Variant report

Variant	rs2264847
Chromosome Location	chr10:50254266-50254267
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	chr10:50245121..50246048-chr10:50254143..50254725,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs12244666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12244748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12253426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12255090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12256777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12257242	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12261297	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12269023	0.94[CHB][hapmap]
rs12765281	0.92[CEU][hapmap]
rs12769361	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12774293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12776460	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17011744	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17011746	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17011757	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17700872	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17773851	0.91[CEU][hapmap]
rs2003044	0.91[CEU][hapmap]
rs2137911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2137912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2137914	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs2246463	0.80[CEU][hapmap];0.94[CHB][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2246673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246937	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs2264846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725179	0.92[CEU][hapmap]
rs2725181	0.91[CEU][hapmap]
rs2804937	0.92[CEU][hapmap]
rs34289781	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34364659	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34574986	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34640094	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34878380	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35341824	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35462783	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35905744	0.87[EUR][1000 genomes]
rs35922675	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3924984	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs3924985	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs4128908	0.83[CEU][hapmap];0.88[CHB][hapmap]
rs4240498	0.94[CHB][hapmap]
rs4400713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4402204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4403731	0.89[CHB][hapmap]
rs4421674	0.94[CHB][hapmap]
rs4445564	0.95[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4468264	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs4481947	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4497319	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs4508127	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4550151	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs4600129	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56291725	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58154726	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6537493	0.84[CEU][hapmap];0.89[CHB][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6537494	0.94[CHB][hapmap]
rs68065270	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7070387	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7073208	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7074818	0.94[CHB][hapmap]
rs7084112	1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs7085823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7088718	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7097933	0.94[CHB][hapmap]
rs7098134	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs7100655	0.91[CEU][hapmap]
rs72785015	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7896344	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7897289	0.81[CEU][hapmap];0.89[CHB][hapmap];0.87[AFR][1000 genomes]
rs7904272	1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs7906722	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[AFR][1000 genomes]
rs7907959	0.92[ASN][1000 genomes]
rs7916825	0.81[CEU][hapmap];0.89[CHB][hapmap];0.83[AFR][1000 genomes]
rs9804403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:38 , 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	chr10:50232800-50255400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:50233800-50261400	Weak transcription	Spleen	Spleen
8	chr10:50241600-50263200	Weak transcription	NHLF	lung
9	chr10:50242400-50258000	Weak transcription	Fetal Kidney	kidney
10	chr10:50242400-50259200	Weak transcription	Brain Substantia Nigra	brain
11	chr10:50243400-50261200	Weak transcription	Lung	lung
12	chr10:50243800-50278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:50245400-50258200	Weak transcription	Osteobl	bone
14	chr10:50245600-50264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:50245800-50257800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:50247000-50259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:50247000-50282600	Weak transcription	Brain Angular Gyrus	brain
18	chr10:50247800-50255000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:50247800-50271600	Weak transcription	Fetal Intestine Small	intestine
20	chr10:50248000-50255000	Weak transcription	Right Ventricle	heart
21	chr10:50249200-50258000	Weak transcription	Liver	Liver
22	chr10:50250400-50255000	Weak transcription	Fetal Stomach	stomach
23	chr10:50250600-50255000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:50251000-50255200	Weak transcription	HSMMtube	muscle
25	chr10:50251200-50257800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:50251600-50255800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:50252200-50261200	Weak transcription	Psoas Muscle	Psoas
28	chr10:50252400-50257000	Weak transcription	Aorta	Aorta
29	chr10:50253400-50257000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr10:50253600-50255800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:50253600-50256400	Strong transcription	Fetal Muscle Leg	muscle
32	chr10:50253600-50257000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr10:50253800-50255600	Strong transcription	Adipose Nuclei	Adipose
34	chr10:50253800-50256800	Strong transcription	Fetal Lung	lung
35	chr10:50254200-50254400	Strong transcription	Ovary	ovary
36	chr10:50254200-50255000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:50254200-50255400	Strong transcription	Left Ventricle	heart
38	chr10:50254200-50255800	Strong transcription	NHDF-Ad	bronchial

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