Variant report

Variant	rs3780574
Chromosome Location	chr9:98734891-98734892
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10983321	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs10988581	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10988804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787559	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11790370	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11790491	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793298	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11794054	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683634	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12685221	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12686222	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12686457	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1360064	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16910262	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16910296	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16910298	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16910418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1831228	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1999023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2026032	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2069053	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34533243	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4532708	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4742775	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4742781	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4743372	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743417	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4743418	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743472	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7048414	0.90[CEU][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes]
rs73536517	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73656544	0.82[EUR][1000 genomes]
rs7868270	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	nsv893599	chr9:98542410-98991254	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv893600	chr9:98608989-98775459	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3780574	C9orf130	Cis_1M	lymphoblastoid	RTeQTL
rs3780574	LINC00476	cis	Whole Blood	GTEx
rs3780574	LINC00476	cis	Esophagus Mucosa	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98681800-98736600	Weak transcription	Colonic Mucosa	Colon
2	chr9:98686400-98743800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr9:98695800-98742400	Weak transcription	NHLF	lung
4	chr9:98706400-98777400	Weak transcription	Psoas Muscle	Psoas
5	chr9:98710000-98735000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:98710400-98741400	Weak transcription	Brain Anterior Caudate	brain
7	chr9:98711000-98743400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:98714000-98782600	Weak transcription	HUVEC	blood vessel
9	chr9:98719000-98738600	Weak transcription	Aorta	Aorta
10	chr9:98719000-98743800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr9:98719000-98751400	Weak transcription	Stomach Mucosa	stomach
12	chr9:98719200-98744000	Weak transcription	Brain Substantia Nigra	brain
13	chr9:98719200-98744400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:98719200-98749600	Weak transcription	Fetal Intestine Small	intestine
15	chr9:98719200-98749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:98719200-98752800	Weak transcription	Pancreas	Pancrea
17	chr9:98719200-98764200	Weak transcription	Spleen	Spleen
18	chr9:98719200-98767800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:98719400-98742800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:98719400-98744000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:98719400-98744000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:98719400-98767200	Weak transcription	Right Ventricle	heart
23	chr9:98719400-98771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:98719600-98743800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:98719600-98766800	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:98720000-98735600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr9:98722400-98747800	Weak transcription	Fetal Heart	heart
28	chr9:98723800-98749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:98725400-98743600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:98726400-98767800	Weak transcription	Gastric	stomach
31	chr9:98728600-98736400	Strong transcription	Dnd41	blood
32	chr9:98730000-98744400	Weak transcription	Fetal Stomach	stomach
33	chr9:98730600-98751200	Weak transcription	Small Intestine	intestine
34	chr9:98731600-98736200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr9:98731600-98736400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr9:98731800-98735400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:98731800-98736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:98732000-98735400	Strong transcription	NH-A	brain
39	chr9:98732000-98735600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr9:98732200-98747400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:98732200-98751200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:98732600-98736600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:98732600-98737000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:98732600-98737000	Strong transcription	Fetal Lung	lung
45	chr9:98732600-98741000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:98732800-98735200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr9:98732800-98736400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr9:98732800-98736400	Strong transcription	Adipose Nuclei	Adipose
49	chr9:98732800-98736600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:98732800-98736800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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