Variant report

Variant	rs11594765
Chromosome Location	chr10:49912521-49912522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49905425..49907287-chr10:49911171..49913733,2	MCF-7	breast:
2	chr10:49907771..49909890-chr10:49911982..49914593,2	K562	blood:
3	chr10:49906264..49908604-chr10:49911628..49913491,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11597850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17698635	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17771282	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17771443	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871609	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377624	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377625	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838642	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838644	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838415	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61838425	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787297	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7912944	0.85[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1049259	chr10:49901984-49924310	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv895373	chr10:49911737-49933488	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49897000-49918200	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr10:49907400-49917800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:49908200-49922800	Weak transcription	Spleen	Spleen
4	chr10:49910000-49914000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:49910200-49913200	Enhancers	Fetal Lung	lung
6	chr10:49910800-49917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:49911000-49917800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:49911000-49917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:49911400-49913400	Enhancers	Placenta	Placenta
10	chr10:49911400-49913800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr10:49911400-49914200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:49911600-49913400	Strong transcription	Primary B cells from cord blood	blood
13	chr10:49911800-49912600	Enhancers	Fetal Muscle Leg	muscle
14	chr10:49911800-49913000	Genic enhancers	GM12878-XiMat	blood
15	chr10:49911800-49913200	Enhancers	Left Ventricle	heart
16	chr10:49912000-49912600	Enhancers	Right Ventricle	heart
17	chr10:49912000-49912800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:49912000-49913200	Enhancers	Lung	lung
19	chr10:49912000-49913200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr10:49912200-49912600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:49912200-49912800	Enhancers	Esophagus	oesophagus
22	chr10:49912200-49913000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:49912200-49913000	Bivalent Enhancer	Fetal Stomach	stomach
24	chr10:49912200-49913800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr10:49912200-49916400	Enhancers	Fetal Heart	heart
26	chr10:49912400-49912600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
27	chr10:49912400-49913000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:49912400-49914000	Enhancers	Rectal Mucosa Donor 29	rectum

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