Variant report

Variant	rs73385128
Chromosome Location	chr9:5978782-5978783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10116214	1.00[EUR][1000 genomes]
rs10125832	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10975350	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10975351	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10975362	1.00[EUR][1000 genomes]
rs10975363	1.00[EUR][1000 genomes]
rs10975364	1.00[EUR][1000 genomes]
rs10975367	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10975372	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10975377	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11506678	1.00[EUR][1000 genomes]
rs11793956	0.92[ASN][1000 genomes]
rs12337300	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12337445	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12337790	1.00[EUR][1000 genomes]
rs12339713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339886	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339889	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12340153	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12340531	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12341021	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342166	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12342282	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12343325	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12345849	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12351533	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12352918	0.88[AFR][1000 genomes]
rs1411949	1.00[EUR][1000 genomes]
rs28431078	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28706504	1.00[EUR][1000 genomes]
rs386775	1.00[EUR][1000 genomes]
rs57154492	1.00[EUR][1000 genomes]
rs58291302	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60037728	1.00[EUR][1000 genomes]
rs7022080	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7029847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73389036	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389044	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397307	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73397376	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399307	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73639554	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73639568	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7854980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7858084	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7858846	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7874032	0.92[ASN][1000 genomes]
rs7875607	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9299025	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5940000-6006800	Weak transcription	Gastric	stomach
2	chr9:5948000-6006000	Weak transcription	Right Ventricle	heart
3	chr9:5950600-6006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:5955000-5993600	Weak transcription	Lung	lung
5	chr9:5956200-5988000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:5957400-6004400	Weak transcription	Brain Germinal Matrix	brain
7	chr9:5957600-5991800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:5958200-5986200	Weak transcription	Thymus	Thymus
9	chr9:5965400-5986800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:5967000-5996600	Weak transcription	Brain Angular Gyrus	brain
11	chr9:5967200-5983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:5967200-6006000	Weak transcription	Colonic Mucosa	Colon
13	chr9:5968000-5987000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:5968200-5986200	Weak transcription	Brain Anterior Caudate	brain
15	chr9:5968400-6005600	Weak transcription	Fetal Kidney	kidney
16	chr9:5969000-5982400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:5969000-5982400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:5969200-5987000	Weak transcription	A549	lung
19	chr9:5969200-5996800	Weak transcription	HMEC	breast
20	chr9:5969400-5982400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr9:5969400-5985200	Weak transcription	Placenta	Placenta
22	chr9:5969400-5985800	Weak transcription	Adipose Nuclei	Adipose
23	chr9:5969400-5987000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:5969400-5999600	Weak transcription	HSMMtube	muscle
25	chr9:5969800-5981000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr9:5972200-5982200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:5972200-6005800	Weak transcription	NH-A	brain
28	chr9:5972400-5982400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:5972600-5982400	Weak transcription	NHEK	skin
30	chr9:5972600-5982400	Weak transcription	Osteobl	bone
31	chr9:5972800-5981000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr9:5972800-5981600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr9:5972800-5986200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:5973200-5979400	Weak transcription	Fetal Brain Male	brain
35	chr9:5973600-5990600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:5974000-5982200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:5974000-5982200	Weak transcription	Aorta	Aorta
38	chr9:5974000-5982400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr9:5974000-5988200	Weak transcription	Fetal Intestine Small	intestine
40	chr9:5974000-5989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:5974000-5990800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:5974000-5991400	Weak transcription	Esophagus	oesophagus
43	chr9:5974000-6006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:5974400-5999600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr9:5974800-5982200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:5974800-5990600	Weak transcription	HepG2	liver
47	chr9:5974800-6001000	Weak transcription	Fetal Brain Female	brain
48	chr9:5975000-5981200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:5975000-5982200	Weak transcription	Fetal Lung	lung
50	chr9:5975000-5987000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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