Variant report

Variant	esv3330627
Chromosome Location	chr4:77995278-77997926
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	ARID3A	chr4:77997179-77998009	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:77997216-77997914	K562	blood:	n/a	n/a
3	ATF1	chr4:77997047-77997889	K562	blood:	n/a	chr4:77997443-77997457
4	ATF2	chr4:77996938-77997976	GM12878	blood:	n/a	chr4:77997445-77997456 chr4:77997443-77997457
5	ATF2	chr4:77996952-77997797	H1-hESC	embryonic stem cell:	n/a	chr4:77997445-77997456 chr4:77997443-77997457
6	ATF2	chr4:77997010-77997775	H1-hESC	embryonic stem cell:	n/a	chr4:77997445-77997456 chr4:77997443-77997457
7	ATF2	chr4:77996552-77997993	GM12878	blood:	n/a	chr4:77997445-77997456 chr4:77997443-77997457
8	ATF3	chr4:77997287-77997630	K562	blood:	n/a	chr4:77997445-77997458 chr4:77997444-77997457 chr4:77997444-77997457 chr4:77997445-77997456 chr4:77997447-77997457 chr4:77997444-77997455 chr4:77997447-77997454 chr4:77997444-77997454 chr4:77997446-77997457 chr4:77997443-77997458 chr4:77997445-77997456 chr4:77997446-77997454 chr4:77997444-77997454 chr4:77997443-77997456 chr4:77997447-77997457
9	ATF3	chr4:77997009-77997614	A549	lung:	n/a	chr4:77997445-77997458 chr4:77997444-77997457 chr4:77997444-77997457 chr4:77997445-77997456 chr4:77997447-77997457 chr4:77997444-77997455 chr4:77997447-77997454 chr4:77997444-77997454 chr4:77997446-77997457 chr4:77997443-77997458 chr4:77997445-77997456 chr4:77997446-77997454 chr4:77997444-77997454 chr4:77997443-77997456 chr4:77997447-77997457
10	ATF3	chr4:77996995-77997835	K562	blood:	n/a	chr4:77997445-77997458 chr4:77997444-77997457 chr4:77997444-77997457 chr4:77997445-77997456 chr4:77997447-77997457 chr4:77997444-77997455 chr4:77997447-77997454 chr4:77997444-77997454 chr4:77997446-77997457 chr4:77997443-77997458 chr4:77997445-77997456 chr4:77997446-77997454 chr4:77997444-77997454 chr4:77997443-77997456 chr4:77997447-77997457
11	ATF3	chr4:77997211-77997693	H1-hESC	embryonic stem cell:	n/a	chr4:77997445-77997458 chr4:77997444-77997457 chr4:77997444-77997457 chr4:77997445-77997456 chr4:77997447-77997457 chr4:77997444-77997455 chr4:77997447-77997454 chr4:77997444-77997454 chr4:77997446-77997457 chr4:77997443-77997458 chr4:77997445-77997456 chr4:77997446-77997454 chr4:77997444-77997454 chr4:77997443-77997456 chr4:77997447-77997457
12	ATF3	chr4:77997035-77997784	A549	lung:	n/a	chr4:77997445-77997458 chr4:77997444-77997457 chr4:77997444-77997457 chr4:77997445-77997456 chr4:77997447-77997457 chr4:77997444-77997455 chr4:77997447-77997454 chr4:77997444-77997454 chr4:77997446-77997457 chr4:77997443-77997458 chr4:77997445-77997456 chr4:77997446-77997454 chr4:77997444-77997454 chr4:77997443-77997456 chr4:77997447-77997457
13	BACH1	chr4:77997321-77997732	K562	blood:	n/a	n/a
14	BACH1	chr4:77997162-77997929	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr4:77997134-77997610	GM12878	blood:	n/a	chr4:77997444-77997457
16	BCL11A	chr4:77997011-77997915	GM12878	blood:	n/a	chr4:77997266-77997279
17	BCL3	chr4:77996950-77997729	A549	lung:	n/a	chr4:77997266-77997279
18	BCL3	chr4:77996945-77997624	A549	lung:	n/a	chr4:77997266-77997279
19	BCLAF1	chr4:77996982-77998067	GM12878	blood:	n/a	chr4:77997266-77997279
20	BCLAF1	chr4:77996155-77997969	GM12878	blood:	n/a	chr4:77996941-77996950 chr4:77996547-77996560 chr4:77996892-77996901 chr4:77997266-77997279 chr4:77996535-77996544 chr4:77996940-77996953 chr4:77996831-77996844 chr4:77996837-77996850 chr4:77996835-77996848 chr4:77996542-77996555 chr4:77996886-77996899
21	BHLHE40	chr4:77997057-77997860	K562	blood:	n/a	n/a
22	BHLHE40	chr4:77996277-77996400	K562	blood:	n/a	n/a
23	BHLHE40	chr4:77996235-77997795	GM12878	blood:	n/a	chr4:77996826-77996842 chr4:77996542-77996558 chr4:77996834-77996850
24	BHLHE40	chr4:77997071-77997712	HepG2	liver:	n/a	n/a
25	BHLHE40	chr4:77996683-77996767	K562	blood:	n/a	n/a
26	BRCA1	chr4:77997154-77997754	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr4:77997010-77997933	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr4:77997125-77997547	HepG2	liver:	n/a	n/a
29	BRCA1	chr4:77997083-77997590	GM12878	blood:	n/a	n/a
30	CBX3	chr4:77996956-77998039	K562	blood:	n/a	n/a
31	CBX3	chr4:77996965-77998014	K562	blood:	n/a	n/a
32	CCNT2	chr4:77996296-77997873	K562	blood:	n/a	chr4:77997026-77997035 chr4:77996947-77996956 chr4:77997549-77997558
33	CEBPB	chr4:77997027-77997554	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr4:77994658-77995482	K562	blood:	n/a	chr4:77995256-77995265 chr4:77995254-77995265 chr4:77995256-77995267 chr4:77995346-77995358
35	CEBPB	chr4:77996951-77997912	GM12878	blood:	n/a	n/a
