Variant report

Variant	rs3780449
Chromosome Location	chr9:100965307-100965308
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100960639..100963416-chr9:100964074..100967407,4	K562	blood:
2	chr9:100964784..100967101-chr9:101553869..101555931,2	K562	blood:
3	chr9:100962685..100965590-chr9:101014024..101016888,3	K562	blood:
4	chr9:100965216..100966924-chr9:101011389..101013937,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10818669	0.82[AMR][1000 genomes]
rs10985366	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10985441	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469802	0.81[AMR][1000 genomes]
rs2023361	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2181581	0.81[ASN][1000 genomes]
rs2417893	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2900463	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3739664	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3739665	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap]
rs3739666	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780450	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743186	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6478596	0.81[ASN][1000 genomes]
rs6478597	0.81[ASN][1000 genomes]
rs7021760	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs733040	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7850360	0.82[AMR][1000 genomes]
rs7855855	0.87[CHB][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs942166	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised 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	17 gene(s)	inside rSNPs	diseases
6	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3780449	CORO2A	cis	Whole Blood	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-100970400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr9:100955800-100970400	Weak transcription	Left Ventricle	heart
3	chr9:100955800-100970400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:100955800-100970600	Weak transcription	Ovary	ovary
5	chr9:100955800-100970600	Weak transcription	Right Ventricle	heart
6	chr9:100955800-100975000	Weak transcription	Primary B cells from cord blood	blood
7	chr9:100955800-100975000	Weak transcription	NHDF-Ad	bronchial
8	chr9:100955800-100975200	Weak transcription	NH-A	brain
9	chr9:100955800-100975600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:100956000-100969800	Weak transcription	Primary T cells from cord blood	blood
12	chr9:100956000-100970000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:100956000-100970600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:100956000-100971000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:100956000-100981000	Weak transcription	A549	lung
16	chr9:100956200-100967800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:100956200-100967800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr9:100956200-100967800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:100956200-100968000	Weak transcription	Stomach Mucosa	stomach
20	chr9:100956200-100970000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:100956200-100973000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr9:100957000-100967800	Strong transcription	Fetal Intestine Small	intestine
23	chr9:100957800-100968400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:100958000-100967200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:100958200-100967800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:100958200-100968400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:100958600-100968200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:100958600-100985400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr9:100959200-100967800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:100959200-100977000	Strong transcription	HMEC	breast
31	chr9:100959600-100984400	Strong transcription	Osteobl	bone
32	chr9:100959800-100965400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr9:100959800-100966400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:100959800-100985200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr9:100960000-100966200	Strong transcription	Esophagus	oesophagus
36	chr9:100960000-100966400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:100960000-100967200	Strong transcription	Placenta	Placenta
38	chr9:100960000-100967400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:100960000-100967600	Strong transcription	Lung	lung
40	chr9:100960000-100967800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:100960000-100968200	Strong transcription	NHEK	skin
42	chr9:100960200-100965800	Strong transcription	Spleen	Spleen
43	chr9:100960200-100966000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:100960200-100966000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:100960200-100967200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:100960400-100965800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr9:100960400-100966200	Strong transcription	Liver	Liver
48	chr9:100960400-100967800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr9:100960600-100966000	Strong transcription	Gastric	stomach
50	chr9:100960600-100966400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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