Variant report

Variant	rs7320900
Chromosome Location	chr13:76346623-76346624
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1036869	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2031241	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2120067	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2120068	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4885349	0.81[EUR][1000 genomes]
rs7139507	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7321748	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7322414	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7326714	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7331429	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7992526	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9530467	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9544043	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9573658	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9573659	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:76337400-76347600	Weak transcription	Gastric	stomach
3	chr13:76338000-76356800	Weak transcription	Brain Anterior Caudate	brain
4	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
5	chr13:76338600-76356600	Weak transcription	Left Ventricle	heart
6	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
7	chr13:76339000-76348200	Enhancers	Fetal Intestine Small	intestine
8	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
9	chr13:76340200-76347200	Weak transcription	Pancreas	Pancrea
10	chr13:76340200-76349200	Enhancers	NHDF-Ad	bronchial
11	chr13:76340800-76347200	Enhancers	HepG2	liver
12	chr13:76341800-76352800	Weak transcription	Primary T cells from cord blood	blood
13	chr13:76342400-76357800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr13:76343000-76348200	Enhancers	Fetal Intestine Large	intestine
15	chr13:76343000-76349200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:76343200-76346800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:76343400-76346800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr13:76343400-76347400	Enhancers	Fetal Kidney	kidney
19	chr13:76343400-76347800	Enhancers	HSMMtube	muscle
20	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:76343800-76348400	Genic enhancers	HSMM	muscle
22	chr13:76344000-76346800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr13:76344400-76347400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:76344600-76346800	Enhancers	Fetal Heart	heart
25	chr13:76344600-76347200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr13:76344600-76347400	Enhancers	NHEK	skin
27	chr13:76344800-76356800	Weak transcription	Fetal Lung	lung
28	chr13:76345200-76351000	Weak transcription	Placenta	Placenta
29	chr13:76345400-76346800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr13:76345800-76352800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:76346000-76347200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:76346200-76347200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:76346200-76347800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr13:76346200-76347800	Enhancers	Stomach Mucosa	stomach
35	chr13:76346200-76347800	Enhancers	NH-A	brain
36	chr13:76346200-76348000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr13:76346200-76348400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:76346200-76349000	Enhancers	NHLF	lung
39	chr13:76346400-76346800	Enhancers	Duodenum Mucosa	Duodenum
40	chr13:76346400-76346800	Flanking Active TSS	Osteobl	bone
41	chr13:76346400-76347000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:76346400-76347200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:76346400-76347200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr13:76346400-76347600	Weak transcription	Liver	Liver
45	chr13:76346400-76347800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:76346400-76347800	Genic enhancers	Hela-S3	cervix
47	chr13:76346400-76348200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:76346600-76346800	Enhancers	Ovary	ovary
49	chr13:76346600-76347200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:76346600-76347200	Enhancers	Small Intestine	intestine

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