Variant report

Variant	rs62323640
Chromosome Location	chr4:99522762-99522763
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	chr4:99520635..99523456-chr4:99526451..99529728,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10033777	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11938326	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11938479	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17027806	0.92[EUR][1000 genomes]
rs4699355	0.95[EUR][1000 genomes]
rs4699657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699658	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323635	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62323638	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62323639	0.95[EUR][1000 genomes]
rs7670467	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7670572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs950152	0.92[EUR][1000 genomes]
rs9997798	0.87[EUR][1000 genomes]
rs9997807	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99508800-99523400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:99511200-99523400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:99521000-99524800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:99521000-99524800	Weak transcription	HSMM	muscle
5	chr4:99521200-99522800	Weak transcription	NH-A	brain
6	chr4:99521400-99524600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:99521400-99525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:99522000-99523200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:99522000-99525200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:99522200-99532200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:99522400-99523800	Weak transcription	Fetal Brain Male	brain
12	chr4:99522400-99524000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:99522400-99526600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:99522400-99528800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr4:99522600-99523000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:99522600-99523400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:99522600-99523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:99522600-99523600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:99522600-99523600	Weak transcription	Fetal Brain Female	brain
20	chr4:99522600-99524800	Enhancers	GM12878-XiMat	blood
21	chr4:99522600-99525000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:99522600-99525800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:99522600-99526000	Enhancers	Primary T helper cells fromperipheralblood	blood

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