Variant report

Variant	rs11694633
Chromosome Location	chr2:30497978-30497979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30495466..30498071-chr2:30668334..30670914,2	MCF-7	breast:
2	chr2:30490451..30492862-chr2:30496665..30498912,2	K562	blood:
3	chr2:30492609..30498339-chr2:30504357..30508206,5	K562	blood:
4	chr2:30497560..30499360-chr2:30505202..30507346,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10206415	1.00[CHB][hapmap]
rs11677980	1.00[ASN][1000 genomes]
rs11678328	1.00[ASN][1000 genomes]
rs11681599	1.00[CHB][hapmap]
rs11684717	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11690407	1.00[ASN][1000 genomes]
rs12476050	1.00[CHB][hapmap]
rs13007792	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022372	1.00[ASN][1000 genomes]
rs17736058	1.00[CHB][hapmap]
rs17792620	1.00[CHB][hapmap]
rs4951987	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4952117	0.80[EUR][1000 genomes]
rs6708166	1.00[CHB][hapmap]
rs6755863	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71444455	1.00[ASN][1000 genomes]
rs71444456	1.00[ASN][1000 genomes]
rs72789617	1.00[ASN][1000 genomes]
rs906864	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30488800-30498400	Enhancers	Fetal Heart	heart
3	chr2:30491600-30499200	Weak transcription	GM12878-XiMat	blood
4	chr2:30491800-30501600	Weak transcription	Primary T cells from cord blood	blood
5	chr2:30491800-30501800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:30492600-30501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:30493400-30506800	Weak transcription	Right Ventricle	heart
8	chr2:30494600-30499000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:30494600-30499400	Weak transcription	Fetal Thymus	thymus
10	chr2:30494600-30507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:30494800-30505800	Weak transcription	K562	blood
12	chr2:30495200-30498200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:30495400-30498400	Enhancers	HSMM	muscle
14	chr2:30495400-30498400	Enhancers	NHLF	lung
15	chr2:30495400-30499800	Enhancers	Fetal Intestine Large	intestine
16	chr2:30495400-30499800	Enhancers	Fetal Intestine Small	intestine
17	chr2:30495600-30498400	Enhancers	HUVEC	blood vessel
18	chr2:30495600-30498400	Enhancers	NHDF-Ad	bronchial
19	chr2:30495600-30498600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:30495800-30498000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:30495800-30498000	Enhancers	Fetal Stomach	stomach
22	chr2:30495800-30498200	Weak transcription	Primary B cells from cord blood	blood
23	chr2:30495800-30498400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:30495800-30498400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:30495800-30498400	Enhancers	Stomach Mucosa	stomach
26	chr2:30495800-30498600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:30495800-30499600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:30495800-30499600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:30496000-30499400	Weak transcription	Pancreas	Pancrea
30	chr2:30496200-30498600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:30496400-30509800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:30496600-30498600	Enhancers	HSMMtube	muscle
33	chr2:30496600-30499200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:30496600-30499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:30496600-30499400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:30496600-30499400	Weak transcription	Aorta	Aorta
37	chr2:30496600-30501600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
39	chr2:30496800-30498400	Enhancers	Hela-S3	cervix
40	chr2:30496800-30506800	Weak transcription	Left Ventricle	heart
41	chr2:30497200-30498200	Enhancers	Fetal Lung	lung
42	chr2:30497200-30498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:30497200-30500000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:30497400-30498000	Enhancers	Colonic Mucosa	Colon
45	chr2:30497400-30498000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:30497400-30498200	Enhancers	HepG2	liver
47	chr2:30497400-30498400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr2:30497400-30498400	Flanking Active TSS	A549	lung
49	chr2:30497400-30498400	Flanking Active TSS	HMEC	breast
50	chr2:30497600-30498000	Enhancers	NHEK	skin

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