Variant report

Variant	esv3429077
Chromosome Location	chr5:179635146-179637594
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	BACH1	chr5:179636266-179636486	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr5:179635456-179635812	K562	blood:	n/a	chr5:179635762-179635778
3	BHLHE40	chr5:179636064-179636339	HepG2	liver:	n/a	n/a
4	BHLHE40	chr5:179636135-179636335	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:179636050-179636406	K562	blood:	n/a	chr5:179636361-179636377
6	CBX3	chr5:179635449-179635868	K562	blood:	n/a	n/a
7	CCNT2	chr5:179635769-179635811	K562	blood:	n/a	n/a
8	CCNT2	chr5:179636115-179636506	K562	blood:	n/a	n/a
9	CEBPB	chr5:179636231-179636244	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr5:179636041-179636388	IMR90	lung:	n/a	n/a
11	CREB1	chr5:179636101-179636456	A549	lung:	n/a	n/a
12	CTCF	chr5:179635660-179635810	HMEC	breast:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
13	CTCF	chr5:179635640-179635790	AG10803	skin:	n/a	chr5:179635758-179635767
14	CTCF	chr5:179636200-179636350	AoAF	blood vessel:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
15	CTCF	chr5:179635640-179635790	HFF-Myc	foreskin:	n/a	chr5:179635758-179635767
16	CTCF	chr5:179636180-179636330	K562	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
17	CTCF	chr5:179636180-179636330	AoAF	blood vessel:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
18	CTCF	chr5:179635600-179635613	ProgFib	skin:	n/a	n/a
19	CTCF	chr5:179636180-179636470	GM12865	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
20	CTCF	chr5:179635684-179635889	Pancreas_OC	pancreas:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
21	CTCF	chr5:179636106-179636409	H1-hESC	embryonic stem cell:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
22	CTCF	chr5:179636460-179636610	AG04450	lung:	n/a	chr5:179636469-179636478
23	CTCF	chr5:179635640-179635790	NHDF-neo	bronchial:	n/a	chr5:179635758-179635767
24	CTCF	chr5:179636180-179636330	HBMEC	blood vessel:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
25	CTCF	chr5:179636140-179636290	Hela-S3	cervix:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
26	CTCF	chr5:179636180-179636330	SK-N-SH_RA	brain:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
27	CTCF	chr5:179635700-179635850	GM12870	blood:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
28	CTCF	chr5:179635700-179635850	HUVEC	blood vessel:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
29	CTCF	chr5:179635680-179635830	AG04449	skin:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
30	CTCF	chr5:179636120-179636270	HRPEpiC	eye:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
31	CTCF	chr5:179635670-179635808	A549	lung:	n/a	chr5:179635758-179635767
32	CTCF	chr5:179635476-179636641	K562	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636469-179636478 chr5:179635758-179635767 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231 chr5:179635796-179635809
33	CTCF	chr5:179635680-179635830	HBMEC	blood vessel:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
34	CTCF	chr5:179636160-179636310	HCFaa	heart:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
35	CTCF	chr5:179636100-179636250	AG10803	skin:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
36	CTCF	chr5:179635700-179635850	HPAF	blood vessel:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
37	CTCF	chr5:179635740-179635890	HCT-116	colon:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
38	CTCF	chr5:179635999-179636453	H1-hESC	embryonic stem cell:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
39	CTCF	chr5:179635660-179635810	HCPEpiC	choroid plexus:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
40	CTCF	chr5:179636136-179636353	GM12878	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
41	CTCF	chr5:179636180-179636330	HUVEC	blood vessel:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
42	CTCF	chr5:179636120-179636270	RPTEC	kidney:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
43	CTCF	chr5:179636140-179636290	GM12871	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
44	CTCF	chr5:179635520-179635670	HMF	breast:	n/a	n/a
45	CTCF	chr5:179636142-179636287	ECC-1	luminal epithelium:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
46	CTCF	chr5:179636095-179636369	T-47D	breast:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
47	CTCF	chr5:179635700-179635850	HAc	cerebellar:	n/a	chr5:179635758-179635767 chr5:179635796-179635809
48	CTCF	chr5:179636180-179636330	SAEC	small airway:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
49	CTCF	chr5:179635623-179636437	K562	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179635758-179635767 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231 chr5:179635796-179635809
50	CTCF	chr5:179635672-179635847	MCF-7	breast:	n/a	chr5:179635758-179635767 chr5:179635796-179635809

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179635981-179636031	HRPEpiC	eye:	n/a
2	chr5:179635981-179636031	HRPEpiC	eye:	n/a
3	chr5:179636443-179636493	GM12878	blood:	n/a
4	chr5:179636443-179636493	GM19239	blood:	n/a
5	chr5:179636422-179636472	RPTEC	kidney:	n/a
6	chr5:179635979-179636029	ovcar-3	ovarian:	n/a
7	chr5:179636617-179636667	HUVEC	blood vessel:	n/a
8	chr5:179635981-179636031	NHBE	bronchial:	n/a
9	chr5:179636617-179636667	HCM	heart:	n/a
10	chr5:179636443-179636493	NHBE	bronchial:	n/a
11	chr5:179636422-179636472	NT2-D1	testis:	n/a
