Variant report

Variant	rs61830262
Chromosome Location	chr1:220949379-220949380
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	RAD21	chr1:220949375-220950844	SK-N-SH	brain:	n/a	chr1:220950224-220950243
2	CTCF	chr1:220949280-220949430	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220344081..220345717-chr1:220948447..220950256,2	MCF-7	breast:
2	chr1:220948312..220949387-chr1:220976677..220977584,4	MCF-7	breast:
3	chr1:220947345..220950182-chr1:220956454..220959292,3	MCF-7	breast:
4	chr1:220469571..220470221-chr1:220949339..220950314,2	K562	blood:
5	chr1:220949362..220952118-chr1:220955104..220958049,2	K562	blood:

Variant related genes	Relation type
MARC2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11589296	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12407624	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1494373	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17008587	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008613	0.83[AMR][1000 genomes]
rs2275575	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs337188	0.83[EUR][1000 genomes]
rs3753879	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41314538	0.81[AMR][1000 genomes];0.86[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	nsv523389	chr1:220926844-220956012	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 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	chr1:220925400-220950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:220930000-220950000	Weak transcription	Fetal Brain Male	brain
6	chr1:220930000-220950200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:220930000-220950400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:220930000-220959600	Weak transcription	Psoas Muscle	Psoas
9	chr1:220930200-220950000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:220930400-220950000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:220930400-220959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:220930600-220950000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:220931200-220959000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:220936200-220959600	Weak transcription	A549	lung
15	chr1:220936600-220958200	Weak transcription	Esophagus	oesophagus
16	chr1:220939000-220960400	Weak transcription	Small Intestine	intestine
17	chr1:220941200-220949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:220942400-220950200	Weak transcription	Right Atrium	heart
19	chr1:220942400-220950200	Weak transcription	Stomach Mucosa	stomach
20	chr1:220943000-220958400	Weak transcription	HepG2	liver
21	chr1:220943000-220959000	Strong transcription	Fetal Intestine Large	intestine
22	chr1:220944200-220950000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:220944200-220950000	Weak transcription	Hela-S3	cervix
24	chr1:220944200-220950200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:220944200-220956000	Weak transcription	Pancreas	Pancrea
26	chr1:220944200-220959200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:220944200-220959400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:220944200-220959400	Weak transcription	Fetal Kidney	kidney
29	chr1:220944200-220959600	Weak transcription	NHLF	lung
30	chr1:220944200-220959800	Weak transcription	Gastric	stomach
31	chr1:220944400-220950200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:220944400-220954600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:220944400-220956000	Weak transcription	Aorta	Aorta
34	chr1:220944400-220956800	Weak transcription	Spleen	Spleen
35	chr1:220944400-220958800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:220944400-220959000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:220944400-220959200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:220944400-220959400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:220944400-220959400	Weak transcription	Colonic Mucosa	Colon
40	chr1:220944400-220959400	Weak transcription	Right Ventricle	heart
41	chr1:220945000-220950400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:220945000-220951800	Weak transcription	Ovary	ovary
43	chr1:220945600-220953200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:220945800-220959200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:220946000-220956800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:220946200-220950400	Weak transcription	Fetal Lung	lung
47	chr1:220946200-220951600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:220946400-220953400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:220946400-220956200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:220946600-220950000	Weak transcription	Primary B cells from peripheral blood	blood

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