Variant report

Variant	rs72470578
Chromosome Location	chr1:220962473-220962474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr1:220959780-220962626	Hela-S3	cervix:	n/a	n/a
2	USF2	chr1:220962297-220962600	Hela-S3	cervix:	n/a	n/a
3	MAX	chr1:220962262-220962656	Hela-S3	cervix:	n/a	n/a
4	MAX	chr1:220962299-220962551	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
2	chr1:220956374..220960540-chr1:220960774..220963878,4	K562	blood:
3	chr1:220956861..220959223-chr1:220961892..220963473,2	MCF-7	breast:
4	chr1:220942073..220944340-chr1:220961734..220963396,2	K562	blood:

No data

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	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12028745	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3738177	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3820356	0.88[AMR][1000 genomes]
rs57298117	0.88[AMR][1000 genomes]
rs58327003	0.94[AMR][1000 genomes]
rs58438675	0.94[AMR][1000 genomes]
rs59234976	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs6541159	0.94[AMR][1000 genomes]
rs6682431	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs6701709	0.94[AMR][1000 genomes]
rs72470566	0.86[AMR][1000 genomes]
rs72470579	0.82[AFR][1000 genomes]
rs72470580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526347	0.88[AMR][1000 genomes]
rs7537305	0.94[AMR][1000 genomes]
rs868494	0.94[AMR][1000 genomes]
rs9970238	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220959200-220962600	Enhancers	Fetal Brain Male	brain
2	chr1:220960600-220962600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:220960600-220964800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:220960800-220964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:220960800-220964400	Weak transcription	Lung	lung
6	chr1:220960800-220965200	Weak transcription	Small Intestine	intestine
7	chr1:220961000-220964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:220961000-220964200	Weak transcription	Gastric	stomach
9	chr1:220961000-220964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:220961000-220964600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:220961000-220964600	Weak transcription	Psoas Muscle	Psoas
12	chr1:220961000-220964600	Weak transcription	HMEC	breast
13	chr1:220961000-220964800	Weak transcription	Right Ventricle	heart
14	chr1:220961000-220964800	Weak transcription	HUVEC	blood vessel
15	chr1:220961000-220970200	Weak transcription	Fetal Kidney	kidney
16	chr1:220961000-220971200	Weak transcription	Spleen	Spleen
17	chr1:220961000-220973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:220961000-220976800	Weak transcription	Ovary	ovary
19	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:220961200-220963200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:220961200-220963600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:220961200-220964000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:220961200-220964200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:220961200-220964600	Weak transcription	Left Ventricle	heart
26	chr1:220961200-220964800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:220961200-220965000	Weak transcription	Brain Anterior Caudate	brain
28	chr1:220961200-220971200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:220961400-220963800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:220961400-220970600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
32	chr1:220961600-220962600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:220961600-220962600	Enhancers	Colonic Mucosa	Colon
34	chr1:220961600-220962600	Enhancers	Fetal Heart	heart
35	chr1:220961600-220962800	Enhancers	Placenta	Placenta
36	chr1:220961600-220965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:220961600-220965000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:220961600-220965800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:220961600-220966600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:220961600-220969400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:220961600-220970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:220961600-220970600	Weak transcription	Fetal Brain Female	brain
43	chr1:220961600-220971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
45	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
47	chr1:220961800-220963200	Weak transcription	Fetal Intestine Large	intestine
48	chr1:220961800-220963800	Weak transcription	Fetal Intestine Small	intestine
49	chr1:220961800-220963800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:220961800-220964200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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