Variant report

Variant	rs10245594
Chromosome Location	chr7:64310110-64310111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11768507	0.85[ASN][1000 genomes]
rs13222235	0.89[ASN][1000 genomes]
rs13225722	0.85[ASN][1000 genomes]
rs13233451	0.89[ASN][1000 genomes]
rs17708491	0.85[ASN][1000 genomes]
rs34195103	0.86[ASN][1000 genomes]
rs34725314	0.94[ASN][1000 genomes]
rs35802638	0.94[ASN][1000 genomes]
rs35916947	0.85[ASN][1000 genomes]
rs4718145	0.92[ASN][1000 genomes]
rs4718166	0.83[ASN][1000 genomes]
rs4718167	0.83[ASN][1000 genomes]
rs62455064	0.85[ASN][1000 genomes]
rs62458431	0.94[ASN][1000 genomes]
rs9638208	0.83[ASN][1000 genomes]
rs9638403	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1797468	chr7:64296309-64356050	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64309400-64310600	Flanking Active TSS	K562	blood
2	chr7:64309400-64310800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:64309600-64310200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:64309600-64310200	Enhancers	HMEC	breast
5	chr7:64309600-64310400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:64309600-64310400	Enhancers	Left Ventricle	heart
7	chr7:64309600-64310400	Enhancers	Right Ventricle	heart
8	chr7:64309600-64310600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:64309600-64310600	Enhancers	Psoas Muscle	Psoas
10	chr7:64309600-64310800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:64309600-64310800	Enhancers	Esophagus	oesophagus
12	chr7:64309800-64310400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:64309800-64310600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:64310000-64310200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:64310000-64310200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:64310000-64310200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr7:64310000-64310200	Enhancers	HepG2	liver
18	chr7:64310000-64310200	Enhancers	NHEK	skin
19	chr7:64310000-64310400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:64310000-64310400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr7:64310000-64310400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:64310000-64310400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr7:64310000-64310400	Active TSS	Brain Anterior Caudate	brain
24	chr7:64310000-64310400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:64310000-64310400	Enhancers	Right Atrium	heart
26	chr7:64310000-64310400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr7:64310000-64310400	Enhancers	HSMM	muscle
28	chr7:64310000-64310400	Enhancers	NHDF-Ad	bronchial
29	chr7:64310000-64310600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:64310000-64310600	Flanking Active TSS	Osteobl	bone
31	chr7:64310000-64310800	Enhancers	Brain Substantia Nigra	brain

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