Variant report

Variant	rs1722501
Chromosome Location	chr7:80244694-80244695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80239752..80242160-chr7:80242540..80244695,3	K562	blood:
2	chr7:80057560..80058347-chr7:80243745..80244716,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10215288	1.00[EUR][1000 genomes]
rs10245610	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1093827	0.82[EUR][1000 genomes]
rs1093828	0.82[EUR][1000 genomes]
rs1093832	0.82[EUR][1000 genomes]
rs1194180	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1194203	0.85[EUR][1000 genomes]
rs1205467	0.96[EUR][1000 genomes]
rs12706918	1.00[EUR][1000 genomes]
rs1334513	1.00[EUR][1000 genomes]
rs1334514	1.00[EUR][1000 genomes]
rs1334516	1.00[EUR][1000 genomes]
rs1334517	1.00[EUR][1000 genomes]
rs1334518	0.89[EUR][1000 genomes]
rs1413656	0.96[EUR][1000 genomes]
rs1413657	1.00[EUR][1000 genomes]
rs1413659	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1413662	0.82[EUR][1000 genomes]
rs1524597	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1527463	1.00[EUR][1000 genomes]
rs1537592	1.00[EUR][1000 genomes]
rs1572230	1.00[EUR][1000 genomes]
rs17154246	0.92[EUR][1000 genomes]
rs1722503	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1722504	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1722508	0.96[EUR][1000 genomes]
rs1722509	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1722521	0.82[EUR][1000 genomes]
rs1761644	0.82[EUR][1000 genomes]
rs1761649	0.82[EUR][1000 genomes]
rs1761664	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1931697	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2366856	1.00[EUR][1000 genomes]
rs2691204	0.85[EUR][1000 genomes]
rs2781844	0.96[EUR][1000 genomes]
rs2781845	0.85[EUR][1000 genomes]
rs3211809	1.00[EUR][1000 genomes]
rs3211855	1.00[EUR][1000 genomes]
rs3211892	0.92[EUR][1000 genomes]
rs3211905	0.92[EUR][1000 genomes]
rs3211909	0.92[EUR][1000 genomes]
rs3211912	0.92[EUR][1000 genomes]
rs3211913	0.92[EUR][1000 genomes]
rs4728191	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs4731646	1.00[EUR][1000 genomes]
rs73371041	0.82[EUR][1000 genomes]
rs73371043	0.82[EUR][1000 genomes]
rs73371050	0.82[EUR][1000 genomes]
rs73373037	0.82[EUR][1000 genomes]
rs73376911	0.82[EUR][1000 genomes]
rs73376957	0.96[EUR][1000 genomes]
rs73709014	0.92[EUR][1000 genomes]
rs819438	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs819439	0.85[EUR][1000 genomes]
rs819440	0.85[EUR][1000 genomes]
rs819448	0.82[EUR][1000 genomes]
rs819449	0.82[EUR][1000 genomes]
rs819450	0.82[EUR][1000 genomes]
rs819458	0.82[EUR][1000 genomes]
rs867875	0.82[EUR][1000 genomes]
rs867877	0.82[EUR][1000 genomes]
rs945097	0.85[EUR][1000 genomes]
rs945098	0.82[EUR][1000 genomes]
rs945099	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr7:80240400-80245000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:80240600-80245200	Enhancers	Hela-S3	cervix
3	chr7:80241000-80246400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:80241000-80251200	Weak transcription	Psoas Muscle	Psoas
5	chr7:80241200-80245400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:80242200-80252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:80242600-80245000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:80243000-80244800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:80243000-80247200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:80243400-80244800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:80243400-80245400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:80243800-80245000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:80243800-80245000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:80243800-80245000	Enhancers	NHDF-Ad	bronchial
15	chr7:80244000-80244800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:80244000-80245000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:80244200-80244800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:80244200-80244800	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:80244200-80245000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr7:80244400-80244800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr7:80244400-80245600	Weak transcription	Fetal Heart	heart
22	chr7:80244400-80248000	Weak transcription	Left Ventricle	heart
23	chr7:80244400-80252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:80244400-80253000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:80244600-80244800	Enhancers	Right Atrium	heart
26	chr7:80244600-80244800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:80244600-80245400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:80244600-80251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:80244600-80251600	Weak transcription	Osteobl	bone

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