Variant report

Variant	rs10500615
Chromosome Location	chr11:4718860-4718861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1032448	0.92[JPT][hapmap]
rs10500614	0.84[GIH][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs10734440	0.89[CHD][hapmap]
rs10836495	0.85[CEU][hapmap]
rs10836500	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11033366	0.83[EUR][1000 genomes]
rs11033409	0.84[JPT][hapmap]
rs12222503	0.84[JPT][hapmap]
rs12277885	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12418506	0.91[EUR][1000 genomes]
rs12577711	0.87[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1493745	0.87[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1505193	0.83[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs16931246	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs16932124	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs16932578	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs16933260	0.87[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs16933304	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs16933308	0.90[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs16933600	0.96[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs1845362	0.87[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs4284391	0.83[EUR][1000 genomes]
rs4331086	0.85[CEU][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4382899	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4432013	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4463838	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4465362	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4471413	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4619142	0.81[ASN][1000 genomes]
rs57437632	0.81[ASN][1000 genomes]
rs61681282	0.81[ASN][1000 genomes]
rs7105156	0.81[YRI][hapmap]
rs7478759	0.87[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv896915	chr11:4659419-4844393	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv832056	chr11:4673001-4824890	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1046486	chr11:4697151-4741730	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
12	nsv896916	chr11:4712353-4806872	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10500615	TNNI2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4716200-4719000	Active TSS	Colon Smooth Muscle	Colon
2	chr11:4718800-4719000	Enhancers	Ovary	ovary
3	chr11:4718800-4719000	Active TSS	Rectal Smooth Muscle	rectum
4	chr11:4718800-4719600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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