Variant report

Variant	rs2246953
Chromosome Location	chr7:37987762-37987763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:37986861..37989135-chr7:38028141..38031087,2	K562	blood:

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

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

rs_ID	r²[population]
rs12701600	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1376260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1376261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1450849	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1450850	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1616485	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1619560	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1621407	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1668348	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1668353	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1668354	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1668357	0.91[EUR][1000 genomes]
rs1668361	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1668362	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1668363	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1717732	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1717737	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1717741	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1717742	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1717744	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1823522	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1901197	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1993055	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2167267	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2598086	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2598090	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2598093	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2722274	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2722278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2722279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2722283	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2722287	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2722288	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4723719	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs976798	0.93[EUR][1000 genomes];0.86[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	nsv8074	chr7:37865340-38210087	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:37963000-37988800	Weak transcription	Thymus	Thymus
2	chr7:37964200-37992600	Weak transcription	Hela-S3	cervix
3	chr7:37965200-37988400	Weak transcription	Dnd41	blood
4	chr7:37978400-37994200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:37979600-37991000	Weak transcription	Fetal Lung	lung
6	chr7:37982800-37988400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:37982800-37988400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:37982800-37990000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:37982800-37992400	Weak transcription	Spleen	Spleen
10	chr7:37983000-37988600	Weak transcription	Liver	Liver
11	chr7:37984000-37993200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:37984200-37993600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:37984400-37995000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:37984600-37988400	Weak transcription	HSMM	muscle
15	chr7:37984600-37988800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:37984600-37992000	Weak transcription	Brain Substantia Nigra	brain
17	chr7:37984600-37992000	Weak transcription	Pancreas	Pancrea
18	chr7:37984800-37989800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:37984800-37993600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:37985000-37988400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:37985000-37990000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:37985200-37988600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:37985200-37988600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:37985400-37989000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:37986000-37993600	Weak transcription	Fetal Brain Female	brain
26	chr7:37986200-37989200	Weak transcription	Primary T cells from cord blood	blood
27	chr7:37986600-37987800	Enhancers	Fetal Muscle Leg	muscle
28	chr7:37986600-37987800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:37986600-37988200	Enhancers	Fetal Heart	heart
30	chr7:37986600-37990400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:37986800-37987800	Enhancers	Right Atrium	heart
32	chr7:37986800-37987800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:37986800-37993000	Strong transcription	Aorta	Aorta
34	chr7:37987000-37988000	Enhancers	Right Ventricle	heart
35	chr7:37987200-37987800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:37987200-37987800	Enhancers	Left Ventricle	heart
37	chr7:37987200-37987800	Enhancers	HSMMtube	muscle
38	chr7:37987400-37987800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:37987400-37987800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:37987400-37987800	Enhancers	Fetal Muscle Trunk	muscle
41	chr7:37987400-37987800	Enhancers	Lung	lung
42	chr7:37987400-37987800	Genic enhancers	A549	lung
43	chr7:37987400-37988000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:37987400-37988000	Genic enhancers	HepG2	liver
45	chr7:37987400-37992800	Weak transcription	Fetal Brain Male	brain
46	chr7:37987400-37994200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:37987400-37997200	Weak transcription	Psoas Muscle	Psoas
48	chr7:37987600-37987800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:37987600-37989800	Weak transcription	Ovary	ovary

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