12	chr5:179635540-179635590	SK-N-SH	brain:	n/a
13	chr5:179635979-179636029	SK-N-MC	brain:	n/a
14	chr5:179636617-179636667	NHDF-neo	bronchial:	n/a
15	chr5:179636617-179636667	NHBE	bronchial:	n/a
16	chr5:179636283-179636333	MCF10A-Er-Src	breast:	n/a
17	chr5:179635979-179636029	PFSK-1	brain:	n/a
18	chr5:179636443-179636493	HRPEpiC	eye:	n/a
19	chr5:179636422-179636472	HCF	heart:	n/a
20	chr5:179636617-179636667	T-47D	breast:	n/a
21	chr5:179635981-179636031	GM06990	blood:	n/a
22	chr5:179635540-179635590	MCF10A-Er-Src	breast:	n/a
23	chr5:179635981-179636031	HUVEC	blood vessel:	n/a
24	chr5:179635731-179635781	GM12878	blood:	n/a
25	chr5:179636283-179636333	AG09309	skin:	n/a
26	chr5:179636283-179636333	SKMC	muscle:	n/a
27	chr5:179636443-179636493	Caco-2	colon:	n/a
28	chr5:179635981-179636031	HL-60	blood:	n/a
29	chr5:179636443-179636493	HRCEpiC	kidney:	n/a
30	chr5:179636617-179636667	ovcar-3	ovarian:	n/a
31	chr5:179636617-179636667	PrEC	prostate:	n/a
32	chr5:179636283-179636333	HEK293	kidney:	embryo
33	chr5:179636443-179636493	HEK293	kidney:	embryo
34	chr5:179635540-179635590	HCT-116	colon:	n/a
35	chr5:179636422-179636472	HEK293	kidney:	embryo
36	chr5:179635981-179636031	HCF	heart:	n/a
37	chr5:179635540-179635590	GM19239	blood:	n/a
38	chr5:179636443-179636493	PrEC	prostate:	n/a
39	chr5:179635981-179636031	HEEpiC	esophagus:	n/a
40	chr5:179636617-179636667	HEK293	kidney:	embryo
41	chr5:179635981-179636031	ovcar-3	ovarian:	n/a
42	chr5:179636283-179636333	ProgFib	skin:	n/a
43	chr5:179635981-179636031	SK-N-SH_RA	brain:	n/a
44	chr5:179636443-179636493	Hepatocyte	liver:	n/a
45	chr5:179636283-179636333	GM12892	blood:	n/a
46	chr5:179635979-179636029	U87	brain:	n/a
47	chr5:179635540-179635590	HMEC	breast:	n/a
48	chr5:179636443-179636493	U87	brain:	n/a
49	chr5:179636443-179636493	Jurkat	blood:	n/a
50	chr5:179635979-179636029	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179633482..179636303-chr5:179718045..179719781,2	K562	blood:
2	chr5:179622475..179625183-chr5:179637307..179639559,2	K562	blood:
3	chr5:179633062..179635561-chr5:179636902..179639752,2	MCF-7	breast:
4	chr5:179413434..179413943-chr5:179636169..179636674,2	K562	blood:
5	chr5:179297336..179298161-chr5:179635822..179636672,3	K562	blood:
6	chr5:179636157..179639359-chr5:179641461..179644523,3	MCF-7	breast:
7	chr5:179636707..179638288-chr5:179719387..179722182,2	MCF-7	breast:
8	chr5:179633062..179635561-chr5:179636902..179639752,2	MCF-7	breast:
9	chr17:11900847..11902529-chr5:179633459..179635305,2	MCF-7	breast:
10	chr5:179636340..179638403-chr5:179650637..179652737,2	K562	blood:

Variant related genes	Relation type
RASGEF1C	TF binding region
RASGEF1C	CpG island
ENSG00000050748	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000197226	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114434903	chr5:179635167-179635168	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs59869821	chr5:179635224-179635225	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192452515	chr5:179635229-179635230	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147810650	chr5:179635232-179635233	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13153871	chr5:179635236-179635237	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374034318	chr5:179635293-179635294	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367947127	chr5:179635294-179635295	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573026437	chr5:179635325-179635326	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370167211	chr5:179635398-179635399	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578103859	chr5:179635423-179635424	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545536332	chr5:179635431-179635432	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563639412	chr5:179635438-179635439	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6878432	chr5:179635483-179635484	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183844039	chr5:179635517-179635518	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs6879640	chr5:179635522-179635523	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369567849	chr5:179635531-179635532	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528426314	chr5:179635537-179635538	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80053506	chr5:179635540-179635541	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187367998	chr5:179635548-179635549	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563097976	chr5:179635569-179635570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372781473	chr5:179635570-179635571	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191905190	chr5:179635578-179635579	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550712704	chr5:179635668-179635669	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6864789	chr5:179635705-179635706	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535917037	chr5:179635712-179635713	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547810405	chr5:179635713-179635714	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566116171	chr5:179635863-179635864	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112789574	chr5:179635916-179635917	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530329105	chr5:179635918-179635919	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs535026293	chr5:179635946-179635947	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs7723989	