Variant report

Variant	rs12129650
Chromosome Location	chr1:186026474-186026475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186024910..186027284-chr1:186045242..186047451,2	K562	blood:
2	chr1:186024136..186026677-chr1:186048146..186050560,2	K562	blood:
3	chr1:186008003..186010920-chr1:186026455..186028338,2	K562	blood:
4	chr1:186025400..186028423-chr1:186029956..186032798,3	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10158272	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10737266	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10752958	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10752959	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798028	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798030	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10798031	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798032	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10798033	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798034	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798035	0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs10911799	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911805	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911806	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911807	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911808	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911810	0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs10911812	0.81[CHD][hapmap]
rs10911813	0.81[CHD][hapmap]
rs10911819	0.81[CHB][hapmap]
rs10911820	0.81[JPT][hapmap]
rs12091407	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12144523	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12566113	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1540925	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1555495	0.82[JPT][hapmap]
rs1569989	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs2024901	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2038601	0.81[JPT][hapmap]
rs2070282	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2208084	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2208085	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2224276	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2224277	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2383431	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2891228	0.82[JPT][hapmap]
rs3795406	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4141459	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233125	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs4626827	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4650689	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4650690	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4650691	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4650692	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4650693	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4651290	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4651291	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4651292	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4651293	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651297	0.82[JPT][hapmap]
rs4651298	0.81[CHD][hapmap]
rs6425012	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6425013	0.95[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6425014	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425015	0.81[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs6425016	0.81[JPT][hapmap]
rs6425017	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs6658592	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6658929	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6659819	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6665753	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6679262	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6684429	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6688811	0.84[CEU][hapmap]
rs6698240	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs716755	0.82[CHB][hapmap]
rs743136	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs743137	0.96[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs743138	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7512909	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7520459	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7522627	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7535056	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7541013	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7544709	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7550425	0.81[CHD][hapmap]
rs7556344	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap]
rs761903	0.81[ASN][1000 genomes]
rs761904	0.82[JPT][hapmap]
rs970578	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs980947	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186007400-186048000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:186009400-186078000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:186012000-186048200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:186013000-186026600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:186013600-186068400	Weak transcription	Fetal Kidney	kidney
6	chr1:186016200-186041800	Weak transcription	Aorta	Aorta
7	chr1:186016400-186038600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:186020000-186028000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:186020000-186028200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:186020000-186062600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:186023400-186028000	Weak transcription	Fetal Lung	lung
12	chr1:186023600-186028400	Weak transcription	K562	blood
13	chr1:186024600-186026600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:186024800-186038800	Weak transcription	Adipose Nuclei	Adipose
15	chr1:186024800-186051400	Weak transcription	Left Ventricle	heart
16	chr1:186026400-186029600	Enhancers	Liver	Liver

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