Variant report

Variant	rs2246463
Chromosome Location	chr10:50258735-50258736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11100988	0.82[CEU][hapmap]
rs12240534	0.92[CEU][hapmap]
rs12244666	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs12244748	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs12253426	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs12255090	0.94[CHB][hapmap]
rs12256777	0.80[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap]
rs12257242	0.94[CHB][hapmap]
rs12261297	0.94[CHB][hapmap]
rs12269023	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12769361	0.94[CHB][hapmap]
rs12774293	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs12776460	0.94[CHB][hapmap];0.97[CHD][hapmap]
rs17011757	0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[LWK][hapmap]
rs17700872	0.94[CHB][hapmap]
rs2137911	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2137912	0.87[ASW][hapmap];0.80[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[LWK][hapmap];0.83[MEX][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2137914	0.94[CHB][hapmap]
rs2246673	0.80[CEU][hapmap];0.94[CHB][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2246937	0.94[CHB][hapmap]
rs2250146	0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2250257	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250349	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250602	0.83[ASN][1000 genomes]
rs2264846	0.94[CHB][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2264847	0.80[CEU][hapmap];0.94[CHB][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2264848	0.81[LWK][hapmap];0.82[MKK][hapmap]
rs2264849	0.81[LWK][hapmap];0.82[MKK][hapmap]
rs2804934	0.88[CEU][hapmap];0.91[TSI][hapmap]
rs2943253	0.83[CEU][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2943254	0.86[ASN][1000 genomes]
rs3924984	0.94[CHB][hapmap]
rs3924985	0.94[CHB][hapmap]
rs4128908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4129035	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4240498	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs4317903	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4317904	0.87[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs4400713	0.94[CHB][hapmap]
rs4402204	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs4403731	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4421674	1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[ASN][1000 genomes]
rs4468264	0.94[CHB][hapmap]
rs4481947	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4497319	0.94[CHB][hapmap];0.94[CHD][hapmap]
rs4508127	0.94[CHB][hapmap]
rs4550151	0.94[CHB][hapmap];0.94[CHD][hapmap]
rs4620641	0.81[TSI][hapmap]
rs4838447	0.82[CEU][hapmap]
rs6537493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537494	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs6537497	0.82[TSI][hapmap]
rs7074818	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs7084112	0.94[CHB][hapmap];0.91[CHD][hapmap]
rs7085823	0.80[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap]
rs7093398	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7097933	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7098134	0.94[CHB][hapmap]
rs7897289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7904272	0.93[CHB][hapmap]
rs7906722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7916825	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9804403	0.83[CEU][hapmap];0.94[CHB][hapmap]

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:50233800-50261400	Weak transcription	Spleen	Spleen
6	chr10:50241600-50263200	Weak transcription	NHLF	lung
7	chr10:50242400-50259200	Weak transcription	Brain Substantia Nigra	brain
8	chr10:50243400-50261200	Weak transcription	Lung	lung
9	chr10:50243800-50278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:50245600-50264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:50247000-50259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:50247000-50282600	Weak transcription	Brain Angular Gyrus	brain
13	chr10:50247800-50271600	Weak transcription	Fetal Intestine Small	intestine
14	chr10:50252200-50261200	Weak transcription	Psoas Muscle	Psoas
15	chr10:50254400-50278800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:50255400-50261200	Weak transcription	Left Ventricle	heart
17	chr10:50255600-50259000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:50255800-50258800	Weak transcription	NHDF-Ad	bronchial
19	chr10:50255800-50261200	Weak transcription	Right Ventricle	heart
20	chr10:50255800-50270200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr10:50257000-50260600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:50257200-50258800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:50257200-50259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:50257200-50259000	Weak transcription	Ovary	ovary
25	chr10:50257200-50260800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr10:50257200-50261600	Weak transcription	HSMMtube	muscle
27	chr10:50257200-50266800	Weak transcription	Aorta	Aorta
28	chr10:50257400-50259000	Enhancers	Adipose Nuclei	Adipose
29	chr10:50257400-50259800	Enhancers	Fetal Lung	lung
30	chr10:50257400-50261200	Enhancers	Fetal Stomach	stomach
31	chr10:50257600-50258800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr10:50257600-50259000	Weak transcription	Fetal Muscle Leg	muscle
33	chr10:50257600-50259400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr10:50257800-50259400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:50257800-50259400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:50258000-50258800	Enhancers	Liver	Liver
37	chr10:50258000-50259400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:50258200-50259000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr10:50258200-50259400	Enhancers	Osteobl	bone
40	chr10:50258200-50265800	Weak transcription	Fetal Kidney	kidney
41	chr10:50258400-50258800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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