Variant report

Variant	rs11614947
Chromosome Location	chr12:117371817-117371818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117371490..117373713-chr12:117436920..117439603,2	K562	blood:
2	chr12:117364974..117366703-chr12:117369746..117372327,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10507276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10850736	0.85[EUR][1000 genomes]
rs11608609	0.85[EUR][1000 genomes]
rs11608681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11609741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11609917	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11610984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615600	0.82[JPT][hapmap]
rs12819203	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs17501253	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs2062529	0.85[JPT][hapmap]
rs3741465	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6490100	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7301877	0.89[EUR][1000 genomes]
rs7976384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978495	0.86[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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
2	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
3	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
4	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:117363400-117373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:117363400-117375200	Weak transcription	HMEC	breast
7	chr12:117363400-117381000	Weak transcription	NHEK	skin
8	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
10	chr12:117363600-117375000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:117363800-117374000	Weak transcription	Thymus	Thymus
12	chr12:117364000-117372000	Strong transcription	Primary B cells from cord blood	blood
13	chr12:117364200-117372600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:117364800-117372800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:117364800-117374000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:117365600-117372000	Weak transcription	Right Atrium	heart
20	chr12:117365800-117381200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:117366000-117375600	Strong transcription	Primary T cells from cord blood	blood
23	chr12:117366200-117377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:117366600-117373000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:117366600-117373400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:117366600-117374000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:117366600-117374000	Weak transcription	NHDF-Ad	bronchial
28	chr12:117366600-117381000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:117366600-117381200	Weak transcription	Liver	Liver
30	chr12:117366600-117381400	Weak transcription	Aorta	Aorta
31	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:117366600-117388400	Weak transcription	K562	blood
33	chr12:117367000-117372000	Weak transcription	Pancreas	Pancrea
34	chr12:117367000-117373600	Weak transcription	Fetal Intestine Small	intestine
35	chr12:117367000-117373800	Weak transcription	Gastric	stomach
36	chr12:117367000-117374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:117367000-117380000	Weak transcription	Fetal Thymus	thymus
38	chr12:117367200-117372600	Weak transcription	Left Ventricle	heart
39	chr12:117367200-117373800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:117367200-117373800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:117367200-117373800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:117367200-117374000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:117367200-117374000	Weak transcription	Lung	lung
44	chr12:117367200-117374000	Weak transcription	NHLF	lung
45	chr12:117367200-117379200	Weak transcription	Spleen	Spleen
46	chr12:117367800-117372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:117367800-117382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:117368000-117372200	Weak transcription	Osteobl	bone
49	chr12:117368000-117372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:117368000-117372600	Weak transcription	Dnd41	blood

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