Variant report

Variant	rs11524
Chromosome Location	chr2:11966317-11966318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11965600..11967514-chr2:11971036..11973517,2	K562	blood:
2	chr2:11962166..11964623-chr2:11965251..11967244,2	MCF-7	breast:
3	chr2:11964399..11966822-chr2:11968206..11970733,4	K562	blood:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10495584	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs1370547	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs2716609	0.84[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.93[MEX][hapmap]
rs2716610	0.83[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap]
rs2716611	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56658728	0.94[EUR][1000 genomes]
rs60665865	0.95[ASN][1000 genomes]
rs73191082	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:11925200-11968600	Strong transcription	NHLF	lung
6	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:11946200-11969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:11950200-11967200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:11950200-11968400	Strong transcription	Primary hematopoietic stem cells	blood
12	chr2:11951600-11968600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:11956200-11969400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:11956600-11968400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:11956600-11969400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:11956600-11969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:11958200-11969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:11959200-11967200	Strong transcription	HUVEC	blood vessel
19	chr2:11959200-11967400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:11959200-11968200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:11959200-11968400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:11959200-11968800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:11959400-11967200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:11959400-11967200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:11959400-11967600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:11959400-11968000	Strong transcription	Adipose Nuclei	Adipose
27	chr2:11959400-11968000	Strong transcription	Brain Anterior Caudate	brain
28	chr2:11959600-11967400	Strong transcription	Lung	lung
29	chr2:11959600-11968600	Strong transcription	Primary T cells from cord blood	blood
30	chr2:11959600-11968600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:11960000-11967600	Strong transcription	Liver	Liver
32	chr2:11960000-11968600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:11960400-11969400	Weak transcription	Aorta	Aorta
34	chr2:11960400-11969800	Weak transcription	Psoas Muscle	Psoas
35	chr2:11960800-11968600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:11960800-11969200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:11960800-11969200	Weak transcription	NH-A	brain
38	chr2:11960800-11969600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:11961200-11967200	Strong transcription	Thymus	Thymus
40	chr2:11961200-11969000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:11961400-11969200	Weak transcription	Fetal Brain Male	brain
42	chr2:11961400-11969400	Weak transcription	Fetal Kidney	kidney
43	chr2:11962000-11969200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:11962200-11969600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:11962400-11969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:11963000-11967200	Strong transcription	Fetal Intestine Small	intestine
47	chr2:11963400-11968000	Weak transcription	Fetal Thymus	thymus
48	chr2:11963400-11968600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:11963400-11969400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:11963600-11967400	Strong transcription	NHDF-Ad	bronchial

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