Variant report

Variant	rs74091637
Chromosome Location	chr12:57040107-57040108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:431)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr12:57039104-57040247	A549	lung:	n/a	n/a
2	TAF1	chr12:57039442-57040222	HepG2	liver:	n/a	n/a
3	GABPA	chr12:57039134-57040594	A549	lung:	n/a	chr12:57039247-57039254
4	YY1	chr12:57038962-57040250	GM12878	blood:	n/a	n/a
5	REST	chr12:57039408-57040315	A549	lung:	n/a	n/a
6	FOS	chr12:57039689-57040278	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr12:57039680-57040224	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr12:57039138-57040499	Hela-S3	cervix:	n/a	n/a
9	ZNF143	chr12:57039591-57040194	K562	blood:	n/a	n/a
10	SIN3AK20	chr12:57038743-57040397	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:57039112-57040390	SK-N-SH	brain:	n/a	n/a
12	YY1	chr12:57039536-57040253	HCT-116	colon:	n/a	n/a
13	TAF1	chr12:57039496-57040249	GM12892	blood:	n/a	n/a
14	ETS1	chr12:57039163-57040330	A549	lung:	n/a	chr12:57039369-57039378 chr12:57039367-57039380 chr12:57039368-57039377
15	IRF1	chr12:57039292-57040537	K562	blood:	n/a	n/a
16	BCL3	chr12:57039015-57040339	A549	lung:	n/a	n/a
17	PBX3	chr12:57039618-57040145	GM12878	blood:	n/a	chr12:57040000-57040020
18	POLR2A	chr12:57038493-57040510	PBDE	blood:	n/a	n/a
19	MAX	chr12:57038956-57040293	Hela-S3	cervix:	n/a	n/a
20	MAX	chr12:57039900-57040297	K562	blood:	n/a	n/a
21	ATF2	chr12:57039422-57040176	H1-hESC	embryonic stem cell:	n/a	n/a
22	GTF2B	chr12:57039584-57040239	K562	blood:	n/a	n/a
23	POLR2A	chr12:57039468-57040330	GM15510	blood:	n/a	n/a
24	POLR2A	chr12:57039973-57040208	H1-hESC	embryonic stem cell:	n/a	n/a
25	HEY1	chr12:57038837-57040395	K562	blood:	n/a	n/a
26	CEBPB	chr12:57039594-57040293	Hela-S3	cervix:	n/a	n/a
27	NFIC	chr12:57039513-57040261	HepG2	liver:	n/a	n/a
28	CREB1	chr12:57039528-57040388	K562	blood:	n/a	n/a
29	TBL1XR1	chr12:57039497-57040382	GM12878	blood:	n/a	n/a
30	SIN3A	chr12:57038685-57040380	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr12:57038919-57040332	MCF-7	breast:	n/a	n/a
32	SP2	chr12:57039580-57040230	H1-hESC	embryonic stem cell:	n/a	chr12:57039841-57039864 chr12:57039912-57039935 chr12:57039999-57040022
33	TBP	chr12:57039273-57040354	GM12878	blood:	n/a	n/a
34	SPI1	chr12:57039872-57040275	GM12878	blood:	n/a	chr12:57040063-57040072
35	HEY1	chr12:57038512-57040322	K562	blood:	n/a	n/a
36	POLR2A	chr12:57038878-57040322	HL-60	blood:	n/a	n/a
37	SP1	chr12:57039323-57040449	HCT-116	colon:	n/a	chr12:57040053-57040060 chr12:57039938-57039959
38	POLR2A	chr12:57038944-57040426	MCF-7	breast:	n/a	n/a
39	POLR2A	chr12:57038596-57040298	GM12892	blood:	n/a	n/a
40	PBX3	chr12:57039440-57040343	SK-N-SH	brain:	n/a	chr12:57040000-57040020
41	REST	chr12:57038745-57040627	H1-neurons	neurons:	n/a	chr12:57039159-57039167
42	MYC	chr12:57038987-57040356	K562	blood:	n/a	n/a
43	POU2F2	chr12:57039524-57040222	GM12878	blood:	n/a	n/a
44	SP1	chr12:57039204-57040608	A549	lung:	n/a	chr12:57040053-57040060 chr12:57039938-57039959
45	IRF3	chr12:57039710-57040112	HepG2	liver:	n/a	n/a
46	GTF2F1	chr12:57039573-57040171	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:57039491-57040279	H1-hESC	embryonic stem cell:	n/a	n/a
48	IRF1	chr12:57038584-57040345	K562	blood:	n/a	n/a
49	CREB1	chr12:57039573-57040287	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr12:57038942-57040448	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57040061-57040111	T-47D	breast:	n/a
2	chr12:57040061-57040111	HCT-116	colon:	n/a
3	chr12:57040061-57040111	U87	brain:	n/a
4	chr12:57040061-57040111	HNPCEpiC	eye:	n/a
5	chr12:57040061-57040111	AG09319	gingival:	n/a
6	chr12:57040061-57040111	IMR90	lung:	fetal
7	chr12:57040061-57040111	BJ	skin:	n/a
8	chr12:57040061-57040111	PrEC	prostate:	n/a
9	chr12:57040061-57040111	GM12878	blood:	n/a
10	chr12:57040061-57040111	SK-N-SH	brain:	n/a
11	chr12:57040061-57040111	SK-N-MC	brain:	n/a
12	chr12:57040061-57040111	HIPEpiC	eye:	n/a
13	chr12:57040061-57040111	NHBE	bronchial:	n/a
14	chr12:57040061-57040111	PFSK-1	brain:	n/a
15	chr12:57040061-57040111	Caco-2	colon:	n/a
16	chr12:57040061-57040111	AoSMC	blood vessel:	n/a
17	chr12:57040061-57040111	HepG2	liver:	n/a
18	chr12:57040061-57040111	GM19239	blood:	n/a
19	chr12:57040061-57040111	PANC-1	pancreas:	n/a
