Variant report

Variant	rs12371883
Chromosome Location	chr12:30818936-30818937
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	chr12:30814175..30817421-chr12:30818477..30821058,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10743725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843794	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11051009	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051026	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051044	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11610452	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12306961	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12308822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310942	0.94[ASN][1000 genomes]
rs12315407	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12315446	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12372023	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099028	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3888018	0.82[AMR][1000 genomes]
rs3906774	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56003450	0.85[ASN][1000 genomes]
rs56705455	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57153590	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59483134	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6487924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487929	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487931	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302606	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7302757	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303665	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306125	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307432	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308638	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7310127	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7315859	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73292874	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74083892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7955626	0.87[AMR][1000 genomes]
rs7963438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7963524	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968669	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7972061	0.87[AMR][1000 genomes]
rs7974251	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9651844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
6	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
8	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
9	chr12:30785000-30847800	Weak transcription	Gastric	stomach
10	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
11	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
13	chr12:30787200-30821200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:30788000-30821000	Weak transcription	Stomach Mucosa	stomach
15	chr12:30791200-30825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:30793600-30825200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:30807800-30835200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:30808000-30837800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:30808400-30829800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:30808600-30820200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:30808600-30830400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:30808600-30839200	Strong transcription	Liver	Liver
23	chr12:30808800-30835000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:30808800-30838000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:30809200-30828800	Weak transcription	Pancreas	Pancrea
26	chr12:30809400-30820800	Weak transcription	Lung	lung
27	chr12:30810000-30838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:30810400-30821200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:30810800-30843200	Strong transcription	Dnd41	blood
30	chr12:30810800-30843800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:30811000-30844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:30811200-30830200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:30811400-30821000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:30812200-30819000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:30812200-30819000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:30812200-30819200	Strong transcription	A549	lung
37	chr12:30812200-30819800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:30812200-30822400	Strong transcription	Adipose Nuclei	Adipose
39	chr12:30812200-30832200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:30812200-30837400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:30812600-30819600	Weak transcription	Aorta	Aorta
42	chr12:30812600-30830200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:30812600-30844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:30813000-30819200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:30813000-30839400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr12:30813200-30819400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:30813200-30819800	Strong transcription	Osteobl	bone
48	chr12:30813200-30820200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:30813200-30822200	Weak transcription	Fetal Intestine Small	intestine
50	chr12:30813200-30822200	Strong transcription	HSMM	muscle

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