Variant report

Variant	rs17052443
Chromosome Location	chr9:72891828-72891829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72890363..72893798-chr9:72895489..72899233,4	K562	blood:
2	chr9:72890860..72892777-chr9:73033370..73035957,2	K562	blood:
3	chr9:72884845..72889230-chr9:72890104..72893767,5	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10491653	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1073540	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10868808	0.91[CHB][hapmap]
rs11142363	0.91[CHB][hapmap]
rs11142367	0.92[CHB][hapmap]
rs11142368	0.92[CHB][hapmap]
rs11142370	0.92[CHB][hapmap]
rs11142373	0.92[CHB][hapmap]
rs1180101	0.92[CHB][hapmap]
rs1180102	0.92[CHB][hapmap]
rs1180104	0.92[CHB][hapmap]
rs1180105	0.92[CHB][hapmap]
rs1180107	0.92[CHB][hapmap]
rs1180112	0.91[CHB][hapmap]
rs1180117	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs1180118	0.92[CHB][hapmap]
rs1180122	0.92[CHB][hapmap]
rs1180124	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1180126	0.92[CHB][hapmap]
rs1180133	0.92[CHB][hapmap]
rs11998951	0.92[CHB][hapmap]
rs12006212	0.92[CHB][hapmap]
rs12156606	0.83[CHB][hapmap]
rs12380844	0.92[CHB][hapmap]
rs12683706	0.87[AMR][1000 genomes]
rs12683986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12684301	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12684987	0.87[AMR][1000 genomes]
rs12685322	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12685441	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12685491	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12685534	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12686312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12686573	0.87[AMR][1000 genomes]
rs12686584	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12686850	0.87[AMR][1000 genomes]
rs17051690	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17051696	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17052748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17053503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17088796	0.87[AMR][1000 genomes]
rs17088840	0.87[AMR][1000 genomes]
rs17088889	0.87[AMR][1000 genomes]
rs17088905	0.87[AMR][1000 genomes]
rs1927116	0.87[AMR][1000 genomes]
rs1927117	0.87[AMR][1000 genomes]
rs1927119	0.87[AMR][1000 genomes]
rs1927142	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1927143	0.81[ASN][1000 genomes]
rs1927148	0.92[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1927150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2026137	0.92[CHB][hapmap]
rs2026138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2148853	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2148865	0.87[AMR][1000 genomes]
rs2182732	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2296772	0.87[AMR][1000 genomes]
rs2296773	0.87[AMR][1000 genomes]
rs2871293	0.92[CHB][hapmap]
rs2871295	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3015223	0.87[AMR][1000 genomes]
rs34061327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35188046	0.87[AMR][1000 genomes]
rs35508139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3739773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4069793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4287005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4410968	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4439194	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4449855	0.92[CHB][hapmap]
rs4495496	0.87[AMR][1000 genomes]
rs4596711	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4602958	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4606121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4610818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4621877	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744994	0.92[CHB][hapmap]
rs56735283	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56860643	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57048128	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57398306	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57477024	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58219953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58662316	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58948879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58969772	0.81[AMR][1000 genomes]
rs58976318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59010963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59444215	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59546243	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59589460	0.87[AMR][1000 genomes]
rs59619263	0.87[AMR][1000 genomes]
rs59960592	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59976188	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60049462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60391643	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60458589	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61092050	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61265226	0.87[AMR][1000 genomes]
rs61266539	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7034322	0.92[CHB][hapmap]
rs7046167	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs716535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs753022	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs753023	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7858988	0.92[CHB][hapmap]
rs943536	0.92[CHB][hapmap]
rs943540	0.92[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs954808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats 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	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72875200-72901400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:72875400-72906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:72876000-72898200	Weak transcription	Fetal Brain Male	brain
5	chr9:72876000-72906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:72876400-72916800	Weak transcription	Colonic Mucosa	Colon
7	chr9:72876400-72939400	Weak transcription	Spleen	Spleen
8	chr9:72876400-72942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
10	chr9:72876800-72900200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:72877000-72895400	Weak transcription	Right Ventricle	heart
12	chr9:72877000-72904800	Weak transcription	Brain Germinal Matrix	brain
13	chr9:72877000-72939800	Weak transcription	Gastric	stomach
14	chr9:72877000-72942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:72877600-72909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:72877600-72935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:72877800-72892000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:72878400-72895000	Weak transcription	Fetal Brain Female	brain
19	chr9:72878600-72899600	Weak transcription	Fetal Heart	heart
20	chr9:72878600-72899800	Weak transcription	Small Intestine	intestine
21	chr9:72878600-72902400	Weak transcription	Brain Angular Gyrus	brain
22	chr9:72878600-72937600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr9:72879000-72898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:72880000-72895600	Weak transcription	Brain Substantia Nigra	brain
25	chr9:72880000-72939400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:72880200-72895400	Weak transcription	NHEK	skin
27	chr9:72880200-72906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:72880400-72895200	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:72880400-72895400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr9:72880400-72900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:72880800-72895400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:72881000-72905000	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:72881000-72905000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr9:72881600-72895400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:72882800-72893400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:72882800-72899800	Weak transcription	Ovary	ovary
37	chr9:72882800-72906000	Weak transcription	K562	blood
38	chr9:72883200-72899800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:72884600-72899800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:72884800-72894800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:72885000-72893400	Weak transcription	Placenta	Placenta
42	chr9:72885000-72894800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:72885200-72892800	Weak transcription	NH-A	brain
44	chr9:72885200-72894000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr9:72885200-72895000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr9:72885200-72895200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr9:72885200-72895400	Weak transcription	NHLF	lung
48	chr9:72885400-72893000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr9:72885400-72893200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:72885400-72893400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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