Variant report

Variant	rs73510289
Chromosome Location	chr9:108056998-108056999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12341869	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57877883	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59290851	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6479300	0.97[AFR][1000 genomes]
rs6479301	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6479302	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6479303	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6479304	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7024012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7026389	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7033929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7039638	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7046185	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7048497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72744219	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72744225	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73510211	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510218	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73666622	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73666624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73666625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7847744	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7847952	0.91[AFR][1000 genomes]
rs7853038	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7853709	0.83[AMR][1000 genomes]
rs7854064	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7854282	1.00[AMR][1000 genomes]
rs7857088	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7860356	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7869261	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7873924	0.83[AMR][1000 genomes]
rs7874307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9777083	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108043600-108057400	Weak transcription	HSMM	muscle
2	chr9:108043600-108059400	Weak transcription	NHLF	lung
3	chr9:108043600-108059800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:108049400-108074200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:108049800-108057400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr9:108050200-108061400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:108050200-108061800	Weak transcription	Fetal Stomach	stomach
8	chr9:108051000-108057800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:108051000-108061600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:108052400-108061400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:108052600-108058200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:108052600-108058200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:108052800-108058000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:108052800-108061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:108053000-108063000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:108053200-108057600	Weak transcription	Small Intestine	intestine
17	chr9:108053200-108058400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:108053400-108061400	Weak transcription	Aorta	Aorta
19	chr9:108053600-108058600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:108053600-108060000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:108053600-108061600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:108053800-108057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:108053800-108059800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:108053800-108061400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:108054000-108058200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:108054000-108058200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:108054000-108058400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:108054000-108058800	Weak transcription	Fetal Intestine Small	intestine
29	chr9:108054000-108059000	Weak transcription	Adipose Nuclei	Adipose
30	chr9:108054000-108059800	Weak transcription	Lung	lung
31	chr9:108054000-108065400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:108054000-108070000	Weak transcription	Gastric	stomach
33	chr9:108054200-108057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:108054200-108058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:108054200-108058400	Weak transcription	NHEK	skin
36	chr9:108054200-108059600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:108054200-108061800	Weak transcription	Pancreas	Pancrea
38	chr9:108054400-108057800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:108054400-108058400	Weak transcription	HMEC	breast
40	chr9:108054400-108059000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr9:108054400-108059400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr9:108054400-108060000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr9:108054400-108060400	Enhancers	HepG2	liver
44	chr9:108054400-108061400	Weak transcription	Right Ventricle	heart
45	chr9:108054600-108057200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:108054600-108058400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:108054600-108058800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:108054600-108059000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:108054600-108059200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr9:108054600-108061800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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