Variant report

Variant	rs963615
Chromosome Location	chr5:57755936-57755937
allele	A/G
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	MAX	chr5:57755462-57757152	HCT-116	colon:	n/a	chr5:57756022-57756031
2	SIN3AK20	chr5:57755762-57755955	HepG2	liver:	n/a	n/a
3	TAF1	chr5:57755127-57756430	MCF-7	breast:	n/a	n/a
4	ATF3	chr5:57755561-57756088	A549	lung:	n/a	n/a
5	MAX	chr5:57755455-57756969	HepG2	liver:	n/a	chr5:57756022-57756031
6	RAD21	chr5:57754174-57757575	SK-N-SH	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
7	USF1	chr5:57755666-57756096	A549	lung:	n/a	n/a
8	POLR2A	chr5:57755502-57756815	GM18526	blood:	n/a	n/a
9	POLR2A	chr5:57755649-57756244	HCT-116	colon:	n/a	n/a
10	TAF1	chr5:57755612-57756571	HepG2	liver:	n/a	n/a
11	REST	chr5:57755634-57756042	HepG2	liver:	n/a	n/a
12	MXI1	chr5:57755749-57757017	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr5:57754101-57757035	IMR90	lung:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
14	POLR2A	chr5:57755755-57756048	GM12892	blood:	n/a	n/a
15	POLR2A	chr5:57755694-57756042	GM12878	blood:	n/a	n/a
16	RAD21	chr5:57755686-57757046	Hela-S3	cervix:	n/a	chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
17	MYC	chr5:57755797-57756142	MCF10A-Er-Src	breast:	n/a	chr5:57756022-57756031
18	RAD21	chr5:57755489-57757166	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
19	RAD21	chr5:57754889-57756996	SK-N-SH_RA	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
20	POLR2A	chr5:57755230-57756816	A549	lung:	n/a	n/a
21	SP4	chr5:57755763-57756197	H1-hESC	embryonic stem cell:	n/a	chr5:57755957-57755968 chr5:57755953-57755969 chr5:57755946-57755957
22	REST	chr5:57754597-57756257	H1-neurons	neurons:	n/a	n/a
23	TAF1	chr5:57755393-57756501	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr5:57745705-57757136	HUVEC	blood vessel:	n/a	n/a
25	CHD2	chr5:57754650-57756867	Hela-S3	cervix:	n/a	n/a
26	MAX	chr5:57755452-57757190	ECC-1	luminal epithelium:	n/a	chr5:57756022-57756031
27	CREB1	chr5:57755653-57756464	ECC-1	luminal epithelium:	n/a	n/a
28	CTCF	chr5:57755720-57757022	IMR90	lung:	n/a	chr5:57756239-57756248 chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756238-57756251 chr5:57756235-57756248 chr5:57756738-57756756 chr5:57756733-57756754
29	POLR2A	chr5:57755477-57756067	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr5:57755681-57756351	Hela-S3	cervix:	n/a	n/a
31	EP300	chr5:57754512-57757000	A549	lung:	n/a	chr5:57756094-57756103
32	RAD21	chr5:57755558-57756046	MCF-7	breast:	n/a	chr5:57755955-57755967
33	TEAD4	chr5:57755597-57756082	A549	lung:	n/a	n/a
34	E2F4	chr5:57755741-57756716	MCF10A-Er-Src	breast:	n/a	chr5:57755947-57755959 chr5:57756117-57756129 chr5:57756045-57756057
35	REST	chr5:57755695-57756065	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr5:57755671-57756895	GM19099	blood:	n/a	n/a
37	POLR2A	chr5:57755714-57756128	HL-60	blood:	n/a	n/a
38	BHLHE40	chr5:57755680-57756035	HepG2	liver:	n/a	n/a
39	PBX3	chr5:57755580-57756983	SK-N-SH	brain:	n/a	chr5:57756617-57756637
40	NFIC	chr5:57755422-57756892	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr5:57755626-57756207	PBDE	blood:	n/a	n/a
42	ZNF143	chr5:57755248-57757041	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:57754179-57756864	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr5:57746016-57757149	HUVEC	blood vessel:	n/a	n/a
45	RAD21	chr5:57755132-57757160	MCF-7	breast:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
