Variant report

Variant	rs1271127
Chromosome Location	chr12:31689261-31689262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1038066	1.00[JPT][hapmap]
rs10843946	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11051457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1150944	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150947	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150951	1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150952	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150956	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150957	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150958	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1150959	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150960	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1150961	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12299050	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12302576	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12305954	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12310541	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1259215	1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1259237	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1259240	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1259357	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259358	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259387	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259388	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259390	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259391	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259397	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1259402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1259403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259406	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259407	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259408	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259412	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259416	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259421	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259424	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs1259429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1259440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1262389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1262391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1262392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1267631	1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1267686	1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1267688	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1267689	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1270211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1271657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1271661	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1271662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1273260	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1677155	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1677156	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1677182	1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1677188	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1677190	1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1716193	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1716213	0.83[AFR][1000 genomes]
rs1798769	0.80[AMR][1000 genomes]
rs1798782	0.80[AMR][1000 genomes]
rs1864912	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2568880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568896	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2604050	0.85[AFR][1000 genomes]
rs2617179	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2617186	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs2617187	0.84[AFR][1000 genomes]
rs2617189	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2617192	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2617194	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2617210	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2679488	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679493	1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2679501	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2679502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2682461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2682678	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2682681	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2682682	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2682683	1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2682684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2682690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2682702	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2947175	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4931491	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61663978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67985192	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs708198	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs708199	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs708201	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs708207	1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs708211	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs708218	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs708220	1.00[JPT][hapmap]
rs7300482	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7302238	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7302818	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs792874	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs793147	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs793152	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs793159	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs793164	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs793172	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs793178	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs793181	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs793183	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs793187	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs793188	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs796963	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs811088	1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs971294	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs973510	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31679000-31691400	Weak transcription	Fetal Intestine Large	intestine
2	chr12:31679800-31692000	Weak transcription	GM12878-XiMat	blood
3	chr12:31681200-31691000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:31681200-31691600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:31684800-31690600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:31685400-31691000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:31685400-31691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:31685400-31700600	Weak transcription	Aorta	Aorta
9	chr12:31685400-31708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:31685600-31690000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:31686800-31689400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:31686800-31689400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:31686800-31689600	Weak transcription	Liver	Liver
14	chr12:31686800-31689800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:31686800-31690400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:31686800-31693200	Weak transcription	Fetal Intestine Small	intestine
17	chr12:31686800-31695600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:31687000-31689600	Weak transcription	HepG2	liver
19	chr12:31687000-31691200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:31687000-31691400	Weak transcription	Brain Anterior Caudate	brain
21	chr12:31688200-31690400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:31688400-31690000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:31688600-31692600	Weak transcription	Fetal Heart	heart
24	chr12:31688800-31690200	Enhancers	Adipose Nuclei	Adipose
25	chr12:31689000-31689800	Enhancers	Hela-S3	cervix
26	chr12:31689000-31690000	Enhancers	Colon Smooth Muscle	Colon
27	chr12:31689000-31690200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:31689000-31691000	Weak transcription	Primary B cells from cord blood	blood
29	chr12:31689000-31692000	Weak transcription	A549	lung
30	chr12:31689000-31713000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:31689200-31689400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:31689200-31692800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:31689200-31694000	Weak transcription	Psoas Muscle	Psoas
34	chr12:31689200-31695800	Weak transcription	Ovary	ovary

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