Variant report

Variant	rs1175930
Chromosome Location	chr9:94990794-94990795
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94983419..94986395-chr9:94989687..94991728,4	K562	blood:
2	chr9:94902303..94904677-chr9:94990181..94992841,2	MCF-7	breast:
3	chr9:94987548..94989488-chr9:94989589..94991476,2	MCF-7	breast:
4	chr9:94987677..94991575-chr9:94991944..94994722,3	K562	blood:

Variant related genes	Relation type
ENSG00000225511	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10125510	0.88[EUR][1000 genomes]
rs1058726	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1058751	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10733744	0.88[EUR][1000 genomes]
rs10761159	0.88[EUR][1000 genomes]
rs1144933	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152760	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152761	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152762	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1175737	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1175923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1175929	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1175931	0.81[EUR][1000 genomes]
rs11787696	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11788610	0.83[EUR][1000 genomes]
rs11789578	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11790257	0.89[ASN][1000 genomes]
rs11791931	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11792542	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11793505	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11794966	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12001812	0.89[AFR][1000 genomes]
rs12555097	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2084289	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295939	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2398749	0.83[EUR][1000 genomes]
rs2761680	0.88[EUR][1000 genomes]
rs3894058	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41280213	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41280215	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs472163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743862	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4743864	0.89[ASN][1000 genomes]
rs4743866	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4743867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743868	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743871	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744123	0.89[ASN][1000 genomes]
rs4744124	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4744125	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs501814	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs556155	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs557066	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55894730	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56110031	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56308715	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56374228	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6479421	0.88[EUR][1000 genomes]
rs7042199	0.88[EUR][1000 genomes]
rs72748400	0.83[EUR][1000 genomes]
rs72748402	0.83[EUR][1000 genomes]
rs7864453	0.88[EUR][1000 genomes]
rs895639	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9409465	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409466	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409467	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409469	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9409659	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409660	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409661	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9409663	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9409665	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9409666	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs944949	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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 miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94974000-94999000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:94982800-94990800	Strong transcription	Liver	Liver
3	chr9:94982800-94990800	Strong transcription	Ovary	ovary
4	chr9:94982800-94991000	Strong transcription	Spleen	Spleen
5	chr9:94982800-94991200	Strong transcription	Fetal Stomach	stomach
6	chr9:94982800-94991400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:94982800-94991600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr9:94982800-94992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:94982800-94992400	Strong transcription	Fetal Muscle Leg	muscle
10	chr9:94982800-94993000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:94982800-94993800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr9:94982800-95038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:94982800-95045600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:94983000-94991400	Strong transcription	Thymus	Thymus
15	chr9:94983200-94991000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:94983200-94991000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:94983200-94992600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:94984000-95012400	Weak transcription	Stomach Mucosa	stomach
19	chr9:94985200-95001000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:94986000-95000600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:94988400-94990800	Weak transcription	Esophagus	oesophagus
22	chr9:94988400-94990800	Weak transcription	Pancreas	Pancrea
23	chr9:94988400-95000800	Weak transcription	Aorta	Aorta
24	chr9:94988600-94991200	Weak transcription	HMEC	breast
25	chr9:94988800-94990800	Weak transcription	Fetal Kidney	kidney
26	chr9:94988800-94991000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:94988800-95000400	Weak transcription	Fetal Heart	heart
28	chr9:94989000-94991000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:94989000-94991000	Weak transcription	Hela-S3	cervix
30	chr9:94989000-94991000	Weak transcription	NHDF-Ad	bronchial
31	chr9:94990000-94990800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:94990000-94991400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:94990000-94991400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:94990000-94991600	Strong transcription	Left Ventricle	heart
35	chr9:94990000-94992000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:94990000-94992200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:94990000-94992400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:94990000-94993400	Strong transcription	Brain Anterior Caudate	brain
39	chr9:94990200-94991000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:94990200-94991000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:94990200-94991000	Strong transcription	Colonic Mucosa	Colon
42	chr9:94990200-94991200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:94990200-94991200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:94990200-94991200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:94990200-94991200	ZNF genes & repeats	Lung	lung
46	chr9:94990200-94991400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr9:94990200-94991400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:94990200-94991400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:94990200-94991400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr9:94990200-94991400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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