Variant report

Variant	rs17135583
Chromosome Location	chr7:101162131-101162132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10953346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs10953347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[ASN][1000 genomes]
rs10953348	0.88[CHB][hapmap]
rs11763096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs11766108	0.95[ASN][1000 genomes]
rs11766133	0.95[ASN][1000 genomes]
rs11766744	0.81[GIH][hapmap]
rs11770737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12532583	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12536189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs13227904	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13236265	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13236381	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13236602	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17135574	0.95[ASN][1000 genomes]
rs17135580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17385787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1859632	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859634	0.88[CHB][hapmap]
rs2158739	0.88[CHB][hapmap]
rs34128712	0.90[ASN][1000 genomes]
rs34273130	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35068867	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35101166	0.95[ASN][1000 genomes]
rs35117628	0.95[ASN][1000 genomes]
rs35628669	0.95[ASN][1000 genomes]
rs35768570	0.92[ASN][1000 genomes]
rs35815823	0.95[ASN][1000 genomes]
rs35838451	0.93[ASN][1000 genomes]
rs4418274	0.95[ASN][1000 genomes]
rs55641664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55661906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192918	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56362396	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384319	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58048826	0.95[ASN][1000 genomes]
rs6947735	0.88[CHB][hapmap]
rs6954650	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6954768	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs6979764	0.88[CHB][hapmap]
rs7806682	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9768585	0.95[ASN][1000 genomes]
rs9769150	0.90[ASN][1000 genomes]
rs9769486	0.95[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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv464660	chr7:100968363-101171028	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv607981	chr7:100968363-101171028	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1021187	chr7:100993420-101178831	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv888823	chr7:101109073-101174965	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1796652	chr7:101156017-101219459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17135583	MYL10	cis	parietal	SCAN
rs17135583	ARMC10	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101126800-101165000	Weak transcription	Right Atrium	heart
2	chr7:101151000-101181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:101156600-101171000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:101159400-101170600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:101159600-101188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:101160200-101163800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:101160200-101178600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:101160400-101162600	Enhancers	Adipose Nuclei	Adipose
9	chr7:101160400-101178600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:101160400-101186000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:101160600-101162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:101160600-101162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:101160600-101190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:101161000-101163400	Enhancers	Fetal Muscle Leg	muscle
15	chr7:101161200-101162800	Enhancers	Fetal Lung	lung
16	chr7:101161200-101163400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:101161200-101163400	Enhancers	Fetal Muscle Trunk	muscle
18	chr7:101161400-101162400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:101161400-101162800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:101161400-101163000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:101161400-101163200	Enhancers	HSMMtube	muscle
22	chr7:101161400-101163400	Enhancers	Fetal Kidney	kidney
23	chr7:101161400-101163600	Enhancers	Fetal Stomach	stomach
24	chr7:101161400-101163600	Enhancers	NHLF	lung
25	chr7:101161600-101162200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:101161600-101162400	Bivalent Enhancer	HSMM	muscle
27	chr7:101161600-101162600	Enhancers	Osteobl	bone
28	chr7:101161600-101163000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:101161600-101163600	Enhancers	NHDF-Ad	bronchial
30	chr7:101161800-101162800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:101161800-101186000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:101162000-101162200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr7:101162000-101162400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:101162000-101162600	Weak transcription	Spleen	Spleen

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