Variant report

Variant	rs12505967
Chromosome Location	chr4:151605334-151605335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10000193	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006912	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10013523	0.99[ASN][1000 genomes]
rs10018648	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10027710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028965	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034695	0.98[ASN][1000 genomes]
rs10520078	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857249	0.99[ASN][1000 genomes]
rs10857251	0.97[ASN][1000 genomes]
rs11099775	0.95[ASN][1000 genomes]
rs11726025	0.80[ASN][1000 genomes]
rs11934912	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12640376	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105060	0.87[JPT][hapmap]
rs13112801	0.86[EUR][1000 genomes]
rs13119454	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13121304	0.99[ASN][1000 genomes]
rs13125957	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13128052	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13130300	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13145181	0.99[ASN][1000 genomes]
rs13145482	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451633	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1451635	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1470763	0.88[CEU][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947315	0.99[ASN][1000 genomes]
rs1993109	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198190	0.96[ASN][1000 genomes]
rs2407549	0.83[EUR][1000 genomes]
rs4235251	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4309819	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs4318628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4336207	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4455394	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501201	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696631	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696633	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6822633	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834834	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835367	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs6835970	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836854	0.84[ASN][1000 genomes]
rs6837840	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6838530	0.97[ASN][1000 genomes]
rs6841524	0.95[ASN][1000 genomes]
rs7665654	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7666190	0.98[ASN][1000 genomes]
rs7672144	0.95[ASN][1000 genomes]
rs7683591	0.94[ASN][1000 genomes]
rs7690485	0.99[ASN][1000 genomes]
rs7690977	0.86[EUR][1000 genomes]
rs7691797	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896405	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9307879	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9884181	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9884963	0.99[ASN][1000 genomes]
rs9996572	0.99[ASN][1000 genomes]
rs9997773	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830113	chr4:151538184-151691942	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1029861	chr4:151556384-151720601	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151577600-151637000	Weak transcription	Primary T cells from cord blood	blood
3	chr4:151582200-151642800	Weak transcription	Left Ventricle	heart
4	chr4:151591200-151607600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:151593200-151610800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:151595000-151654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:151596000-151605800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:151596000-151608600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:151599600-151605800	Weak transcription	Fetal Lung	lung
10	chr4:151599600-151611200	Weak transcription	K562	blood
11	chr4:151600000-151606000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:151600800-151606800	Weak transcription	Adipose Nuclei	Adipose
13	chr4:151601400-151606000	Weak transcription	Brain Angular Gyrus	brain
14	chr4:151601600-151644400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:151601800-151606000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:151602000-151606000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:151602000-151606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:151602000-151615800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:151602000-151617000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:151602200-151643800	Weak transcription	Fetal Intestine Small	intestine
21	chr4:151602400-151621800	Weak transcription	Fetal Intestine Large	intestine
22	chr4:151602800-151605400	Weak transcription	Fetal Thymus	thymus
23	chr4:151602800-151605400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:151603400-151605400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:151603600-151611600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:151604400-151605400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:151604400-151606200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:151604600-151605400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:151604600-151605600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr4:151604600-151606000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:151604600-151606000	Enhancers	NHEK	skin
32	chr4:151604600-151606200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:151604600-151606200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:151604600-151606200	Enhancers	HMEC	breast
35	chr4:151604800-151605600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:151604800-151644600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:151605000-151605600	Enhancers	Brain Cingulate Gyrus	brain
38	chr4:151605000-151605800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:151605000-151606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:151605000-151606200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:151605000-151606200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:151605000-151622800	Weak transcription	Primary B cells from cord blood	blood
43	chr4:151605200-151605600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:151605200-151606000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:151605200-151606200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:151605200-151606200	Enhancers	Brain Hippocampus Middle	brain
47	chr4:151605200-151606200	Enhancers	Brain Substantia Nigra	brain
48	chr4:151605200-151606400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:151605200-151608800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr4:151605200-151610400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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