36	CEBPB	chr4:77994421-77995466	IMR90	lung:	n/a	chr4:77995256-77995265 chr4:77995254-77995265 chr4:77995256-77995267 chr4:77995346-77995358
37	CEBPB	chr4:77997071-77997962	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr4:77995129-77995376	H1-hESC	embryonic stem cell:	n/a	chr4:77995256-77995265 chr4:77995254-77995265 chr4:77995256-77995267 chr4:77995346-77995358
39	CEBPB	chr4:77994583-77995553	HepG2	liver:	n/a	chr4:77995256-77995265 chr4:77995254-77995265 chr4:77995256-77995267 chr4:77995346-77995358
40	CEBPB	chr4:77997113-77997609	GM12878	blood:	n/a	n/a
41	CEBPB	chr4:77995093-77995548	A549	lung:	n/a	chr4:77995256-77995265 chr4:77995254-77995265 chr4:77995256-77995267 chr4:77995346-77995358
42	CEBPB	chr4:77997220-77997828	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr4:77997050-77997701	MCF-7	breast:	n/a	n/a
44	CEBPB	chr4:77995070-77995434	K562	blood:	n/a	chr4:77995256-77995265 chr4:77995254-77995265 chr4:77995256-77995267 chr4:77995346-77995358
45	CEBPB	chr4:77997269-77997782	K562	blood:	n/a	n/a
46	CEBPB	chr4:77997171-77997661	HepG2	liver:	n/a	n/a
47	CEBPB	chr4:77994625-77995417	Hela-S3	cervix:	n/a	chr4:77995256-77995265 chr4:77995254-77995265 chr4:77995256-77995267 chr4:77995346-77995358
48	CEBPB	chr4:77997087-77997633	A549	lung:	n/a	n/a
49	CEBPB	chr4:77997039-77997871	K562	blood:	n/a	n/a
50	CEBPD	chr4:77996510-77996788	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:77997188-77997238	HCM	heart:	n/a
2	chr4:77997201-77997251	HUVEC	blood vessel:	n/a
3	chr4:77997201-77997251	A549	lung:	n/a
4	chr4:77997565-77997615	HUVEC	blood vessel:	n/a
5	chr4:77997188-77997238	AG04449	skin:	fetal
6	chr4:77997182-77997232	Hela-S3	cervix:	n/a
7	chr4:77996513-77996563	RPTEC	kidney:	n/a
8	chr4:77996244-77996294	Hela-S3	cervix:	n/a
9	chr4:77996840-77996890	AG04449	skin:	fetal
10	chr4:77996840-77996890	Hepatocyte	liver:	n/a
11	chr4:77997565-77997615	HRCEpiC	kidney:	n/a
12	chr4:77997565-77997615	K562	blood:	n/a
13	chr4:77996513-77996563	HEK293	kidney:	embryo
14	chr4:77997565-77997615	RPTEC	kidney:	n/a
15	chr4:77997196-77997246	PrEC	prostate:	n/a
16	chr4:77996437-77996487	ProgFib	skin:	n/a
17	chr4:77997201-77997251	HCPEpiC	choroid plexus:	n/a
18	chr4:77996244-77996294	RPTEC	kidney:	n/a
19	chr4:77996437-77996487	AG04449	skin:	fetal
20	chr4:77997420-77997470	BE2_C	brain:	n/a
21	chr4:77997182-77997232	PFSK-1	brain:	n/a
22	chr4:77997201-77997251	LNCaP	prostate:	n/a
23	chr4:77997420-77997470	NB4	blood:	n/a
24	chr4:77997565-77997615	AG09319	gingival:	n/a
25	chr4:77997201-77997251	HNPCEpiC	eye:	n/a
26	chr4:77997182-77997232	K562	blood:	n/a
27	chr4:77997188-77997238	SK-N-MC	brain:	n/a
28	chr4:77996437-77996487	GM19239	blood:	n/a
29	chr4:77996437-77996487	U87	brain:	n/a
30	chr4:77997182-77997232	H1-hESC	embryonic stem cell:	embryo
31	chr4:77997420-77997470	Hepatocyte	liver:	n/a
32	chr4:77996513-77996563	ProgFib	skin:	n/a
33	chr4:77996840-77996890	ProgFib	skin:	n/a
34	chr4:77997512-77997562	HL-60	blood:	n/a
35	chr4:77997188-77997238	HEK293	kidney:	embryo
36	chr4:77997420-77997470	HRCEpiC	kidney:	n/a
37	chr4:77997182-77997232	GM19239	blood:	n/a
38	chr4:77997201-77997251	HCF	heart:	n/a
39	chr4:77996840-77996890	PFSK-1	brain:	n/a
40	chr4:77997182-77997232	SAEC	small airway:	n/a
41	chr4:77996244-77996294	HUVEC	blood vessel:	n/a
42	chr4:77997420-77997470	AG09319	gingival:	n/a
43	chr4:77996437-77996487	AG09309	skin:	n/a
44	chr4:77996840-77996890	NB4	blood:	n/a
45	chr4:77996437-77996487	BJ	skin:	n/a
46	chr4:77997188-77997238	HRPEpiC	eye:	n/a
47	chr4:77997512-77997562	AG09309	skin:	n/a
48	chr4:77997196-77997246	PANC-1	pancreas:	n/a
49	chr4:77996840-77996890	ovcar-3	ovarian:	n/a
50	chr4:77997196-77997246	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77869773..77872075-chr4:77995627..77998726,3	K562	blood:
2	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
3	chr14:39639468..39640157-chr4:77997435..77998034,2	NB4	blood:
4	chr4:77979701..77986849-chr4:77990863..77998763,10	MCF-7	breast:
5	chr4:77994285..77999121-chr4:78003590..78007383,5	K562	blood:
6	chr4:77977102..77979783-chr4:77995512..77998143,3	K562	blood:
7	chr4:77996001..77999161-chr4:78070349..78073053,3	K562	blood:
8	chr4:77997037..77997823-chr7:44621437..44622275,2	NB4	blood:
9	chr2:38603849..38604704-chr4:77996979..77997834,2	Hela-S3	cervix:
10	chr4:77995405..77999334-chr4:78000731..78006327,9	MCF-7	breast:
11	chr4:77975545..77980821-chr4:77994993..77998408,5	MCF-7	breast:
12	chr4:77722957..77725210-chr4:77994122..77996396,2	K562	blood:
13	chr4:77870359..77873653-chr4:77995177..77998877,4	MCF-7	breast:
14	chr4:77869773..77871632-chr4:77995514..77998178,4	K562	blood:
