Variant report

Variant	rs7526347
Chromosome Location	chr1:220961353-220961354
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	chr1:220958619-220961999	Hela-S3	cervix:	n/a	n/a
2	TCF7L2	chr1:220959780-220962626	Hela-S3	cervix:	n/a	n/a
3	GTF3C2	chr1:220960963-220961808	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr1:220961200-220961363	HepG2	liver:	n/a	chr1:220961300-220961311
5	CEBPB	chr1:220961351-220961386	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:220959476-220961466	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:220959718-220961984	Hela-S3	cervix:	n/a	chr1:220961300-220961311
8	RPC155	chr1:220960854-220962285	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
2	chr1:220932972..220935057-chr1:220960206..220962159,2	MCF-7	breast:
3	chr1:220956374..220960540-chr1:220960774..220963878,4	K562	blood:
4	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:
5	chr1:220443657..220445570-chr1:220960265..220962335,2	MCF-7	breast:

Variant related genes	Relation type
MARC1	TF binding region
ENSG00000186205	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11118601	0.86[AMR][1000 genomes]
rs3820354	0.85[ASN][1000 genomes]
rs3820356	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57298117	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58327003	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58438675	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59234976	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6541159	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6682431	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6683301	0.83[ASN][1000 genomes]
rs6701709	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72470566	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72470578	0.88[AMR][1000 genomes]
rs72470579	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72470580	0.88[AMR][1000 genomes]
rs72470582	0.88[AMR][1000 genomes]
rs7537305	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs868494	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9970238	0.84[AMR][1000 genomes]

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220959000-220962000	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr1:220959200-220962600	Enhancers	Fetal Brain Male	brain
3	chr1:220959400-220961400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:220959400-220961800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:220959600-220961400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:220959600-220961400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:220959600-220961400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:220959600-220961400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:220959600-220961400	Active TSS	Brain Angular Gyrus	brain
10	chr1:220959600-220961400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:220959600-220961600	Active TSS	HepG2	liver
12	chr1:220959600-220961800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:220959800-220961600	Active TSS	Brain Germinal Matrix	brain
14	chr1:220959800-220961600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:220959800-220961800	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:220960000-220961400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:220960000-220961600	Active TSS	Fetal Brain Female	brain
18	chr1:220960000-220961600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:220960000-220962000	Active TSS	Hela-S3	cervix
20	chr1:220960200-220961400	Active TSS	Duodenum Mucosa	Duodenum
21	chr1:220960400-220961600	Flanking Active TSS	Colonic Mucosa	Colon
22	chr1:220960400-220961800	Flanking Active TSS	Liver	Liver
23	chr1:220960600-220962600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:220960600-220964800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr1:220960800-220961600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr1:220960800-220964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:220960800-220964400	Weak transcription	Lung	lung
28	chr1:220960800-220965200	Weak transcription	Small Intestine	intestine
29	chr1:220961000-220961400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:220961000-220961400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:220961000-220961400	Enhancers	Esophagus	oesophagus
32	chr1:220961000-220961400	Enhancers	Fetal Heart	heart
33	chr1:220961000-220961400	Enhancers	Fetal Muscle Leg	muscle
34	chr1:220961000-220961400	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:220961000-220961600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:220961000-220961800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:220961000-220961800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:220961000-220961800	Enhancers	Fetal Muscle Trunk	muscle
39	chr1:220961000-220961800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:220961000-220961800	Enhancers	Stomach Mucosa	stomach
41	chr1:220961000-220961800	Enhancers	A549	lung
42	chr1:220961000-220961800	Enhancers	NH-A	brain
43	chr1:220961000-220962000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:220961000-220962400	Weak transcription	Aorta	Aorta
45	chr1:220961000-220962400	Enhancers	Fetal Lung	lung
46	chr1:220961000-220964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:220961000-220964200	Weak transcription	Gastric	stomach
48	chr1:220961000-220964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:220961000-220964600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:220961000-220964600	Weak transcription	Psoas Muscle	Psoas

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