Variant report

Variant	rs728590
Chromosome Location	chr12:45694348-45694349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45693359..45695379-chr12:45698618..45700511,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1015626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10437984	0.84[AMR][1000 genomes]
rs10459295	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs10748412	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs10785557	0.81[AMR][1000 genomes]
rs10785561	0.93[AFR][1000 genomes]
rs10785566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880761	0.86[JPT][hapmap]
rs10880762	0.83[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs10880764	0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10880765	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs10880766	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs10880768	0.89[EUR][1000 genomes]
rs10880771	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182905	0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes]
rs11182918	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs11182938	0.81[AMR][1000 genomes]
rs11182939	0.84[AMR][1000 genomes]
rs11182949	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11182954	0.82[CEU][hapmap]
rs11182955	0.82[CEU][hapmap]
rs11182957	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs11182961	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs11182965	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs11182966	0.89[EUR][1000 genomes]
rs11182969	0.89[EUR][1000 genomes]
rs11182970	0.89[EUR][1000 genomes]
rs11182973	0.84[EUR][1000 genomes]
rs11182974	0.84[EUR][1000 genomes]
rs11182981	0.82[CEU][hapmap]
rs11614082	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11614089	0.89[EUR][1000 genomes]
rs12228399	0.89[EUR][1000 genomes]
rs12230322	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs12231753	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs12320168	0.86[JPT][hapmap]
rs12815577	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1399721	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1913690	0.94[ASN][1000 genomes]
rs1913692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012937	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2052603	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2408184	0.86[JPT][hapmap]
rs34759896	0.89[EUR][1000 genomes]
rs35032811	0.89[EUR][1000 genomes]
rs35400022	0.84[EUR][1000 genomes]
rs35660715	0.81[AMR][1000 genomes]
rs3759080	0.81[AMR][1000 genomes]
rs4326862	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768085	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs4768598	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768601	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768603	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582541	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304481	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7307262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309615	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310046	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7487910	0.88[ASN][1000 genomes]
rs7963038	0.81[AMR][1000 genomes]
rs7963057	0.84[AMR][1000 genomes]
rs7965430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:45668400-45697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:45675800-45709000	Weak transcription	Lung	lung
7	chr12:45676400-45696000	Weak transcription	Fetal Thymus	thymus
8	chr12:45676400-45697800	Weak transcription	Dnd41	blood
9	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:45677000-45696000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:45677600-45698200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:45677800-45696000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:45680400-45697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:45681000-45698200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:45681200-45697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:45683600-45709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
19	chr12:45685800-45697800	Weak transcription	GM12878-XiMat	blood
20	chr12:45685800-45698200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:45686200-45707000	Weak transcription	Primary B cells from cord blood	blood
22	chr12:45687000-45697200	Weak transcription	Aorta	Aorta
23	chr12:45690600-45695000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:45690600-45697800	Weak transcription	Liver	Liver
25	chr12:45691000-45708600	Weak transcription	Stomach Mucosa	stomach
26	chr12:45691000-45708800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:45691800-45694400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:45692400-45709000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:45692400-45721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:45692800-45707000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:45693000-45694400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:45693000-45697000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:45693000-45707400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:45693200-45696600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:45693200-45696800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:45693200-45697400	Weak transcription	Psoas Muscle	Psoas
38	chr12:45693200-45697800	Weak transcription	Fetal Brain Male	brain
39	chr12:45693200-45697800	Weak transcription	Fetal Intestine Large	intestine
40	chr12:45693200-45703600	Weak transcription	HSMM	muscle
41	chr12:45693200-45708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
43	chr12:45693400-45695600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:45693400-45696600	Weak transcription	HSMMtube	muscle
45	chr12:45693400-45696800	Weak transcription	A549	lung
46	chr12:45693400-45697400	Weak transcription	Fetal Lung	lung
47	chr12:45693400-45698000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:45693400-45698000	Weak transcription	Fetal Stomach	stomach
49	chr12:45693400-45702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:45693600-45695600	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links