Variant report

Variant	rs17143275
Chromosome Location	chr7:120928217-120928218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10226789	1.00[EUR][1000 genomes]
rs10234305	1.00[EUR][1000 genomes]
rs10250624	1.00[CHB][hapmap]
rs11768996	1.00[CHB][hapmap]
rs12706337	1.00[CHB][hapmap]
rs12706338	1.00[CHB][hapmap]
rs12706341	1.00[CHB][hapmap]
rs1990446	1.00[CHB][hapmap]
rs2041490	1.00[CHB][hapmap]
rs2240982	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs2536155	1.00[CHB][hapmap]
rs2536163	1.00[CHB][hapmap]
rs2536165	1.00[CHB][hapmap]
rs2536166	1.00[CHB][hapmap]
rs2536167	1.00[CHB][hapmap]
rs2536175	1.00[CHB][hapmap]
rs2707461	1.00[CHB][hapmap]
rs2707465	1.00[CHB][hapmap]
rs2707467	1.00[CHB][hapmap]
rs2707469	1.00[CHB][hapmap]
rs2707473	1.00[CHB][hapmap]
rs2707474	1.00[CHB][hapmap]
rs2707479	1.00[CHB][hapmap]
rs2707491	1.00[CHB][hapmap]
rs2707496	1.00[CHB][hapmap]
rs2707505	1.00[CHB][hapmap]
rs2707507	0.86[CHB][hapmap]
rs2908006	1.00[CHB][hapmap]
rs41335249	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466778	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466779	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953489	1.00[EUR][1000 genomes]
rs6957332	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780789	1.00[CHB][hapmap]
rs7782648	1.00[CHB][hapmap]
rs7792993	1.00[CHB][hapmap]
rs7803971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7809843	1.00[YRI][hapmap]
rs997782	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 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	chr7:120909000-120933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:120910200-120930000	Weak transcription	Fetal Lung	lung
5	chr7:120910200-120933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:120920600-120935400	Weak transcription	HSMMtube	muscle
7	chr7:120924200-120930000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:120925200-120929600	Strong transcription	K562	blood
9	chr7:120925400-120932800	Weak transcription	Fetal Stomach	stomach
10	chr7:120925400-120932800	Weak transcription	Right Ventricle	heart
11	chr7:120925400-120935600	Weak transcription	Fetal Heart	heart
12	chr7:120925600-120929000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:120925600-120934400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:120926200-120930000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:120926200-120941000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:120926600-120937600	Weak transcription	Ovary	ovary
17	chr7:120926800-120930000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:120927000-120928800	Enhancers	HMEC	breast
19	chr7:120927200-120929200	Enhancers	NHDF-Ad	bronchial
20	chr7:120927200-120929400	Enhancers	NHLF	lung
21	chr7:120927200-120929600	Enhancers	NH-A	brain
22	chr7:120927200-120929800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:120927400-120929400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:120927400-120929600	Enhancers	Osteobl	bone
25	chr7:120927400-120929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:120927400-120933400	Weak transcription	Aorta	Aorta
27	chr7:120927400-120933800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:120927600-120928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:120927600-120928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:120927600-120929000	Weak transcription	NHEK	skin
31	chr7:120927600-120930000	Weak transcription	Adipose Nuclei	Adipose
32	chr7:120927600-120933200	Weak transcription	Left Ventricle	heart
33	chr7:120927600-120933400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:120927600-120935200	Weak transcription	Liver	Liver
35	chr7:120927600-120935600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:120927800-120928400	Weak transcription	HSMM	muscle
37	chr7:120928000-120935600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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