Variant report

Variant	rs2820928
Chromosome Location	chr9:7180392-7180393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1011341	0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10511462	0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10815533	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1467700	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1887871	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1887872	0.97[ASN][1000 genomes]
rs1928212	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1958344	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2026709	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2026714	0.95[EUR][1000 genomes]
rs2094613	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2104682	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2248904	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2381570	0.95[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2381572	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2770728	0.94[ASN][1000 genomes]
rs2770729	0.94[ASN][1000 genomes]
rs2770730	0.98[ASN][1000 genomes]
rs2770731	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2770732	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2770733	0.96[ASN][1000 genomes]
rs2770734	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2770735	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2770736	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2770737	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2770741	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2770742	0.97[ASN][1000 genomes]
rs2770743	0.96[ASN][1000 genomes]
rs2770744	0.93[ASN][1000 genomes]
rs2770745	0.96[ASN][1000 genomes]
rs2770746	0.89[ASN][1000 genomes]
rs2770747	0.89[ASN][1000 genomes]
rs2820918	0.95[ASN][1000 genomes]
rs2820919	0.90[ASN][1000 genomes]
rs2820920	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2820922	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2820923	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2820925	0.97[ASN][1000 genomes]
rs2820926	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2820927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820929	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2820930	0.98[ASN][1000 genomes]
rs2820931	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2820934	0.97[ASN][1000 genomes]
rs3753002	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3753003	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7022054	0.95[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7874501	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs913584	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs913587	1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs913589	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs913590	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs913591	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs971380	0.95[ASN][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	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	nsv892192	chr9:7153009-7257340	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	esv2758178	chr9:7175387-7482982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2759662	chr9:7175387-7482982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7148600-7185400	Weak transcription	HMEC	breast
2	chr9:7149600-7185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:7149600-7186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:7151800-7188600	Weak transcription	Colonic Mucosa	Colon
5	chr9:7160800-7182000	Weak transcription	Dnd41	blood
6	chr9:7162600-7181600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:7162600-7182200	Weak transcription	Small Intestine	intestine
8	chr9:7163400-7180600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:7165800-7183800	Weak transcription	Esophagus	oesophagus
10	chr9:7165800-7185400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:7166200-7181000	Weak transcription	Hela-S3	cervix
12	chr9:7167200-7185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:7169200-7183000	Strong transcription	Primary T cells from cord blood	blood
14	chr9:7171200-7188200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:7171200-7193000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:7172000-7182400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:7172000-7183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr9:7172600-7185400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr9:7172800-7185400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:7172800-7185400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:7172800-7185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:7173000-7185600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:7173200-7182400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:7173200-7185200	Weak transcription	NHLF	lung
25	chr9:7173200-7185400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:7173400-7185400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:7173400-7185800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:7173400-7185800	Weak transcription	Brain Anterior Caudate	brain
29	chr9:7173400-7186200	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:7173400-7186400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:7175000-7183600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:7175000-7191800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr9:7175200-7182000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:7175200-7187800	Weak transcription	Ovary	ovary
35	chr9:7176200-7181200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr9:7176200-7183800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:7176200-7185400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:7176200-7185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:7176400-7180400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:7176400-7181600	Weak transcription	HepG2	liver
41	chr9:7176400-7181800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:7176400-7183000	Weak transcription	Thymus	Thymus
43	chr9:7176400-7184400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr9:7176400-7185000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr9:7176400-7185600	Weak transcription	Spleen	Spleen
46	chr9:7176400-7185800	Weak transcription	Left Ventricle	heart
47	chr9:7176400-7186000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:7176400-7186000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:7176400-7186200	Weak transcription	Adipose Nuclei	Adipose
50	chr9:7176400-7186200	Weak transcription	Pancreas	Pancrea

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