Variant report

Variant	rs10850734
Chromosome Location	chr12:117385035-117385036
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117384024..117385524-chr12:117385938..117388865,2	K562	blood:
2	chr12:117383644..117386038-chr12:117390452..117392333,2	K562	blood:
3	chr12:117375784..117377782-chr12:117384873..117386508,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10735100	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10735101	0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774895	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10774898	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10850730	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10850742	0.90[EUR][1000 genomes]
rs10850747	0.83[JPT][hapmap]
rs10850751	0.88[JPT][hapmap]
rs11068276	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068292	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11834817	0.89[JPT][hapmap]
rs1472523	0.89[JPT][hapmap]
rs2062528	0.95[JPT][hapmap]
rs2173654	0.94[JPT][hapmap]
rs2291916	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs2393113	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4766816	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4766823	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767477	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767486	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6490103	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6490106	0.84[JPT][hapmap]
rs7133090	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297303	0.88[JPT][hapmap]
rs7302127	0.88[CEU][hapmap]
rs7486428	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7487081	0.83[CEU][hapmap]
rs7958680	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7962875	0.89[EUR][1000 genomes]
rs7964668	0.88[JPT][hapmap]
rs9634171	0.94[JPT][hapmap]

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
2	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117366600-117388400	Weak transcription	K562	blood
5	chr12:117373800-117393200	Weak transcription	Stomach Mucosa	stomach
6	chr12:117374400-117385600	Weak transcription	NHDF-Ad	bronchial
7	chr12:117378000-117392600	Weak transcription	Psoas Muscle	Psoas
8	chr12:117381000-117385400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:117381200-117385200	Strong transcription	HSMM	muscle
10	chr12:117381200-117390200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:117381200-117391200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:117381400-117386000	Strong transcription	Aorta	Aorta
13	chr12:117381400-117387800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:117381400-117389600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:117381600-117386200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr12:117381600-117387200	Weak transcription	Fetal Brain Female	brain
17	chr12:117381600-117388000	Strong transcription	Fetal Intestine Large	intestine
18	chr12:117381600-117388600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:117381600-117390200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:117381600-117390400	Strong transcription	Primary T cells from cord blood	blood
21	chr12:117381600-117390800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:117381800-117386200	Strong transcription	A549	lung
23	chr12:117381800-117387200	Weak transcription	HMEC	breast
24	chr12:117381800-117387800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:117381800-117387800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:117381800-117389200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:117381800-117390000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:117381800-117390200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:117381800-117390400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:117381800-117391400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:117381800-117396200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:117382000-117387600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:117382000-117388000	Strong transcription	Osteobl	bone
34	chr12:117382000-117388400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:117382000-117388600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr12:117382000-117391400	Strong transcription	Fetal Stomach	stomach
37	chr12:117382000-117396400	Weak transcription	GM12878-XiMat	blood
38	chr12:117382200-117386000	Strong transcription	HepG2	liver
39	chr12:117382200-117387800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:117382400-117385200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:117382400-117387800	Strong transcription	Fetal Intestine Small	intestine
42	chr12:117382400-117389400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:117382400-117390400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:117382400-117390600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:117382600-117386000	Strong transcription	Primary B cells from cord blood	blood
46	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:117382800-117385200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:117382800-117385200	Strong transcription	Dnd41	blood
49	chr12:117382800-117385600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:117382800-117386200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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