Variant report

Variant	rs10863951
Chromosome Location	chr1:212352935-212352936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212351236..212353936-chr1:212380714..212382425,3	K562	blood:
2	chr1:212347420..212350421-chr1:212350572..212353527,5	K562	blood:
3	chr1:212350500..212353669-chr1:212356287..212359186,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10863948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119870	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119871	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119872	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119877	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119878	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12085064	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12086905	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66832725	0.90[AFR][1000 genomes]
rs6691330	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703980	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212336800-212359600	Weak transcription	Dnd41	blood
2	chr1:212350600-212359600	Weak transcription	K562	blood
3	chr1:212351600-212353000	Enhancers	Psoas Muscle	Psoas
4	chr1:212351600-212353200	Enhancers	Placenta	Placenta
5	chr1:212351600-212353200	Enhancers	Left Ventricle	heart
6	chr1:212351600-212354200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:212352000-212353000	Enhancers	Fetal Thymus	thymus
8	chr1:212352000-212353000	Enhancers	Right Atrium	heart
9	chr1:212352000-212353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:212352000-212354200	Enhancers	HMEC	breast
11	chr1:212352000-212354400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:212352200-212353000	Enhancers	Right Ventricle	heart
13	chr1:212352200-212353800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:212352200-212353800	Enhancers	NHLF	lung
15	chr1:212352200-212354000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:212352400-212353000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:212352400-212353200	Enhancers	Lung	lung
18	chr1:212352400-212353200	Enhancers	HSMMtube	muscle
19	chr1:212352400-212353800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:212352400-212354200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:212352400-212354200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:212352600-212353000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:212352600-212353000	Flanking Active TSS	NHDF-Ad	bronchial
24	chr1:212352600-212353000	Flanking Active TSS	NHEK	skin
25	chr1:212352600-212353200	Enhancers	NH-A	brain
26	chr1:212352600-212353600	Enhancers	HSMM	muscle
27	chr1:212352600-212353800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:212352600-212353800	Enhancers	Osteobl	bone
29	chr1:212352600-212354000	Enhancers	Esophagus	oesophagus
30	chr1:212352600-212355800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:212352600-212357200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:212352600-212357200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:212352800-212353000	Enhancers	Spleen	Spleen
34	chr1:212352800-212353200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:212352800-212353400	Enhancers	Hela-S3	cervix
36	chr1:212352800-212353600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:212352800-212356000	Weak transcription	Adipose Nuclei	Adipose

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