Variant report

Variant	rs73438293
Chromosome Location	chr7:120954161-120954162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2536188	0.82[ASN][1000 genomes]
rs2536190	0.82[ASN][1000 genomes]
rs2536191	0.85[ASN][1000 genomes]
rs2707467	0.82[ASN][1000 genomes]
rs2707470	0.82[ASN][1000 genomes]
rs2707472	0.82[ASN][1000 genomes]
rs2707473	0.82[ASN][1000 genomes]
rs2707474	0.82[ASN][1000 genomes]
rs2707503	0.82[ASN][1000 genomes]
rs2707516	0.82[ASN][1000 genomes]
rs2908006	0.85[ASN][1000 genomes]
rs2908010	0.85[ASN][1000 genomes]
rs56293108	0.82[ASN][1000 genomes]
rs57275855	0.85[ASN][1000 genomes]
rs60736586	0.82[ASN][1000 genomes]
rs62476334	0.86[ASN][1000 genomes]
rs6943521	0.94[ASN][1000 genomes]
rs6954568	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6972181	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6972247	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73440208	0.85[ASN][1000 genomes]
rs73440215	0.85[ASN][1000 genomes]
rs73440221	0.82[ASN][1000 genomes]
rs73720406	0.82[ASN][1000 genomes]
rs7780789	0.85[ASN][1000 genomes]
rs7782648	0.85[ASN][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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120952800-120955000	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:120953000-120954200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr7:120953000-120954600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:120953200-120954200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:120953200-120954200	Flanking Active TSS	NHEK	skin
6	chr7:120953200-120954400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:120953200-120954400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:120953200-120954600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:120953200-120954600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:120953200-120954600	Flanking Active TSS	Hela-S3	cervix
11	chr7:120953400-120954400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:120953400-120954400	Enhancers	HSMM	muscle
13	chr7:120953400-120954600	Enhancers	Adipose Nuclei	Adipose
14	chr7:120953400-120954800	Enhancers	NHDF-Ad	bronchial
15	chr7:120953600-120954200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:120953600-120954200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:120953600-120954200	Enhancers	Stomach Mucosa	stomach
18	chr7:120953600-120954400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:120953600-120954400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:120953600-120954600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:120953600-120954600	Flanking Active TSS	Osteobl	bone
22	chr7:120953800-120954200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr7:120953800-120954200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:120953800-120954200	Enhancers	NHLF	lung
25	chr7:120953800-120954400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:120953800-120954400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:120953800-120954400	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:120953800-120954400	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr7:120953800-120954400	Enhancers	Fetal Muscle Leg	muscle
30	chr7:120953800-120954600	Enhancers	Fetal Intestine Large	intestine
31	chr7:120953800-120954600	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:120953800-120954800	Enhancers	Fetal Kidney	kidney
33	chr7:120954000-120954200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:120954000-120954200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:120954000-120954400	Enhancers	HMEC	breast
36	chr7:120954000-120954600	Flanking Active TSS	Liver	Liver

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