skin:	n/a
42	chr4:91049533-91049583	HRPEpiC	eye:	n/a
43	chr4:91048557-91048607	RPTEC	kidney:	n/a
44	chr4:91048559-91048609	PANC-1	pancreas:	n/a
45	chr4:91049007-91049057	GM19239	blood:	n/a
46	chr4:91048916-91048966	A549	lung:	n/a
47	chr4:91049533-91049583	HEK293	kidney:	embryo
48	chr4:91048559-91048609	AG04449	skin:	fetal
49	chr4:91049007-91049057	SK-N-SH_RA	brain:	n/a
50	chr4:91049728-91049778	Caco-2	colon:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:2058702..2060790-chr4:91048350..91050086,2	MCF-7	breast:
2	chr12:95854714..95855676-chr4:91048972..91049512,2	HCT-116	colon:
3	chr4:91049244..91050799-chr4:91210980..91212924,2	MCF-7	breast:
4	chr4:90979793..90982675-chr4:91045572..91048422,2	MCF-7	breast:
5	chr4:91048485..91049157-chr9:101983883..101984451,2	Hela-S3	cervix:
6	chr4:91048233..91049088-chr5:95066829..95067559,2	HCT-116	colon:
7	chr1:33815262..33816159-chr4:91048253..91048899,2	Hela-S3	cervix:
8	chr17:56754989..56757359-chr4:91049583..91051351,2	MCF-7	breast:
9	chr4:91048863..91050461-chr4:91183370..91185880,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCSER1	TF binding region
CCSER1	CpG island
ENSG00000206917	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000233246	chromatin interactions
ENSG00000167962	chromatin interactions
ENSG00000183971	chromatin interactions
ENSG00000119523	chromatin interactions
ENSG00000106803	chromatin interactions
ENSG00000164292	chromatin interactions
ENSG00000134686	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535519947	chr4:91048250-91048251	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546418440	chr4:91048301-91048302	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs569255145	chr4:91048319-91048320	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs138415818	chr4:91048392-91048393	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs557945951	chr4:91048440-91048441	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs116125053	chr4:91048469-91048470	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs540503787	chr4:91048500-91048501	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs558927506	chr4:91048523-91048524	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs199798910	chr4:91048553-91048554	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs554204056	chr4:91048578-91048579	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs572790391	chr4:91048579-91048580	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs535915214	chr4:91048580-91048581	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs541509920	chr4:91048582-91048583	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs561779422	chr4:91048609-91048610	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs530635243	chr4:91048710-91048711	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs547233097	chr4:91048720-91048721	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs187161303	chr4:91048942-91048943	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs190422682	chr4:91048944-91048945	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs533194423	chr4:91048984-91048985	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs183415155	chr4:91049015-91049016	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs566699834	chr4:91049040-91049041	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs529240885	chr4:91049110-91049111	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs370134276	chr4:91049117-91049118	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs554357548	chr4:91049143-91049144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs549118408	chr4:91049168-91049169	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569300487	chr4:91049186-91049187	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537971638	chr4:91049238-91049239	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs551489907	chr4:91049250-91049251	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571494185	chr4:91049273-91049274	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187619282	chr4:91049290-91049291	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374113569	chr4:91049400-91049401	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554446315	chr4:91049413-91049414	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367958356	chr4:91049452-91049453	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs535391230	chr4:91049484-91049485	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369230514	chr4:91049583-91049584	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs555088358	chr4:91049639-91049640	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs371349573	chr4:91049645-91049646	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs147426828	chr4:91049646-91049647	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs142691220	chr4:91049665-91049666	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs10016696	chr4:91049667-91049668	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs70963056	chr4:91049668-91049669	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs79683700	chr4:91049669-91049670	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs544306932	chr4:91049680-91049681	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs191376599	chr4:91049729-91049730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs147439501	chr4:91049759-91049760	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs577908583	chr4:91049770-91049771	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs370891343	chr4:91049797-91049798	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs372708938	chr4:91049829-91049830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs138181743	chr4:91049863-91049864	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs529190819	chr4:91049915-91049916	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91045800-91048200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:91047800-91048200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr4:91047800-91048200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:91047800-91048200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr4:91047800-91048200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:91047800-91048400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr4:91047800-91048400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:91047800-91049600	Active TSS	Brain Anterior Caudate	brain
9	chr4:91047800-91049800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:91047800-91051000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:91047800-91051200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr4:91048000-91048200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr4:91048000-91048200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:91048000-91048200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:91048000-91048200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr4:91048000-91048200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr4:91048000-91048200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
18	chr4:91048000-91048200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
19	chr4:91048000-91048200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr4:91048000-91048200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:91048000-91048200	Enhancers	Colonic Mucosa	Colon
22	chr4:91048000-91048200	Flanking Active TSS	Fetal Heart	heart
23	chr4:91048000-91048200	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr4:91048000-91048200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr4:91048000-91048200	Enhancers	Placenta	Placenta
26	chr4:91048000-91048200	Active TSS	Psoas Muscle	Psoas
27	chr4:91048000-91048200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
28	chr4:91048000-91048400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr4:91048000-91048400	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr4:91048000-91048400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:91048000-91048400	Flanking Active TSS	Fetal Brain Female	brain
32	chr4:91048000-91048400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:91048000-91048400	Flanking Active TSS	GM12878-XiMat	blood
34	chr4:91048000-91048600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:91048000-91048600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr4:91048000-91048600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
37	chr4:91048000-91048800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:91048000-91049000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr4:91048000-91049000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr4:91048000-91049000	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr4:91048000-91049000	Flanking Active TSS	HUVEC	blood vessel
42	chr4:91048000-91049200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:91048000-91049200	Active TSS	Brain Germinal Matrix	brain
44	chr4:91048000-91049600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr4:91048000-91049600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:91048000-91049600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr4:91048000-91049600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:91048000-91049600	Active TSS	Fetal Brain Male	brain
49	chr4:91048000-91049600	Active TSS	Fetal Kidney	kidney
50	chr4:91048000-91049800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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