Variant report

Variant	rs951948
Chromosome Location	chr5:90369887-90369888
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90303269..90305084-chr5:90367689..90369952,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10038122	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10055587	0.85[ASN][1000 genomes]
rs10058319	0.84[ASN][1000 genomes]
rs10454910	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10514343	0.81[YRI][hapmap]
rs11952993	0.84[YRI][hapmap]
rs11955946	1.00[YRI][hapmap]
rs12153127	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12188068	0.95[YRI][hapmap]
rs12652491	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12657388	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12658697	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];0.98[ASN][1000 genomes]
rs13152882	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572843	0.94[YRI][hapmap]
rs1848481	0.85[ASN][1000 genomes]
rs1848483	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1848484	0.86[ASN][1000 genomes]
rs1848485	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1976565	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2367185	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2697547	0.87[ASN][1000 genomes]
rs4386756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4391205	0.85[ASN][1000 genomes]
rs4916838	0.84[ASN][1000 genomes]
rs4916839	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4916840	0.86[ASN][1000 genomes]
rs6452928	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6861614	0.95[YRI][hapmap]
rs6889138	0.84[YRI][hapmap]

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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90341200-90376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:90358400-90391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:90358600-90375400	Weak transcription	Brain Anterior Caudate	brain
4	chr5:90360200-90386400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:90366600-90386600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:90367000-90378000	Weak transcription	Fetal Brain Female	brain
7	chr5:90367200-90377600	Weak transcription	K562	blood
8	chr5:90368200-90370200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:90368200-90370600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:90368200-90371000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:90368200-90372600	Enhancers	Osteobl	bone
12	chr5:90368400-90371000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:90368400-90372200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:90368400-90372400	Enhancers	NHDF-Ad	bronchial
15	chr5:90368400-90372600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:90368400-90374400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:90368600-90370600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:90368800-90370600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:90369000-90373000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:90369000-90374400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:90369200-90370400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:90369400-90370800	Weak transcription	A549	lung
23	chr5:90369400-90373000	Weak transcription	NHEK	skin
24	chr5:90369400-90374400	Weak transcription	Aorta	Aorta
25	chr5:90369400-90374400	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:90369400-90374400	Weak transcription	Fetal Kidney	kidney
27	chr5:90369400-90374600	Weak transcription	Hela-S3	cervix
28	chr5:90369400-90386200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:90369600-90370200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:90369600-90370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:90369600-90371200	Weak transcription	NH-A	brain
32	chr5:90369600-90373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:90369600-90373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:90369600-90373400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:90369600-90386000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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