Variant report

Variant	rs12320284
Chromosome Location	chr12:49822927-49822928
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49758664..49761238-chr12:49820859..49823092,2	K562	blood:
2	chr12:49760202..49762803-chr12:49821694..49823885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10160947	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10161131	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10506284	1.00[ASN][1000 genomes]
rs10783314	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10875955	0.83[AMR][1000 genomes]
rs11168988	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169005	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11169008	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11169009	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11169014	0.81[EUR][1000 genomes]
rs11169015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169016	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169043	0.82[EUR][1000 genomes]
rs11169045	0.81[EUR][1000 genomes]
rs11169048	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11169049	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169058	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169059	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11611743	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834161	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs12296440	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12299282	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301632	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302036	0.83[ASN][1000 genomes]
rs12306118	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315996	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12322319	1.00[ASN][1000 genomes]
rs2272478	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28450055	1.00[ASN][1000 genomes]
rs57108124	1.00[ASN][1000 genomes]
rs57601151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58095611	0.81[EUR][1000 genomes]
rs59250459	1.00[ASN][1000 genomes]
rs60808917	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61340540	1.00[ASN][1000 genomes]
rs6580707	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580709	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580710	1.00[ASN][1000 genomes]
rs6580711	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580715	0.81[EUR][1000 genomes]
rs6580716	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs7132684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133398	0.85[CEU][hapmap]
rs7139061	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294648	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7294973	0.85[CEU][hapmap]
rs7295162	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs7295556	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs7309997	0.83[ASN][1000 genomes]
rs73295291	1.00[ASN][1000 genomes]
rs73295300	1.00[ASN][1000 genomes]
rs73297209	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73297210	1.00[ASN][1000 genomes]
rs73297243	1.00[ASN][1000 genomes]
rs7342365	1.00[ASN][1000 genomes]
rs74089066	1.00[ASN][1000 genomes]
rs7488923	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7955541	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961032	0.83[ASN][1000 genomes]
rs7962951	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969010	0.92[CEU][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969099	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970059	0.84[EUR][1000 genomes]
rs7974420	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs7976165	0.85[CEU][hapmap]
rs7980731	0.93[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49764200-49840200	Weak transcription	Fetal Lung	lung
2	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
3	chr12:49798600-49840000	Weak transcription	Hela-S3	cervix
4	chr12:49810800-49831400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:49812600-49829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:49816000-49848800	Weak transcription	Fetal Kidney	kidney
8	chr12:49816200-49833000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:49816600-49826400	Weak transcription	Small Intestine	intestine
10	chr12:49817400-49827800	Weak transcription	Fetal Brain Female	brain
11	chr12:49817600-49832400	Weak transcription	HepG2	liver
12	chr12:49819600-49828600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:49820000-49825200	Weak transcription	Fetal Stomach	stomach
14	chr12:49820000-49828400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:49820200-49828600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:49820400-49825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:49820400-49826400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:49820400-49854400	Weak transcription	Dnd41	blood
19	chr12:49821800-49823000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:49822000-49823000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:49822000-49823000	Enhancers	A549	lung
22	chr12:49822000-49823000	Flanking Active TSS	GM12878-XiMat	blood
23	chr12:49822000-49823400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:49822200-49823000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:49822200-49823000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:49822200-49823000	Enhancers	NH-A	brain
27	chr12:49822200-49823200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:49822200-49823200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:49822200-49823400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:49822200-49823400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:49822200-49823600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:49822400-49823000	Enhancers	Primary B cells from cord blood	blood
33	chr12:49822400-49823000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:49822400-49823000	Enhancers	NHDF-Ad	bronchial
35	chr12:49822400-49823200	Enhancers	NHEK	skin
36	chr12:49822400-49823400	Enhancers	HSMMtube	muscle
37	chr12:49822600-49823000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:49822600-49823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:49822600-49823000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:49822600-49823000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:49822600-49823000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:49822600-49823000	Enhancers	HMEC	breast
43	chr12:49822600-49823000	Enhancers	HUVEC	blood vessel
44	chr12:49822600-49823000	Enhancers	K562	blood
45	chr12:49822600-49823000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:49822600-49823400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:49822600-49823400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:49822600-49823400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:49822600-49823400	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:49822600-49823400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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