Variant report

Variant	rs11596148
Chromosome Location	chr10:98377488-98377489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:98376210-98377904	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:98377335-98377534	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:98377378-98377722	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98376151..98378929-chr10:98479647..98482597,2	K562	blood:
2	chr10:98376679..98380080-chr10:98381155..98385346,4	MCF-7	breast:

Variant related genes	Relation type
RNA5SP324	TF binding region
ENSG00000155629	Chromatin interaction
ENSG00000227032	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10736113	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs10748684	0.83[EUR][1000 genomes]
rs10748685	0.83[EUR][1000 genomes]
rs10786302	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10786303	0.83[EUR][1000 genomes]
rs10786304	1.00[JPT][hapmap]
rs11188835	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11188849	0.83[EUR][1000 genomes]
rs11188850	0.81[EUR][1000 genomes]
rs11591933	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11592156	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11594403	0.91[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs11598142	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs11599054	0.83[EUR][1000 genomes]
rs12247652	1.00[EUR][1000 genomes]
rs17391197	1.00[JPT][hapmap]
rs17392013	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs2861626	0.83[EUR][1000 genomes]
rs35158237	1.00[AFR][1000 genomes]
rs4919039	0.83[EUR][1000 genomes]
rs61858218	0.99[EUR][1000 genomes]
rs6584088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072865	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs7073125	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7073735	0.82[EUR][1000 genomes]
rs7093849	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7100639	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs744363	0.99[EUR][1000 genomes]
rs7893530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3333231	chr10:98375362-98379560	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98350800-98395600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr10:98352400-98378600	Strong transcription	Liver	Liver
3	chr10:98352400-98399400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr10:98352600-98403000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:98353000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:98353000-98403000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:98354600-98388600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:98357800-98382000	Strong transcription	GM12878-XiMat	blood
9	chr10:98360400-98392800	Weak transcription	Thymus	Thymus
10	chr10:98362200-98389200	Strong transcription	Primary B cells from cord blood	blood
11	chr10:98363800-98392600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:98366000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:98366600-98392600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:98367400-98418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:98368800-98377800	Weak transcription	Brain Anterior Caudate	brain
16	chr10:98370800-98378600	Weak transcription	Brain Substantia Nigra	brain
17	chr10:98371000-98378800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr10:98371000-98382600	Strong transcription	Spleen	Spleen
19	chr10:98371000-98388600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:98371000-98389000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:98371800-98378600	Weak transcription	Colonic Mucosa	Colon
22	chr10:98372200-98388600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr10:98373400-98378000	Enhancers	Right Ventricle	heart
24	chr10:98374000-98377600	Strong transcription	Placenta	Placenta
25	chr10:98374000-98378600	Weak transcription	Gastric	stomach
26	chr10:98374000-98378600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:98374000-98379000	Weak transcription	Lung	lung
28	chr10:98374200-98378400	Weak transcription	Fetal Intestine Large	intestine
29	chr10:98374400-98378600	Weak transcription	HepG2	liver
30	chr10:98374400-98390200	Weak transcription	Small Intestine	intestine
31	chr10:98374800-98379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:98375000-98377600	Weak transcription	Fetal Intestine Small	intestine
33	chr10:98375000-98378400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr10:98375200-98378400	Weak transcription	HSMM	muscle
35	chr10:98375200-98379400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:98375600-98378400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:98375600-98380800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr10:98375800-98390200	Weak transcription	Adipose Nuclei	Adipose
39	chr10:98376000-98377600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr10:98376000-98378400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr10:98376400-98380400	Enhancers	Fetal Heart	heart
42	chr10:98376400-98381200	Enhancers	Ovary	ovary
43	chr10:98376600-98378400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:98376600-98380400	Enhancers	Left Ventricle	heart
45	chr10:98376800-98377600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:98376800-98377600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr10:98376800-98381000	Enhancers	Right Atrium	heart
48	chr10:98377000-98379600	Enhancers	HSMMtube	muscle
49	chr10:98377000-98380800	Enhancers	Fetal Lung	lung
50	chr10:98377200-98379200	Enhancers	Psoas Muscle	Psoas

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