Variant report

Variant	rs57298117
Chromosome Location	chr1:220956824-220956825
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	GATA3	chr1:220956629-220957236	SH-SY5Y	brain:	n/a	chr1:220956999-220957009
2	MXI1	chr1:220956613-220958635	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr1:220956740-220957260	SH-SY5Y	brain:	n/a	chr1:220956999-220957009

No.	Distal block	Cell Line	Cell type
1	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
2	chr1:220955910..220958578-chr1:220974519..220976128,2	MCF-7	breast:
3	chr1:220955139..220958269-chr1:220958999..220960888,3	MCF-7	breast:
4	chr1:220954637..220956826-chr1:220957908..220960668,2	K562	blood:
5	chr1:220956489..220958910-chr1:220959164..220961402,2	MCF-7	breast:
6	chr1:220949362..220952118-chr1:220955104..220958049,2	K562	blood:
7	chr1:220947345..220950182-chr1:220956454..220959292,3	MCF-7	breast:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11118601	0.86[AMR][1000 genomes]
rs1690716	0.82[ASN][1000 genomes]
rs3820354	0.92[ASN][1000 genomes]
rs3820356	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58327003	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58438675	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59234976	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6541159	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6682431	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6683301	0.90[ASN][1000 genomes]
rs6701709	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470566	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72470578	0.88[AMR][1000 genomes]
rs72470579	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72470580	0.88[AMR][1000 genomes]
rs72470582	0.88[AMR][1000 genomes]
rs7526347	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7537305	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868494	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9970238	0.84[AMR][1000 genomes]

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
4	chr1:220930000-220959600	Weak transcription	Psoas Muscle	Psoas
5	chr1:220930400-220959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:220931200-220959000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:220936200-220959600	Weak transcription	A549	lung
8	chr1:220936600-220958200	Weak transcription	Esophagus	oesophagus
9	chr1:220939000-220960400	Weak transcription	Small Intestine	intestine
10	chr1:220943000-220958400	Weak transcription	HepG2	liver
11	chr1:220943000-220959000	Strong transcription	Fetal Intestine Large	intestine
12	chr1:220944200-220959200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:220944200-220959400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:220944200-220959400	Weak transcription	Fetal Kidney	kidney
15	chr1:220944200-220959600	Weak transcription	NHLF	lung
16	chr1:220944200-220959800	Weak transcription	Gastric	stomach
17	chr1:220944400-220958800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:220944400-220959000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:220944400-220959200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:220944400-220959400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:220944400-220959400	Weak transcription	Colonic Mucosa	Colon
22	chr1:220944400-220959400	Weak transcription	Right Ventricle	heart
23	chr1:220945800-220959200	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:220946600-220958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:220946800-220958800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:220950200-220957800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:220950200-220959200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:220950400-220958000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:220950400-220959400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:220950600-220958000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:220950600-220958800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:220950600-220959000	Weak transcription	Fetal Heart	heart
33	chr1:220950600-220959400	Weak transcription	Right Atrium	heart
34	chr1:220952000-220957800	Strong transcription	Fetal Lung	lung
35	chr1:220952400-220958800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:220953200-220957400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:220953200-220959600	Weak transcription	Lung	lung
38	chr1:220953400-220957800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:220953800-220957400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:220953800-220959200	Weak transcription	Ovary	ovary
41	chr1:220954000-220958200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:220954000-220958200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:220954600-220957800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:220954600-220958000	Genic enhancers	Liver	Liver
45	chr1:220954800-220958600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:220955000-220958400	Strong transcription	Left Ventricle	heart
47	chr1:220955200-220958600	Strong transcription	Fetal Muscle Leg	muscle
48	chr1:220955200-220958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:220956000-220957000	Strong transcription	Aorta	Aorta
50	chr1:220956000-220957000	Strong transcription	Pancreas	Pancrea

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