46	RAD21	chr5:57754545-57757114	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
47	SIN3AK20	chr5:57755393-57756048	A549	lung:	n/a	n/a
48	PRDM1	chr5:57755739-57756079	Hela-S3	cervix:	n/a	chr5:57755910-57755925
49	TEAD4	chr5:57755749-57756284	H1-hESC	embryonic stem cell:	n/a	n/a
50	SP1	chr5:57755470-57757092	A549	lung:	n/a	chr5:57755998-57756010 chr5:57755999-57756008 chr5:57756227-57756236 chr5:57755957-57755968 chr5:57756000-57756009 chr5:57755954-57755968 chr5:57755958-57755967 chr5:57756622-57756631 chr5:57755999-57756008 chr5:57756226-57756235 chr5:57755998-57756010 chr5:57755999-57756009 chr5:57756620-57756632 chr5:57755957-57755969 chr5:57756621-57756630 chr5:57755946-57755957

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:57755923-57755973	PFSK-1	brain:	n/a
2	chr5:57755923-57755973	PANC-1	pancreas:	n/a
3	chr5:57755923-57755973	PrEC	prostate:	n/a
4	chr5:57755923-57755973	T-47D	breast:	n/a
5	chr5:57755923-57755973	U87	brain:	n/a
6	chr5:57755923-57755973	GM19239	blood:	n/a
7	chr5:57755923-57755973	NB4	blood:	n/a
8	chr5:57755923-57755973	AoSMC	blood vessel:	n/a
9	chr5:57755923-57755973	AG09309	skin:	n/a
10	chr5:57755923-57755973	GM12891	blood:	n/a
11	chr5:57755923-57755973	HepG2	liver:	n/a
12	chr5:57755923-57755973	MCF-7	breast:	n/a
13	chr5:57755923-57755973	MCF10A-Er-Src	breast:	n/a
14	chr5:57755923-57755973	HMEC	breast:	n/a
15	chr5:57755923-57755973	Hepatocyte	liver:	n/a
16	chr5:57755923-57755973	Caco-2	colon:	n/a
17	chr5:57755923-57755973	HL-60	blood:	n/a
18	chr5:57755923-57755973	BJ	skin:	n/a
19	chr5:57755923-57755973	RPTEC	kidney:	n/a
20	chr5:57755923-57755973	NT2-D1	testis:	n/a
21	chr5:57755923-57755973	SAEC	small airway:	n/a
22	chr5:57755923-57755973	HCT-116	colon:	n/a
23	chr5:57755923-57755973	HIPEpiC	eye:	n/a
24	chr5:57755923-57755973	AG09319	gingival:	n/a
25	chr5:57755923-57755973	ProgFib	skin:	n/a
26	chr5:57755923-57755973	K562	blood:	n/a
27	chr5:57755923-57755973	GM06990	blood:	n/a
28	chr5:57755923-57755973	HRCEpiC	kidney:	n/a
29	chr5:57755923-57755973	HRPEpiC	eye:	n/a
30	chr5:57755923-57755973	BE2_C	brain:	n/a
31	chr5:57755923-57755973	HCF	heart:	n/a
32	chr5:57755923-57755973	AG10803	skin:	n/a
33	chr5:57755923-57755973	HEEpiC	esophagus:	n/a
34	chr5:57755923-57755973	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:57755923-57755973	HEK293	kidney:	embryo
36	chr5:57755923-57755973	GM12878	blood:	n/a
37	chr5:57755923-57755973	CMK	blood:	n/a
38	chr5:57755923-57755973	HUVEC	blood vessel:	n/a
39	chr5:57755923-57755973	SKMC	muscle:	n/a
40	chr5:57755923-57755973	NHBE	bronchial:	n/a
41	chr5:57755923-57755973	ECC-1	luminal epithelium:	n/a
42	chr5:57755923-57755973	SK-N-SH	brain:	n/a
43	chr5:57755923-57755973	HCM	heart:	n/a
44	chr5:57755923-57755973	NH-A	brain:	n/a
45	chr5:57755923-57755973	H1-hESC	embryonic stem cell:	embryo
46	chr5:57755923-57755973	Hela-S3	cervix:	n/a
47	chr5:57755923-57755973	Jurkat	blood:	n/a
48	chr5:57755923-57755973	LNCaP	prostate:	n/a
49	chr5:57755923-57755973	AG04449	skin:	fetal
50	chr5:57755923-57755973	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:57754151..57755936-chr7:55433318..55434853,2	MCF-7	breast:
2	chr20:42086071..42087018-chr5:57755652..57756175,2	MCF-7	breast:
3	chr1:70820185..70820796-chr5:57755458..57756161,2	Hela-S3	cervix:
4	chr1:8937566..8938548-chr5:57755874..57756660,2	Hela-S3	cervix:
5	chr5:43483590..43484682-chr5:57755358..57756317,3	Hela-S3	cervix:
6	chr1:161102239..161102759-chr5:57755529..57756269,2	Hela-S3	cervix:
