Variant report

Variant	rs7893530
Chromosome Location	chr10:98370520-98370521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98346216..98348806-chr10:98369688..98372310,2	K562	blood:
2	chr10:98346216..98350490-chr10:98369688..98376085,7	K562	blood:

Variant related genes	Relation type
ENSG00000077147	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10736113	0.84[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs10748684	0.82[EUR][1000 genomes]
rs10748685	0.82[EUR][1000 genomes]
rs10786302	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10786303	0.82[EUR][1000 genomes]
rs10786304	1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs11188835	0.84[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs11188849	0.82[EUR][1000 genomes]
rs11591933	0.84[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs11592156	0.91[EUR][1000 genomes]
rs11594403	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11596148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598142	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs11599054	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12247652	0.97[EUR][1000 genomes]
rs17391197	1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs17392013	0.84[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs2861626	0.82[EUR][1000 genomes]
rs4919039	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61858218	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6584088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072865	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7073125	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs7073735	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7093849	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7100639	0.83[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs74151387	0.84[AFR][1000 genomes]
rs744363	0.98[EUR][1000 genomes]
rs7910630	0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv895909	chr10:98354924-98382165	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7893530	NPY2R	trans	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98348000-98373600	Weak transcription	Left Ventricle	heart
2	chr10:98350800-98395600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr10:98352400-98378600	Strong transcription	Liver	Liver
4	chr10:98352400-98399400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr10:98352600-98403000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr10:98353000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:98353000-98403000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:98354600-98388600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:98354800-98370600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:98357800-98382000	Strong transcription	GM12878-XiMat	blood
11	chr10:98359400-98373400	Weak transcription	Right Ventricle	heart
12	chr10:98360400-98392800	Weak transcription	Thymus	Thymus
13	chr10:98362200-98389200	Strong transcription	Primary B cells from cord blood	blood
14	chr10:98362600-98373600	Weak transcription	Lung	lung
15	chr10:98363800-98392600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:98365600-98374200	Enhancers	Fetal Intestine Large	intestine
17	chr10:98365600-98374400	Enhancers	Fetal Intestine Small	intestine
18	chr10:98366000-98370600	Strong transcription	Spleen	Spleen
19	chr10:98366000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:98366400-98373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:98366600-98392600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:98367200-98372800	Strong transcription	Pancreas	Pancrea
23	chr10:98367200-98375000	Enhancers	Stomach Mucosa	stomach
24	chr10:98367200-98376200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:98367400-98375000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr10:98367400-98376200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:98367400-98418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:98367600-98372000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr10:98367800-98371800	Enhancers	Colonic Mucosa	Colon
30	chr10:98368400-98373600	Weak transcription	HSMM	muscle
31	chr10:98368600-98371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:98368800-98377800	Weak transcription	Brain Anterior Caudate	brain
33	chr10:98369000-98373400	Weak transcription	HSMMtube	muscle
34	chr10:98369200-98372600	Enhancers	HepG2	liver
35	chr10:98369400-98370600	Enhancers	Small Intestine	intestine
36	chr10:98369400-98371000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:98369400-98371000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr10:98369400-98371000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr10:98369400-98371200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr10:98369600-98371200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr10:98369800-98370600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:98370000-98373600	Weak transcription	Gastric	stomach
43	chr10:98370200-98370600	Enhancers	Primary T cells from cord blood	blood
44	chr10:98370200-98370600	Weak transcription	Placenta	Placenta
45	chr10:98370200-98370800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr10:98370200-98371000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr10:98370400-98370600	Genic enhancers	Primary hematopoietic stem cells	blood
48	chr10:98370400-98370600	Enhancers	Ovary	ovary
49	chr10:98370400-98370800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr10:98370400-98370800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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