chr5:179636013-179636014	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs578165911	chr5:179636116-179636117	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538873512	chr5:179636119-179636120	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112766422	chr5:179636199-179636200	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs557501536	chr5:179636237-179636238	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs575676298	chr5:179636249-179636250	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs199518296	chr5:179636262-179636263	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs543125141	chr5:179636284-179636285	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs561303418	chr5:179636305-179636306	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200630632	chr5:179636316-179636317	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs141223431	chr5:179636319-179636320	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs150306837	chr5:179636332-179636333	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs565045175	chr5:179636371-179636372	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs36062422	chr5:179636372-179636373	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376895561	chr5:179636377-179636378	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544101359	chr5:179636381-179636382	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562681904	chr5:179636382-179636383	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186899836	chr5:179636396-179636397	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs146438264	chr5:179636430-179636431	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374242921	chr5:179636439-179636440	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179620600-179635400	Weak transcription	Right Atrium	heart
2	chr5:179631800-179635200	Weak transcription	Hela-S3	cervix
3	chr5:179634200-179635400	Enhancers	Fetal Brain Male	brain
4	chr5:179634400-179635200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr5:179634400-179636600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:179634600-179635400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:179634600-179635400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr5:179634600-179635600	Bivalent Enhancer	Esophagus	oesophagus
9	chr5:179634600-179636800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr5:179634800-179635200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr5:179634800-179635200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:179634800-179635200	Bivalent Enhancer	Brain Germinal Matrix	brain
13	chr5:179634800-179635200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr5:179634800-179635200	Bivalent Enhancer	Fetal Stomach	stomach
15	chr5:179634800-179635400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:179634800-179635400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:179634800-179635400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr5:179634800-179635400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:179634800-179635400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:179634800-179635400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:179634800-179635400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:179634800-179635400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:179634800-179635400	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr5:179634800-179635400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:179634800-179635400	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr5:179634800-179635400	Bivalent Enhancer	Fetal Lung	lung
27	chr5:179634800-179635600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:179634800-179635800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr5:179634800-179635800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr5:179634800-179635800	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr5:179634800-179636000	Enhancers	Fetal Heart	heart
32	chr5:179634800-179636400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr5:179634800-179636600	Enhancers	Gastric	stomach
34	chr5:179634800-179636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr5:179635000-179635200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:179635000-179635200	Active TSS	Brain Angular Gyrus	brain
37	chr5:179635000-179635200	Flanking Active TSS	Pancreas	Pancrea
38	chr5:179635000-179635200	Flanking Active TSS	Right Ventricle	heart
39	chr5:179635000-179635400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr5:179635000-179635400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
41	chr5:179635000-179635600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:179635000-179635600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
43	chr5:179635000-179635600	Enhancers	Ovary	ovary
44	chr5:179635000-179635600	Bivalent Enhancer	Spleen	Spleen
45	chr5:179635000-179635800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:179635000-179635800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr5:179635000-179635800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr5:179635000-179635800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr5:179635000-179635800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr5:179635000-179635800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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