Variant report

Variant	rs11810052
Chromosome Location	chr1:197668492-197668493
allele	C/T
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]
rs1024920	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1035320	1.00[ASN][1000 genomes]
rs10494759	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10754226	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10801610	1.00[ASN][1000 genomes]
rs10801611	1.00[ASN][1000 genomes]
rs10801615	1.00[ASN][1000 genomes]
rs10801618	1.00[ASN][1000 genomes]
rs10922312	1.00[ASN][1000 genomes]
rs10922325	1.00[JPT][hapmap]
rs11799366	0.83[AFR][1000 genomes]
rs11801596	1.00[ASN][1000 genomes]
rs11803693	1.00[ASN][1000 genomes]
rs11803984	1.00[ASN][1000 genomes]
rs11804036	1.00[ASN][1000 genomes]
rs11804076	1.00[ASN][1000 genomes]
rs11805085	1.00[ASN][1000 genomes]
rs11805260	1.00[ASN][1000 genomes]
rs11806071	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11806117	0.82[YRI][hapmap]
rs11806604	1.00[ASN][1000 genomes]
rs11807556	0.83[AFR][1000 genomes]
rs11808449	1.00[ASN][1000 genomes]
rs11809987	0.83[AFR][1000 genomes]
rs12062450	1.00[ASN][1000 genomes]
rs12079525	1.00[ASN][1000 genomes]
rs1362940	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1421388	1.00[ASN][1000 genomes]
rs1421398	1.00[ASN][1000 genomes]
rs16841843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16841850	0.83[AFR][1000 genomes]
rs16841889	0.90[YRI][hapmap]
rs16841893	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16841969	1.00[ASN][1000 genomes]
rs16841983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1862011	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2047541	1.00[ASN][1000 genomes]
rs2147771	1.00[ASN][1000 genomes]
rs301505	1.00[ASN][1000 genomes]
rs35432263	1.00[ASN][1000 genomes]
rs3902061	1.00[ASN][1000 genomes]
rs41418447	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4427436	1.00[ASN][1000 genomes]
rs4915243	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4915244	1.00[ASN][1000 genomes]
rs4915548	1.00[ASN][1000 genomes]
rs6428408	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6428409	1.00[ASN][1000 genomes]
rs6662893	1.00[ASN][1000 genomes]
rs6678240	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7543631	1.00[ASN][1000 genomes]

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	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv548873	chr1:197664905-197694037	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197657000-197677000	Weak transcription	Ovary	ovary
2	chr1:197659400-197674800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:197659800-197674400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:197665800-197675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:197665800-197693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:197666200-197671400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:197666800-197675800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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