Variant report

Variant	rs2246796
Chromosome Location	chr10:50256234-50256235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50255638..50257367-chr10:50260546..50263382,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10218854	0.82[CHB][hapmap]
rs11100995	0.86[ASN][1000 genomes]
rs11101001	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs11592975	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11594275	0.90[ASN][1000 genomes]
rs11594452	0.86[ASN][1000 genomes]
rs11597983	0.86[ASN][1000 genomes]
rs11598768	0.90[ASN][1000 genomes]
rs12243520	0.90[ASN][1000 genomes]
rs12569955	1.00[GIH][hapmap]
rs17782866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1806681	1.00[JPT][hapmap]
rs2246937	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs2377981	0.86[ASN][1000 genomes]
rs2377982	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2377983	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2377984	0.86[ASN][1000 genomes]
rs3750744	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3924983	1.00[TSI][hapmap]
rs3924984	0.82[YRI][hapmap]
rs4073200	0.86[ASN][1000 genomes]
rs4073201	0.90[ASN][1000 genomes]
rs4073202	0.86[ASN][1000 genomes]
rs41306832	0.86[ASN][1000 genomes]
rs4272720	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4284329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4468264	0.89[YRI][hapmap]
rs4497319	0.89[YRI][hapmap]
rs4550151	0.89[YRI][hapmap]
rs4838364	0.82[CHB][hapmap]
rs4838445	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs4838455	0.86[ASN][1000 genomes]
rs4838458	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs55687538	0.90[ASN][1000 genomes]
rs55783415	0.83[ASN][1000 genomes]
rs55890352	0.90[ASN][1000 genomes]
rs56364323	0.90[ASN][1000 genomes]
rs56737365	0.93[ASN][1000 genomes]
rs57286767	0.90[ASN][1000 genomes]
rs59728475	0.90[ASN][1000 genomes]
rs61060205	0.90[ASN][1000 genomes]
rs61850678	0.86[ASN][1000 genomes]
rs6537495	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs7080670	0.82[CHB][hapmap]
rs7081097	0.90[ASN][1000 genomes]
rs7084112	0.82[YRI][hapmap]
rs7088006	0.86[ASN][1000 genomes]
rs7094220	0.82[CHB][hapmap]
rs7094501	0.86[ASN][1000 genomes]
rs7096516	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs7097375	0.90[ASN][1000 genomes]
rs73302715	0.93[ASN][1000 genomes]
rs73302716	0.93[ASN][1000 genomes]
rs73302780	0.86[ASN][1000 genomes]
rs73302786	0.90[ASN][1000 genomes]
rs7895212	0.83[ASN][1000 genomes]
rs7904272	0.92[YRI][hapmap]
rs7924204	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[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	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:50224400-50258200	Weak transcription	Brain Anterior Caudate	brain
3	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr10:50233800-50261400	Weak transcription	Spleen	Spleen
7	chr10:50241600-50263200	Weak transcription	NHLF	lung
8	chr10:50242400-50258000	Weak transcription	Fetal Kidney	kidney
9	chr10:50242400-50259200	Weak transcription	Brain Substantia Nigra	brain
10	chr10:50243400-50261200	Weak transcription	Lung	lung
11	chr10:50243800-50278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr10:50245400-50258200	Weak transcription	Osteobl	bone
13	chr10:50245600-50264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:50245800-50257800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:50247000-50259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:50247000-50282600	Weak transcription	Brain Angular Gyrus	brain
17	chr10:50247800-50271600	Weak transcription	Fetal Intestine Small	intestine
18	chr10:50249200-50258000	Weak transcription	Liver	Liver
19	chr10:50251200-50257800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:50252200-50261200	Weak transcription	Psoas Muscle	Psoas
21	chr10:50252400-50257000	Weak transcription	Aorta	Aorta
22	chr10:50253400-50257000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr10:50253600-50256400	Strong transcription	Fetal Muscle Leg	muscle
24	chr10:50253600-50257000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr10:50253800-50256800	Strong transcription	Fetal Lung	lung
26	chr10:50254400-50278800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:50255000-50256600	Strong transcription	Fetal Stomach	stomach
28	chr10:50255200-50257200	Strong transcription	HSMMtube	muscle
29	chr10:50255400-50256800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:50255400-50257000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:50255400-50261200	Weak transcription	Left Ventricle	heart
32	chr10:50255600-50257400	Weak transcription	Adipose Nuclei	Adipose
33	chr10:50255600-50259000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:50255800-50256800	Strong transcription	Ovary	ovary
35	chr10:50255800-50257200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:50255800-50258000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:50255800-50258800	Weak transcription	NHDF-Ad	bronchial
38	chr10:50255800-50261200	Weak transcription	Right Ventricle	heart
39	chr10:50255800-50270200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr10:50256200-50257000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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