Variant report

Variant	rs7340267
Chromosome Location	chr2:37384460-37384461
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	POLR2A	chr2:37383380-37384485	K562	blood:	n/a	n/a
2	MYC	chr2:37383361-37384617	MCF10A-Er-Src	breast:	n/a	chr2:37383686-37383696
3	MYC	chr2:37384101-37384535	NB4	blood:	n/a	n/a
4	POLR2A	chr2:37383474-37384948	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:37383892-37384478	U87	brain:	n/a	n/a
6	RELA	chr2:37383590-37384840	GM15510	blood:	n/a	n/a
7	POLR2A	chr2:37383892-37384518	U87	brain:	n/a	n/a
8	CHD2	chr2:37383519-37384673	Hela-S3	cervix:	n/a	n/a
9	NFIC	chr2:37383936-37384480	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr2:37383730-37384658	HCT-116	colon:	n/a	n/a
11	EP300	chr2:37384170-37384879	HepG2	liver:	n/a	chr2:37384846-37384859
12	POLR2A	chr2:37383172-37385020	GM12878	blood:	n/a	n/a
13	MAX	chr2:37383082-37384701	A549	lung:	n/a	chr2:37383686-37383696
14	RUNX3	chr2:37384025-37384768	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:37383379-37384822	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:37383850-37384491	HUVEC	blood vessel:	n/a	n/a
17	STAT2	chr2:37383258-37384656	K562	blood:	n/a	chr2:37384118-37384129 chr2:37384115-37384130 chr2:37383475-37383487
18	STAT5A	chr2:37384257-37384596	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:37383952-37384939	HepG2	liver:	n/a	n/a
20	MXI1	chr2:37384455-37384489	K562	blood:	n/a	n/a
21	MAX	chr2:37383194-37384582	SK-N-SH	brain:	n/a	chr2:37383686-37383696
22	POLR2A	chr2:37383810-37384470	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:37383335-37384867	GM19193	blood:	n/a	n/a
24	POLR2A	chr2:37383125-37385004	GM12891	blood:	n/a	n/a
25	MAX	chr2:37383942-37384528	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr2:37384057-37384713	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:37383811-37384773	GM10847	blood:	n/a	n/a
28	POLR2A	chr2:37384041-37385052	GM12892	blood:	n/a	n/a
29	HCFC1	chr2:37383108-37384935	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:37383249-37384979	HepG2	liver:	n/a	n/a
31	MAX	chr2:37383279-37384491	Hela-S3	cervix:	n/a	chr2:37383686-37383696
32	WRNIP1	chr2:37384400-37384948	GM12878	blood:	n/a	n/a
33	MAX	chr2:37383989-37384477	MCF-7	breast:	n/a	n/a
34	POLR2A	chr2:37382972-37384947	GM12878	blood:	n/a	n/a
35	MAX	chr2:37383449-37384592	MCF-7	breast:	n/a	chr2:37383686-37383696
36	E2F6	chr2:37383975-37384522	H1-hESC	embryonic stem cell:	n/a	chr2:37384340-37384349 chr2:37384151-37384161
37	POLR2A	chr2:37383725-37384633	HUVEC	blood vessel:	n/a	n/a
38	MAX	chr2:37384054-37384844	GM12878	blood:	n/a	n/a
39	HEY1	chr2:37384018-37384625	HepG2	liver:	n/a	n/a
40	POLR2A	chr2:37383551-37384624	Hela-S3	cervix:	n/a	n/a
41	ELF1	chr2:37383629-37384713	GM12878	blood:	n/a	chr2:37384339-37384351 chr2:37384001-37384013
42	MAX	chr2:37383098-37384978	HepG2	liver:	n/a	chr2:37383686-37383696
43	POLR2A	chr2:37383541-37384467	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr2:37383234-37384995	GM19099	blood:	n/a	n/a
45	FOXA2	chr2:37384429-37384718	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:37384020-37384512	SK-N-MC	brain:	n/a	n/a
47	NR2F2	chr2:37384146-37384810	K562	blood:	n/a	n/a
48	MAX	chr2:37383054-37384888	A549	lung:	n/a	chr2:37383686-37383696
49	STAT2	chr2:37383183-37384941	K562	blood:	n/a	chr2:37384118-37384129 chr2:37384115-37384130 chr2:37383475-37383487
50	MTA3	chr2:37384070-37385107	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37374955..37377720-chr2:37382756..37385654,3	MCF-7	breast:
2	chr2:37373517..37380041-chr2:37380520..37385811,10	MCF-7	breast:
3	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
4	chr2:37372644..37374273-chr2:37382533..37385006,2	K562	blood:
5	chr2:37375493..37378915-chr2:37383921..37387868,3	K562	blood:
6	chr2:37383967..37386325-chr2:37457482..37459560,2	MCF-7	breast:
7	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:

