Variant report

Variant	rs10895740
Chromosome Location	chr11:104719593-104719594
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10895742	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10895744	0.87[CEU][hapmap]
rs11226520	0.88[EUR][1000 genomes]
rs11226540	0.82[AMR][1000 genomes]
rs11226546	0.94[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs11226547	0.94[CEU][hapmap];0.84[CHB][hapmap];0.87[GIH][hapmap];0.83[EUR][1000 genomes]
rs11226548	0.82[EUR][1000 genomes]
rs11226549	0.82[EUR][1000 genomes]
rs11226550	0.88[CEU][hapmap];0.84[CHB][hapmap];0.90[GIH][hapmap];0.82[EUR][1000 genomes]
rs11605849	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11825902	0.87[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes]
rs12418917	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12421345	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12422201	0.88[CEU][hapmap];0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs15684	0.82[EUR][1000 genomes]
rs17103153	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2005513	0.88[CEU][hapmap];0.84[CHB][hapmap];0.90[GIH][hapmap];0.82[EUR][1000 genomes]
rs478650	0.84[CHB][hapmap];0.90[GIH][hapmap]
rs491011	0.88[CEU][hapmap];0.84[CHB][hapmap];0.82[EUR][1000 genomes]
rs491945	0.88[CEU][hapmap];0.84[CHB][hapmap];0.90[GIH][hapmap];0.82[EUR][1000 genomes]
rs518553	0.82[EUR][1000 genomes]
rs524060	0.82[EUR][1000 genomes]
rs528641	0.94[CEU][hapmap];0.84[CHB][hapmap];0.90[GIH][hapmap];0.82[EUR][1000 genomes]
rs532705	0.88[CEU][hapmap];0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs532738	0.82[EUR][1000 genomes]
rs548968	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs549691	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs561999	0.88[EUR][1000 genomes]
rs573894	0.84[CHB][hapmap];0.87[GIH][hapmap]
rs579156	0.93[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs595395	0.87[CEU][hapmap];0.84[CHB][hapmap];0.90[GIH][hapmap];0.82[EUR][1000 genomes]
rs61892077	0.88[EUR][1000 genomes]
rs625046	0.82[EUR][1000 genomes]
rs626771	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs641046	0.93[CEU][hapmap];0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs650940	0.84[EUR][1000 genomes]
rs656251	0.88[CEU][hapmap];0.84[CHB][hapmap];0.90[GIH][hapmap];0.82[EUR][1000 genomes]
rs7106409	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv826072	chr11:104662708-104768357	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv33953	chr11:104709950-104737532	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2757474	chr11:104719593-104798545	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2759862	chr11:104719593-104798545	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10895740	CASP1	Cis_1M	lymphoblastoid	RTeQTL
rs10895740	CASP4	Cis_1M	lymphoblastoid	RTeQTL
rs10895740	CASP1///COP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104715600-104730000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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