Variant report

Variant	rs12534517
Chromosome Location	chr7:120730999-120731000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120588541..120592018-chr7:120729124..120732355,3	K562	blood:
2	chr7:120729541..120731923-chr7:120745410..120747271,2	K562	blood:
3	chr7:120588541..120591056-chr7:120730855..120732518,2	K562	blood:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10237944	1.00[AMR][1000 genomes]
rs12535821	1.00[AMR][1000 genomes]
rs13438018	1.00[AMR][1000 genomes]
rs57412322	1.00[AMR][1000 genomes]
rs6944198	1.00[AMR][1000 genomes]
rs6944409	1.00[AMR][1000 genomes]
rs6960006	1.00[AMR][1000 genomes]
rs6975632	1.00[AMR][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	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120724000-120731200	Genic enhancers	K562	blood
3	chr7:120724400-120739800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:120725400-120735000	Weak transcription	Right Ventricle	heart
5	chr7:120725400-120739600	Weak transcription	Left Ventricle	heart
6	chr7:120725600-120736800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:120725800-120744400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
9	chr7:120727000-120732000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:120727000-120734600	Weak transcription	Fetal Heart	heart
11	chr7:120727000-120737400	Weak transcription	Liver	Liver
12	chr7:120727200-120732000	Weak transcription	Ovary	ovary
13	chr7:120727200-120732000	Weak transcription	Psoas Muscle	Psoas
14	chr7:120727200-120735000	Weak transcription	Aorta	Aorta
15	chr7:120727200-120739800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:120727400-120732600	Weak transcription	HSMMtube	muscle
17	chr7:120727600-120739800	Weak transcription	Osteobl	bone
18	chr7:120727600-120740000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:120727800-120739800	Weak transcription	NHLF	lung
20	chr7:120727800-120756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:120728200-120739800	Weak transcription	Adipose Nuclei	Adipose
22	chr7:120728600-120741600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:120730000-120731200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:120730400-120739600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:120730400-120739800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:120730400-120739800	Weak transcription	NHDF-Ad	bronchial
27	chr7:120730600-120731800	Weak transcription	HSMM	muscle
28	chr7:120730800-120731000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:120730800-120732200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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