15	chr4:77977197..77979192-chr4:77991457..77995421,4	K562	blood:
16	chr1:211555944..211556496-chr4:77996087..77996921,2	HCT-116	colon:
17	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
18	chr4:77995679..77998060-chr4:78068555..78071849,3	K562	blood:
19	chr4:77973346..77979214-chr4:77995835..77998143,7	K562	blood:
20	chr4:77995650..77999094-chr4:78076501..78080726,6	K562	blood:
21	chr4:77996814..77997584-chr4:78077998..78079227,3	HCT-116	colon:
22	chr4:77997759..78000070-chr4:78123881..78125820,2	MCF-7	breast:
23	chr4:77994543..78000148-chr4:78076403..78082799,9	K562	blood:
24	chr4:77996680..77997613-chr6:159240056..159240623,2	HCT-116	colon:
25	chr4:77975437..77978394-chr4:77996359..77998684,2	MCF-7	breast:
26	chr17:7387322..7388114-chr4:77996722..77997238,2	HCT-116	colon:
27	chr4:77997074..77997728-chr6:26056445..26056982,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPT11-2	chr4:77997130-77999849	NONHSAT097041

Variant related genes	Relation type
CCNI	TF binding region
CCNI	CpG island
ENSG00000181222	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000138758	chromatin interactions
ENSG00000158604	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000182400	chromatin interactions
ENSG00000214062	chromatin interactions
ENSG00000153363	chromatin interactions
ENSG00000118816	chromatin interactions
ENSG00000224218	chromatin interactions
ENSG00000092820	chromatin interactions
ENSG00000138764	chromatin interactions
ENSG00000119787	chromatin interactions
ENSG00000201641	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4252777	chr4:77995307-77995308	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs201316810	chr4:77995308-77995309	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs145348949	chr4:77995327-77995328	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs539270062	chr4:77995355-77995356	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs114953517	chr4:77995387-77995388	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs570163893	chr4:77995416-77995417	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs556555711	chr4:77995424-77995425	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs555797665	chr4:77995458-77995459	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs572502497	chr4:77995459-77995460	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs541696369	chr4:77995501-77995502	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs558183700	chr4:77995504-77995505	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs4252776	chr4:77995516-77995517	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs543657650	chr4:77995558-77995559	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs4252775	chr4:77995574-77995575	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112288302	chr4:77995586-77995587	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs531296338	chr4:77995592-77995593	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs191227063	chr4:77995645-77995646	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs561325136	chr4:77995648-77995649	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs374745511	chr4:77995741-77995742	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs145195796	chr4:77995761-77995762	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs148892392	chr4:77995803-77995804	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs200986732	chr4:77995823-77995824	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs183679407	chr4:77995827-77995828	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs533098647	chr4:77995846-77995847	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs554946746	chr4:77995847-77995848	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs549994010	chr4:77995866-77995867	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs4252774	chr4:77995898-77995899	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78963201	chr4:77995900-77995901	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs4252773	chr4:77995945-77995946	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566031763	chr4:77995947-77995948	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs4252772	chr4:77995958-77995959	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558383190	chr4:77995977-77995978	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs578194275	chr4:77996031-77996032	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs537389046	chr4:77996078-77996079	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs4252771	chr4:77996124-77996125	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs575108036	chr4:77996143-77996144	