Variant report

Variant	rs12238387
Chromosome Location	chr9:94034568-94034569
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:45)

rs_ID	r²[population]
rs1022141	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10512209	0.87[CHD][hapmap];0.81[MEX][hapmap]
rs10991842	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991844	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991845	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991846	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991847	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991852	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991854	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991867	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10991868	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991871	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991874	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10991876	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10991879	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991883	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991884	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991885	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10991886	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991887	0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991892	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991893	0.83[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs10991894	0.82[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10991895	0.85[ASN][1000 genomes]
rs10991896	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991897	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991901	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991903	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991904	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991906	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16907269	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16907273	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16907280	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16907311	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907384	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2281922	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292365	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4430195	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537426	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868771	1.00[CEU][hapmap]

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	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93983000-94054000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:93984000-94052200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:93984000-94054600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:93995800-94052400	Weak transcription	Fetal Stomach	stomach
5	chr9:94004600-94051800	Weak transcription	Liver	Liver
6	chr9:94008600-94036200	Weak transcription	HSMM	muscle
7	chr9:94011400-94055400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:94019000-94034800	Weak transcription	Fetal Lung	lung
9	chr9:94019000-94036600	Weak transcription	NHDF-Ad	bronchial
10	chr9:94019000-94056600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:94019200-94037000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:94019200-94037400	Weak transcription	Psoas Muscle	Psoas
13	chr9:94019200-94040200	Weak transcription	Gastric	stomach
14	chr9:94019200-94059200	Weak transcription	Spleen	Spleen
15	chr9:94019400-94053400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:94019400-94068200	Weak transcription	Right Ventricle	heart
17	chr9:94019800-94044000	Weak transcription	Left Ventricle	heart
18	chr9:94023800-94048400	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:94024200-94034800	Weak transcription	Fetal Heart	heart
20	chr9:94024200-94054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:94024400-94048000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:94024400-94054600	Weak transcription	Primary B cells from cord blood	blood
23	chr9:94024800-94044600	Weak transcription	HepG2	liver
24	chr9:94024800-94059400	Weak transcription	Pancreas	Pancrea
25	chr9:94026000-94054000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr9:94026800-94046800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:94027000-94055000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr9:94028200-94053400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr9:94028600-94037800	Weak transcription	Fetal Kidney	kidney
30	chr9:94029000-94036600	Weak transcription	A549	lung
31	chr9:94029400-94080000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:94029800-94052400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:94030200-94052400	Weak transcription	Primary T cells from cord blood	blood
34	chr9:94032400-94035800	Enhancers	Fetal Brain Male	brain
35	chr9:94032600-94052600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr9:94032600-94055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:94032800-94035200	Weak transcription	Fetal Intestine Large	intestine
38	chr9:94032800-94041800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:94032800-94053200	Weak transcription	Ovary	ovary
40	chr9:94032800-94057000	Weak transcription	Aorta	Aorta
41	chr9:94033000-94034600	Weak transcription	Fetal Intestine Small	intestine
42	chr9:94033000-94035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:94033000-94037400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:94033600-94035400	Weak transcription	Brain Anterior Caudate	brain
45	chr9:94033800-94096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:94034400-94034800	Enhancers	Fetal Brain Female	brain
47	chr9:94034400-94035200	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links