Variant report

Variant	rs793161
Chromosome Location	chr12:31549334-31549335
allele	A/G
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:64)

rs_ID	r²[population]
rs1012154	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs1150942	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1150943	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1150945	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1150953	0.90[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap]
rs1150954	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1150955	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes]
rs1150963	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1259233	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1259235	0.91[CEU][hapmap];0.85[CHB][hapmap]
rs1259241	0.90[AMR][1000 genomes]
rs1259353	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1259354	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1259356	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1259359	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs1259386	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1259405	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs1259409	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs1259430	0.85[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs1259435	0.90[AMR][1000 genomes]
rs1259437	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes]
rs1259438	0.93[AMR][1000 genomes]
rs1259441	0.93[AMR][1000 genomes]
rs1262390	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1272773	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes]
rs1677186	0.81[AMR][1000 genomes]
rs1677189	0.82[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs1716216	0.90[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs2061761	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs2374190	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2568884	0.85[CHB][hapmap]
rs2568885	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2568887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2568888	0.85[AFR][1000 genomes]
rs2568894	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2568902	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617178	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2617191	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs2617200	0.91[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap]
rs2682671	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2682677	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2682679	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2682695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2682697	0.92[CHB][hapmap]
rs35906870	0.87[ASN][1000 genomes]
rs708200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs708212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs708215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708217	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];1.00[ASN][1000 genomes]
rs792871	0.90[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs792875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs793149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs793150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs793158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs793171	0.91[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs793173	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs793174	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs793176	0.84[CHB][hapmap];0.81[AFR][1000 genomes]
rs793177	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs793186	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs793191	0.90[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs899159	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs976874	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31535600-31560600	Weak transcription	Osteobl	bone
2	chr12:31536000-31550600	Weak transcription	Right Ventricle	heart
3	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
5	chr12:31537200-31555600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
7	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
9	chr12:31538000-31549800	Strong transcription	A549	lung
10	chr12:31538000-31555600	Strong transcription	Liver	Liver
11	chr12:31538400-31555000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:31538600-31551600	Strong transcription	Fetal Intestine Small	intestine
13	chr12:31538600-31563400	Weak transcription	Colonic Mucosa	Colon
14	chr12:31539000-31552600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:31539600-31555800	Weak transcription	NH-A	brain
16	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
17	chr12:31540000-31549400	Weak transcription	Brain Angular Gyrus	brain
18	chr12:31540400-31565200	Weak transcription	HUVEC	blood vessel
19	chr12:31540600-31549400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:31540800-31555800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:31540800-31563400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:31540800-31565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:31540800-31572200	Weak transcription	Lung	lung
24	chr12:31540800-31573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:31540800-31576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:31541000-31555800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:31542000-31578400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:31542200-31554000	Weak transcription	Aorta	Aorta
29	chr12:31542200-31566000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
31	chr12:31542400-31550600	Weak transcription	HSMMtube	muscle
32	chr12:31542400-31551200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:31542400-31564600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:31542400-31565400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:31542400-31571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:31542600-31553200	Weak transcription	HepG2	liver
38	chr12:31542600-31555800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:31542800-31575400	Weak transcription	Fetal Brain Male	brain
41	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:31543000-31551200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:31544200-31555800	Weak transcription	HSMM	muscle
44	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:31544400-31549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:31544400-31552400	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:31544600-31549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:31544600-31550600	Weak transcription	Adipose Nuclei	Adipose
50	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links