20	chr12:57040061-57040111	SAEC	small airway:	n/a
21	chr12:57040061-57040111	A549	lung:	n/a
22	chr12:57040061-57040111	HUVEC	blood vessel:	n/a
23	chr12:57040061-57040111	BE2_C	brain:	n/a
24	chr12:57040061-57040111	AG10803	skin:	n/a
25	chr12:57040061-57040111	ovcar-3	ovarian:	n/a
26	chr12:57040061-57040111	Hela-S3	cervix:	n/a
27	chr12:57040061-57040111	HRCEpiC	kidney:	n/a
28	chr12:57040061-57040111	AG04449	skin:	fetal
29	chr12:57040061-57040111	GM06990	blood:	n/a
30	chr12:57040061-57040111	K562	blood:	n/a
31	chr12:57040061-57040111	Hepatocyte	liver:	n/a
32	chr12:57040061-57040111	HAEpiC	amniotic membrane:	n/a
33	chr12:57040061-57040111	HMEC	breast:	n/a
34	chr12:57040061-57040111	NB4	blood:	n/a
35	chr12:57040061-57040111	SK-N-SH_RA	brain:	n/a
36	chr12:57040061-57040111	AG04450	lung:	fetal
37	chr12:57040061-57040111	AG09309	skin:	n/a
38	chr12:57040061-57040111	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:57040061-57040111	RPTEC	kidney:	n/a
40	chr12:57040061-57040111	LNCaP	prostate:	n/a
41	chr12:57040061-57040111	HEEpiC	esophagus:	n/a
42	chr12:57040061-57040111	CMK	blood:	n/a
43	chr12:57040061-57040111	NT2-D1	testis:	n/a
44	chr12:57040061-57040111	NHDF-neo	bronchial:	n/a
45	chr12:57040061-57040111	HRE	kidney:	n/a
46	chr12:57040061-57040111	HCF	heart:	n/a
47	chr12:57040061-57040111	MCF-7	breast:	n/a
48	chr12:57040061-57040111	ProgFib	skin:	n/a
49	chr12:57040061-57040111	GM12892	blood:	n/a
50	chr12:57040061-57040111	H1-hESC	embryonic stem cell:	embryo

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57037257..57041566-chr12:57079256..57083231,8	MCF-7	breast:
2	chr12:57039548..57041575-chr12:57144187..57146304,2	K562	blood:
3	chr12:57038492..57040829-chr17:56708884..56710598,2	MCF-7	breast:
4	chr12:56509603..56512035-chr12:57038748..57040490,2	K562	blood:
5	chr12:57037950..57041719-chr12:57080496..57084678,10	K562	blood:
6	chr12:57037775..57040917-chr12:57144043..57146588,3	MCF-7	breast:
7	chr12:57037903..57040646-chr12:57144102..57147965,5	K562	blood:
8	chr12:57039913..57040491-chr15:45003597..45004451,2	Hela-S3	cervix:
9	chr12:57039721..57040349-chr5:271315..272197,2	Hela-S3	cervix:
10	chr12:57035919..57041993-chr12:57078486..57083961,15	MCF-7	breast:
11	chr12:57039722..57040613-chr3:126373408..126374352,2	HCT-116	colon:
12	chr12:57039590..57040397-chr5:41925363..41926081,2	Hela-S3	cervix:
13	chr12:57036938..57041843-chr12:57115310..57120529,12	K562	blood:
14	chr12:57038025..57041646-chr12:57113711..57120620,12	MCF-7	breast:
15	chr12:57035906..57041425-chr12:57115344..57122353,14	K562	blood:
16	chr12:57037718..57040300-chr12:57063867..57067067,3	MCF-7	breast:
17	chr12:57039950..57040480-chr17:73775413..73776167,2	Hela-S3	cervix:
18	chr12:57037416..57042033-chr12:57076746..57084678,17	K562	blood:
19	chr12:57022927..57025378-chr12:57037788..57040266,3	K562	blood:
20	chr12:57039391..57040349-chrX:118698856..118699446,2	Hela-S3	cervix:
21	chr12:57036857..57041663-chr12:57115375..57121628,17	MCF-7	breast:
22	chr12:57039512..57040370-chr17:49243132..49244080,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ATP5B	TF binding region
SNORD59A	TF binding region
ATP5B	CpG island
SNORD59A	CpG island
ENSG00000243678	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000197763	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000241217	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000249915	Chromatin interaction
ENSG00000018610	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000248925	Chromatin interaction
ENSG00000151876	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10876912	0.84[EUR][1000 genomes]
rs11171909	0.84[EUR][1000 genomes]
rs11171910	0.84[EUR][1000 genomes]
rs11829496	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11831054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833282	0.83[AFR][1000 genomes]
rs11838315	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12312913	0.84[EUR][1000 genomes]
rs12314491	0.84[EUR][1000 genomes]
rs12321649	0.84[EUR][1000 genomes]
rs1527140	0.84[EUR][1000 genomes]
rs17118865	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118901	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118921	0.82[EUR][1000 genomes]
rs17444925	0.91[EUR][1000 genomes]
rs17541679	0.91[EUR][1000 genomes]