7	chr17:56707798..56710603-chr5:57755406..57757452,2	MCF-7	breast:
8	chr17:57923573..57925801-chr5:57753845..57756826,2	MCF-7	breast:
9	chr5:57364074..57376813-chr5:57753679..57758569,26	MCF-7	breast:
10	chr13:45914599..45915531-chr5:57755434..57756066,2	Hela-S3	cervix:
11	chr4:122721925..122722763-chr5:57755619..57756423,2	HCT-116	colon:
12	chr5:57168184..57169711-chr5:57754494..57756798,2	MCF-7	breast:
13	chr11:67272949..67273778-chr5:57755428..57756176,2	Hela-S3	cervix:
14	chr5:57755500..57756258-chr6:26157554..26158450,2	Hela-S3	cervix:
15	chr1:11968161..11969978-chr5:57755723..57757847,2	MCF-7	breast:
16	chr5:57754652..57757569-chr8:146051207..146054086,2	MCF-7	breast:
17	chr19:45349020..45349868-chr5:57755580..57756191,2	Hela-S3	cervix:

Variant related genes	Relation type
PLK2	TF binding region
PLK2	CpG island
ENSG00000130202	Chromatin interaction
ENSG00000124193	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000197568	Chromatin interaction
ENSG00000133112	Chromatin interaction
ENSG00000170919	Chromatin interaction
ENSG00000266864	Chromatin interaction
ENSG00000132434	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000236269	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000118454	Chromatin interaction
ENSG00000123737	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000147789	Chromatin interaction
ENSG00000074800	Chromatin interaction
ENSG00000238899	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11739694	1.00[ASN][1000 genomes]
rs11741689	1.00[ASN][1000 genomes]
rs11746501	1.00[ASN][1000 genomes]
rs11747268	1.00[ASN][1000 genomes]
rs11747708	1.00[ASN][1000 genomes]
rs11948189	1.00[ASN][1000 genomes]
rs11949041	1.00[ASN][1000 genomes]
rs11949753	1.00[ASN][1000 genomes]
rs11950095	1.00[ASN][1000 genomes]
rs11957466	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958256	1.00[ASN][1000 genomes]
rs11958495	0.95[EUR][1000 genomes]
rs12188785	1.00[ASN][1000 genomes]
rs12518781	1.00[ASN][1000 genomes]
rs13159762	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168504	1.00[ASN][1000 genomes]
rs13168895	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174477	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176857	0.92[EUR][1000 genomes]
rs13184050	0.85[ASN][1000 genomes]
rs15915	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605739	1.00[ASN][1000 genomes]
rs1605740	1.00[ASN][1000 genomes]
rs17773396	1.00[ASN][1000 genomes]
rs4700297	1.00[ASN][1000 genomes]
rs57844100	0.92[ASN][1000 genomes]
rs59598546	1.00[ASN][1000 genomes]
rs62366360	1.00[ASN][1000 genomes]
rs62366396	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366397	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366400	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366401	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366402	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366403	1.00[ASN][1000 genomes]
rs62366404	1.00[ASN][1000 genomes]
rs62366441	1.00[ASN][1000 genomes]
rs62366446	1.00[ASN][1000 genomes]
rs62366447	1.00[ASN][1000 genomes]
rs62366448	1.00[ASN][1000 genomes]
rs62367805	0.85[ASN][1000 genomes]
rs6870990	1.00[ASN][1000 genomes]
rs6889999	1.00[ASN][1000 genomes]
rs697133	0.91[AFR][1000 genomes]
rs697139	0.91[AFR][1000 genomes]
rs697140	0.91[AFR][1000 genomes]
rs702723	0.91[AFR][1000 genomes]
rs726842	0.95[EUR][1000 genomes]
rs7721366	0.92[ASN][1000 genomes]
rs832626	0.92[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332078	chr5:57754795-57756793	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
