Variant report

Variant	rs17508690
Chromosome Location	chr7:120914373-120914374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120902142..120904309-chr7:120913749..120915446,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10953933	0.82[JPT][hapmap]
rs12164093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1541508	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1541509	0.84[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs17284876	1.00[LWK][hapmap]
rs17356657	1.00[LWK][hapmap]
rs17508777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35061352	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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
2	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
3	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
4	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
5	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1027619	chr7:120906437-120976630	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
2	chr7:120888800-120937800	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:120893400-120916600	Strong transcription	K562	blood
4	chr7:120893400-120916800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:120895800-120923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:120897600-120917200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:120900000-120918200	Weak transcription	Osteobl	bone
8	chr7:120903000-120918000	Strong transcription	HSMM	muscle
9	chr7:120904600-120918200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:120908800-120918200	Weak transcription	HSMMtube	muscle
11	chr7:120909000-120916400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:120909000-120919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:120909000-120923600	Weak transcription	Fetal Stomach	stomach
14	chr7:120909000-120923600	Weak transcription	Right Ventricle	heart
15	chr7:120909000-120933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:120909200-120923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:120909600-120920600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:120910200-120915000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:120910200-120923600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:120910200-120930000	Weak transcription	Fetal Lung	lung
21	chr7:120910200-120933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:120911600-120914600	Enhancers	GM12878-XiMat	blood
23	chr7:120912200-120914400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr7:120912800-120917400	Weak transcription	Ovary	ovary
25	chr7:120913000-120920400	Weak transcription	Left Ventricle	heart
26	chr7:120913000-120923600	Weak transcription	Aorta	Aorta
27	chr7:120913200-120914600	Enhancers	Dnd41	blood
28	chr7:120913400-120914400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:120913600-120915200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:120914000-120914800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:120914000-120916200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:120914000-120918000	Strong transcription	Adipose Nuclei	Adipose
33	chr7:120914000-120918200	Weak transcription	NHLF	lung
34	chr7:120914200-120914800	Enhancers	NHDF-Ad	bronchial
35	chr7:120914200-120915800	Enhancers	Liver	Liver

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