rs1800638	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4262757	0.82[EUR][1000 genomes]
rs55962252	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57406430	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59711560	0.84[EUR][1000 genomes]
rs60574031	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7136370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307573	0.82[EUR][1000 genomes]
rs7307578	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095026	1.00[EUR][1000 genomes]
rs7954160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956952	0.91[EUR][1000 genomes]
rs7958515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974103	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974600	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs941210	0.84[EUR][1000 genomes]
rs9738534	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57036800-57040400	Active TSS	Right Atrium	heart
2	chr12:57037400-57040400	Active TSS	Psoas Muscle	Psoas
3	chr12:57037800-57040400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:57038000-57040400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:57038200-57040400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:57038400-57040200	Active TSS	Stomach Mucosa	stomach
7	chr12:57038400-57040400	Active TSS	Left Ventricle	heart
8	chr12:57038400-57040400	Active TSS	Ovary	ovary
9	chr12:57038400-57040600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:57038400-57040600	Active TSS	HSMMtube	muscle
11	chr12:57038600-57040200	Active TSS	Esophagus	oesophagus
12	chr12:57038600-57040200	Active TSS	Placenta Amnion	Placenta Amnion
13	chr12:57038600-57040200	Active TSS	Small Intestine	intestine
14	chr12:57038600-57040400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:57038600-57040400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:57038600-57040400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:57038600-57040400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:57038600-57040400	Active TSS	Aorta	Aorta
19	chr12:57038600-57040600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:57038800-57040200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:57038800-57040200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:57038800-57040200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:57038800-57040200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:57038800-57040200	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr12:57038800-57040200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:57038800-57040200	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr12:57038800-57040200	Active TSS	Colonic Mucosa	Colon
28	chr12:57038800-57040200	Active TSS	Colon Smooth Muscle	Colon
29	chr12:57038800-57040200	Active TSS	Duodenum Mucosa	Duodenum
30	chr12:57038800-57040200	Active TSS	Fetal Brain Male	brain
31	chr12:57038800-57040200	Active TSS	Fetal Heart	heart
32	chr12:57038800-57040200	Active TSS	Fetal Intestine Large	intestine
33	chr12:57038800-57040200	Active TSS	Fetal Lung	lung
34	chr12:57038800-57040200	Active TSS	Fetal Stomach	stomach
35	chr12:57038800-57040200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:57038800-57040200	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr12:57038800-57040400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr12:57038800-57040400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:57038800-57040400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:57038800-57040400	Active TSS	Osteobl	bone
41	chr12:57038800-57040600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr12:57038800-57040600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:57038800-57040600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:57038800-57040600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:57039000-57040200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:57039000-57040200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:57039000-57040200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:57039000-57040200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:57039000-57040200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr12:57039000-57040200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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