Variant report

Variant	rs4347476
Chromosome Location	chr12:117384521-117384522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117384024..117385524-chr12:117385938..117388865,2	K562	blood:
2	chr12:117383644..117386038-chr12:117390452..117392333,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10507277	0.86[JPT][hapmap]
rs10732611	0.86[JPT][hapmap]
rs10735099	0.86[JPT][hapmap]
rs10744886	0.80[ASN][1000 genomes]
rs10774891	0.86[JPT][hapmap]
rs10774892	0.86[JPT][hapmap]
rs10774896	0.84[JPT][hapmap]
rs11068245	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068247	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068258	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068259	1.00[CEU][hapmap]
rs11068262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068280	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11068282	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068286	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068294	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11068296	0.84[JPT][hapmap]
rs11068310	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs12368874	1.00[CEU][hapmap]
rs12371218	1.00[CEU][hapmap]
rs17583145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17616662	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2133684	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2242469	0.93[JPT][hapmap]
rs2270792	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs2270793	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2291912	0.90[JPT][hapmap]
rs2393111	0.84[JPT][hapmap]
rs3782189	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs3782190	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs3803089	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893370	0.84[JPT][hapmap]
rs4074147	0.86[JPT][hapmap]
rs4076700	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs4077519	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4130296	0.81[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4299000	0.83[ASN][1000 genomes]
rs4522274	0.86[JPT][hapmap]
rs4542506	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs4562925	0.84[JPT][hapmap]
rs4766815	0.84[JPT][hapmap]
rs4766820	0.86[JPT][hapmap]
rs4766821	0.81[JPT][hapmap]
rs4767474	0.84[JPT][hapmap]
rs4767476	0.86[JPT][hapmap]
rs4767478	0.86[JPT][hapmap]
rs4767480	0.82[ASN][1000 genomes]
rs4767482	0.81[JPT][hapmap]
rs4767483	0.84[JPT][hapmap]
rs4767484	0.84[JPT][hapmap]
rs4767488	0.81[JPT][hapmap]
rs4767489	0.83[JPT][hapmap]
rs4767491	0.83[JPT][hapmap]
rs4767493	0.85[JPT][hapmap]
rs6490102	0.86[JPT][hapmap]
rs7131746	0.83[JPT][hapmap]
rs7136629	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137006	0.85[JPT][hapmap]
rs7137752	0.84[JPT][hapmap]
rs7297446	0.90[JPT][hapmap]
rs7303882	0.86[JPT][hapmap]
rs7308498	0.86[JPT][hapmap]
rs7311972	0.84[JPT][hapmap]
rs7316144	0.85[JPT][hapmap]
rs7487081	0.84[JPT][hapmap]
rs7959666	0.86[JPT][hapmap]
rs7973240	0.84[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:122 , 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	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
4	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:117366600-117388400	Weak transcription	K562	blood
6	chr12:117373800-117393200	Weak transcription	Stomach Mucosa	stomach
7	chr12:117374400-117385600	Weak transcription	NHDF-Ad	bronchial
8	chr12:117378000-117392600	Weak transcription	Psoas Muscle	Psoas
9	chr12:117381000-117385400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:117381200-117385200	Strong transcription	HSMM	muscle
11	chr12:117381200-117390200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:117381200-117391200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:117381400-117386000	Strong transcription	Aorta	Aorta
14	chr12:117381400-117387800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:117381400-117389600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr12:117381600-117384600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:117381600-117386200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:117381600-117387200	Weak transcription	Fetal Brain Female	brain
19	chr12:117381600-117388000	Strong transcription	Fetal Intestine Large	intestine
20	chr12:117381600-117388600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:117381600-117390200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:117381600-117390400	Strong transcription	Primary T cells from cord blood	blood
23	chr12:117381600-117390800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:117381800-117386200	Strong transcription	A549	lung
25	chr12:117381800-117387200	Weak transcription	HMEC	breast
26	chr12:117381800-117387800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:117381800-117387800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:117381800-117389200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:117381800-117390000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:117381800-117390200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:117381800-117390400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:117381800-117391400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:117381800-117396200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:117382000-117387600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:117382000-117388000	Strong transcription	Osteobl	bone
36	chr12:117382000-117388400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:117382000-117388600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:117382000-117391400	Strong transcription	Fetal Stomach	stomach
39	chr12:117382000-117396400	Weak transcription	GM12878-XiMat	blood
40	chr12:117382200-117386000	Strong transcription	HepG2	liver
41	chr12:117382200-117387800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:117382400-117385200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:117382400-117387800	Strong transcription	Fetal Intestine Small	intestine
44	chr12:117382400-117389400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:117382400-117390400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:117382400-117390600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:117382600-117386000	Strong transcription	Primary B cells from cord blood	blood
48	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:117382800-117385200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:117382800-117385200	Strong transcription	Dnd41	blood

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