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs4252770	chr4:77996330-77996331	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs535786569	chr4:77996381-77996382	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs541506848	chr4:77996386-77996387	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs4252769	chr4:77996390-77996391	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs561459867	chr4:77996396-77996397	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs571976733	chr4:77996398-77996399	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs4252768	chr4:77996437-77996438	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs4252767	chr4:77996521-77996522	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs533076684	chr4:77996522-77996523	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs4252766	chr4:77996541-77996542	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs4252765	chr4:77996564-77996565	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs559043587	chr4:77996598-77996599	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs563458808	chr4:77996620-77996621	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs4252764	chr4:77996628-77996629	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77975800-77995600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:77983600-77995400	Weak transcription	Gastric	stomach
3	chr4:77987400-77995400	Weak transcription	Lung	lung
4	chr4:77989400-77995400	Weak transcription	Pancreas	Pancrea
5	chr4:77990600-77995800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:77992000-77995400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:77992000-77995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:77992000-77996200	Weak transcription	Spleen	Spleen
9	chr4:77992000-77998200	Active TSS	GM12878-XiMat	blood
10	chr4:77993200-77996000	Flanking Active TSS	Dnd41	blood
11	chr4:77993400-77996000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr4:77993400-77996000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr4:77993600-77995400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:77993600-77996000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr4:77993600-77996000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr4:77993600-77996000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:77993600-77996200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:77993600-77998200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr4:77993600-77998400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:77993800-77995800	Flanking Active TSS	HUVEC	blood vessel
21	chr4:77993800-77995800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr4:77993800-77995800	Flanking Active TSS	NH-A	brain
23	chr4:77993800-77996000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:77993800-77996000	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr4:77993800-77996000	Flanking Active TSS	Osteobl	bone
26	chr4:77993800-77998600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:77994000-77995400	Flanking Active TSS	HepG2	liver
28	chr4:77994000-77995600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:77994000-77996000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr4:77994000-77996000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr4:77994000-77997800	Active TSS	Ovary	ovary
32	chr4:77994000-77998000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:77994000-77998400	Active TSS	Aorta	Aorta
34	chr4:77994000-77998600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:77994200-77995600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:77994200-77995800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr4:77994200-77995800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr4:77994200-77995800	Flanking Active TSS	Hela-S3	cervix
39	chr4:77994200-77996000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr4:77994200-77996000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:77994200-77996600	Active TSS	Right Atrium	heart
42	chr4:77994200-77998000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:77994200-77998000	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr4:77994200-77998000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:77994200-77998200	Active TSS	HSMMtube	muscle
46	chr4:77994200-77998200	Active TSS	NHDF-Ad	bronchial
47	chr4:77994400-77995400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:77994400-77995400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr4:77994400-77995400	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr4:77994400-77995600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links