Variant report

Variant	rs11990555
Chromosome Location	chr8:10050974-10050975
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10087802	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10088890	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10090114	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10098342	0.90[JPT][hapmap]
rs10100022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10216752	0.90[JPT][hapmap]
rs1023961	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11984513	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs13249486	0.89[JPT][hapmap]
rs13282106	0.89[JPT][hapmap]
rs1484639	0.89[JPT][hapmap]
rs1484640	0.88[JPT][hapmap]
rs1484642	0.89[JPT][hapmap]
rs1531918	0.89[JPT][hapmap]
rs1531919	0.89[JPT][hapmap]
rs17151071	0.90[JPT][hapmap]
rs17151244	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17689674	0.89[JPT][hapmap]
rs17738724	1.00[CHB][hapmap]
rs17739113	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs17739179	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2046399	0.89[JPT][hapmap]
rs2046400	0.89[JPT][hapmap]
rs2062333	0.88[JPT][hapmap]
rs2220149	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2220150	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2628140	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs28411081	0.90[ASN][1000 genomes]
rs4841281	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4841284	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs58176018	0.85[ASN][1000 genomes]
rs58913892	0.90[ASN][1000 genomes]
rs59337645	0.95[ASN][1000 genomes]
rs60510197	0.95[ASN][1000 genomes]
rs7005350	0.89[JPT][hapmap]
rs728878	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs73191562	0.90[ASN][1000 genomes]
rs73664934	0.85[ASN][1000 genomes]
rs7812741	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7823314	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7823557	0.90[ASN][1000 genomes]
rs7823714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7827921	0.90[ASN][1000 genomes]
rs7832670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7833387	0.89[JPT][hapmap]
rs7833895	0.89[JPT][hapmap]
rs7843443	0.84[JPT][hapmap]
rs814405	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs923046	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9329213	0.90[JPT][hapmap]
rs9329216	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs963592	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv890344	chr8:9995515-10060638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10048200-10052200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:10049000-10051200	Enhancers	Fetal Brain Male	brain
3	chr8:10049400-10051000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:10049600-10051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:10050000-10051000	Enhancers	Fetal Brain Female	brain
6	chr8:10050000-10057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:10050000-10068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:10050200-10053600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:10050400-10054600	Weak transcription	HMEC	breast
10	chr8:10050400-10054600	Weak transcription	NHEK	skin
11	chr8:10050400-10055000	Weak transcription	HSMMtube	muscle
12	chr8:10050400-10058000	Weak transcription	Aorta	Aorta
13	chr8:10050600-10054800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:10050600-10055000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:10050800-10053800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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