Variant related genes	Relation type
EIF2AK2	TF binding region
ENSG00000115816	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000224891	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000218739	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10187017	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10201149	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11894414	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11894449	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11899117	0.94[ASN][1000 genomes]
rs11904602	0.94[ASN][1000 genomes]
rs12475964	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12619587	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620426	0.86[ASN][1000 genomes]
rs12712526	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12992610	0.96[ASN][1000 genomes]
rs12992818	0.96[ASN][1000 genomes]
rs12994023	0.97[ASN][1000 genomes]
rs12994644	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13008236	0.97[ASN][1000 genomes]
rs13008681	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13020602	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13026696	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13027513	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2014498	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254958	0.84[ASN][1000 genomes]
rs2270414	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3856500	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3936292	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4670662	0.86[ASN][1000 genomes]
rs4670663	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4670664	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4670665	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62133148	0.82[ASN][1000 genomes]
rs7575957	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580127	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7580323	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7580428	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs759667	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7606786	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326671	chr2:37383073-37385621	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 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	chr2:37382600-37384600	Active TSS	Brain Angular Gyrus	brain
2	chr2:37382800-37384600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:37382800-37384600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:37382800-37384600	Active TSS	Fetal Kidney	kidney
5	chr2:37382800-37384600	Active TSS	A549	lung
6	chr2:37382800-37384800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:37383000-37384600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:37383000-37384600	Active TSS	Aorta	Aorta
9	chr2:37383000-37384600	Active TSS	Pancreas	Pancrea
10	chr2:37383000-37384800	Active TSS	HSMM	muscle
11	chr2:37383200-37384600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:37383200-37384600	Active TSS	Left Ventricle	heart
13	chr2:37383200-37384600	Active TSS	Lung	lung
14	chr2:37383200-37384800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:37383200-37384800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:37383200-37384800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr2:37383200-37385000	Active TSS	Ovary	ovary
18	chr2:37383400-37384600	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr2:37383400-37384600	Active TSS	Brain Anterior Caudate	brain
20	chr2:37383400-37384600	Active TSS	Brain Hippocampus Middle	brain
21	chr2:37383400-37384600	Active TSS	Brain Substantia Nigra	brain
22	chr2:37383400-37384600	Active TSS	Colon Smooth Muscle	Colon
23	chr2:37383400-37384600	Active TSS	Fetal Lung	lung
24	chr2:37383400-37384600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:37383400-37384600	Active TSS	Right Ventricle	heart
26	chr2:37383400-37384600	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr2:37383400-37384600	Active TSS	Small Intestine	intestine
28	chr2:37383400-37384600	Active TSS	Spleen	Spleen
29	chr2:37383400-37384600	Active TSS	NHDF-Ad	bronchial
30	chr2:37383400-37384800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr2:37383400-37384800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:37383400-37384800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:37383400-37384800	Active TSS	Psoas Muscle	Psoas
34	chr2:37383400-37384800	Active TSS	Right Atrium	heart
35	chr2:37383600-37384600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:37383600-37384600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:37383600-37384600	Active TSS	Primary T cells from cord blood	blood
38	chr2:37383600-37384600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:37383600-37384600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr2:37383600-37384600	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr2:37383600-37384600	Active TSS	Rectal Smooth Muscle	rectum
42	chr2:37383600-37384600	Bivalent/Poised TSS	HepG2	liver
43	chr2:37383600-37384600	Active TSS	HSMMtube	muscle
44	chr2:37383600-37384600	Active TSS	K562	blood
45	chr2:37383600-37384800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:37383600-37384800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr2:37383600-37384800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:37383600-37384800	Active TSS	Brain Germinal Matrix	brain
49	chr2:37383600-37384800	Active TSS	Fetal Brain Female	brain
50	chr2:37383600-37385000	Active TSS	Stomach Smooth Muscle	stomach

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