2	esv3437453	chr5:57755020-57757568	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57750000-57756800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:57750800-57756800	Active TSS	Right Atrium	heart
3	chr5:57751000-57756800	Active TSS	Brain Angular Gyrus	brain
4	chr5:57751600-57756800	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:57751600-57756800	Active TSS	Right Ventricle	heart
6	chr5:57751600-57757000	Active TSS	Brain Hippocampus Middle	brain
7	chr5:57751800-57756800	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:57752000-57756600	Active TSS	Aorta	Aorta
9	chr5:57752200-57756200	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:57752200-57756800	Active TSS	Fetal Stomach	stomach
11	chr5:57752200-57756800	Active TSS	Lung	lung
12	chr5:57752200-57756800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr5:57753000-57756800	Active TSS	Esophagus	oesophagus
14	chr5:57753200-57756200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:57753200-57756400	Active TSS	Duodenum Mucosa	Duodenum
16	chr5:57753400-57756600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:57753400-57756600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:57753400-57756800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:57753400-57756800	Active TSS	Psoas Muscle	Psoas
20	chr5:57753600-57756200	Active TSS	Colonic Mucosa	Colon
21	chr5:57753600-57756800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr5:57753600-57756800	Active TSS	NHDF-Ad	bronchial
23	chr5:57753600-57757000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:57753800-57756200	Active TSS	Placenta Amnion	Placenta Amnion
25	chr5:57753800-57756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:57753800-57756800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr5:57754000-57756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:57754200-57756600	Active TSS	Gastric	stomach
29	chr5:57754200-57756600	Active TSS	Stomach Mucosa	stomach
30	chr5:57754200-57756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:57754200-57756800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr5:57754200-57756800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:57754200-57756800	Active TSS	Colon Smooth Muscle	Colon
34	chr5:57754200-57757000	Active TSS	Pancreas	Pancrea
35	chr5:57754400-57756000	Active TSS	Fetal Heart	heart
36	chr5:57754400-57756200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:57754400-57756200	Active TSS	Fetal Lung	lung
38	chr5:57754400-57756200	Active TSS	NHLF	lung
39	chr5:57754400-57756400	Active TSS	Fetal Muscle Trunk	muscle
40	chr5:57754400-57756800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr5:57754400-57756800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:57754400-57756800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:57754400-57756800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:57754400-57756800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr5:57754400-57756800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr5:57754400-57756800	Active TSS	Fetal Muscle Leg	muscle
47	chr5:57754400-57756800	Active TSS	Left Ventricle	heart
48	chr5:57754400-57756800	Active TSS	Ovary	ovary
49	chr5:57754400-57756800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr5:57754400-57756800	Active TSS	Skeletal Muscle Female	skeletal muscle

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