Variant report

Variant	rs12026445
Chromosome Location	chr1:161714087-161714088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161454426..161456566-chr1:161713079..161714955,2	K562	blood:
2	chr1:161713367..161715023-chr1:161717731..161720555,2	MCF-7	breast:
3	chr1:161708205..161716175-chr1:161716206..161720292,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1027701	0.94[CHB][hapmap]
rs1027702	0.88[CHB][hapmap]
rs10494358	0.88[AMR][1000 genomes]
rs10799979	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs10917946	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs10917955	0.89[AMR][1000 genomes]
rs10918004	0.89[AMR][1000 genomes]
rs1135983	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12025039	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12025560	0.89[AMR][1000 genomes]
rs12028953	0.89[AMR][1000 genomes]
rs12029726	0.89[AMR][1000 genomes]
rs12031400	0.86[AMR][1000 genomes]
rs12032355	0.89[AMR][1000 genomes]
rs12034541	0.82[AMR][1000 genomes]
rs12036441	0.89[AMR][1000 genomes]
rs12036538	0.82[AMR][1000 genomes]
rs12037266	0.81[AMR][1000 genomes]
rs12037837	0.82[AMR][1000 genomes]
rs12040523	0.89[AMR][1000 genomes]
rs12040648	0.89[AMR][1000 genomes]
rs12044164	0.82[AMR][1000 genomes]
rs12044770	0.89[AMR][1000 genomes]
rs12045431	0.82[AMR][1000 genomes]
rs12046853	0.82[AMR][1000 genomes]
rs12047724	0.82[AMR][1000 genomes]
rs12121522	0.88[CHB][hapmap]
rs12402354	0.88[AMR][1000 genomes]
rs12403862	0.89[AMR][1000 genomes]
rs12404636	0.85[AMR][1000 genomes]
rs12405111	1.00[CEU][hapmap]
rs12407741	0.82[AMR][1000 genomes]
rs12409812	0.82[AMR][1000 genomes]
rs12564653	1.00[YRI][hapmap]
rs1340981	0.88[CHB][hapmap]
rs1394067	0.82[AMR][1000 genomes]
rs1394068	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs1394069	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs1417580	0.88[CHB][hapmap]
rs1417581	0.88[CHB][hapmap]
rs1553443	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs16844014	0.82[AMR][1000 genomes]
rs16847590	0.82[AMR][1000 genomes]
rs16863838	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs1910480	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs2036494	0.82[AMR][1000 genomes]
rs2066247	0.88[CHB][hapmap]
rs2070150	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs2070151	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs2089085	0.81[AMR][1000 genomes]
rs2271012	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs2271013	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs2340823	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs2340824	0.81[AMR][1000 genomes]
rs2341477	0.89[AMR][1000 genomes]
rs2879841	0.82[AMR][1000 genomes]
rs2879842	0.88[AMR][1000 genomes]
rs3738326	0.82[AMR][1000 genomes]
rs3820489	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs4106114	0.82[AMR][1000 genomes]
rs4147178	0.82[AMR][1000 genomes]
rs4494120	0.80[AMR][1000 genomes]
rs4656333	0.82[AMR][1000 genomes]
rs4656334	0.81[AMR][1000 genomes]
rs4657096	0.88[CHB][hapmap]
rs4657099	0.90[AMR][1000 genomes]
rs4657102	0.81[AMR][1000 genomes]
rs4657104	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs4657116	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs4657117	0.89[AMR][1000 genomes]
rs4657118	0.89[AMR][1000 genomes]
rs4657120	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs56085642	0.86[AMR][1000 genomes]
rs56310275	0.89[AMR][1000 genomes]
rs56371448	0.90[AMR][1000 genomes]
rs59021559	0.82[AMR][1000 genomes]
rs60035080	0.89[AMR][1000 genomes]
rs6427624	0.88[CHB][hapmap]
rs6427625	0.88[CHB][hapmap]
rs6427626	0.88[CHB][hapmap]
rs6427630	0.82[AMR][1000 genomes]
rs6427634	0.89[AMR][1000 genomes]
rs6669440	0.82[AMR][1000 genomes]
rs6674081	0.81[AMR][1000 genomes]
rs6680543	0.81[AMR][1000 genomes]
rs6687850	0.89[AMR][1000 genomes]
rs6695284	0.89[AMR][1000 genomes]
rs7523416	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs7530997	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs7532457	0.89[AMR][1000 genomes]
rs7535349	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs7540096	0.88[CHB][hapmap]
rs7545293	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs955852	0.89[AMR][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1005615	chr1:161707312-161714444	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161706800-161718800	Weak transcription	NH-A	brain
2	chr1:161707600-161719200	Weak transcription	NHLF	lung
3	chr1:161711200-161714200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:161711400-161718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:161711600-161717600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:161711600-161718600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:161713000-161714200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:161713000-161714600	Enhancers	GM12878-XiMat	blood
9	chr1:161713000-161715400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:161713200-161714400	Enhancers	NHDF-Ad	bronchial
11	chr1:161713200-161715400	Enhancers	K562	blood
12	chr1:161713600-161714200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:161713600-161714400	Enhancers	Osteobl	bone
14	chr1:161713600-161714600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:161713800-161714200	Enhancers	HUVEC	blood vessel
16	chr1:161713800-161714600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:161714000-161714200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:161714000-161718200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:161714000-161718800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:161714000-161718800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:161714000-161718800	Weak transcription	HMEC	breast
22	chr1:161714000-161719000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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