Variant report

Variant	rs12086487
Chromosome Location	chr1:180623363-180623364
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180613241..180615930-chr1:180622558..180625291,2	K562	blood:
2	chr1:180554937..180556534-chr1:180622491..180625409,2	K562	blood:
3	chr1:180619033..180620740-chr1:180621904..180624430,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10914064	1.00[YRI][hapmap]
rs10914065	1.00[YRI][hapmap]
rs10914071	1.00[YRI][hapmap]
rs10914072	1.00[YRI][hapmap]
rs10914081	1.00[YRI][hapmap]
rs10914085	1.00[YRI][hapmap]
rs10914087	1.00[YRI][hapmap]
rs10914088	1.00[YRI][hapmap]
rs10914090	1.00[YRI][hapmap]
rs10914091	1.00[YRI][hapmap]
rs10914093	1.00[YRI][hapmap]
rs10914106	1.00[YRI][hapmap]
rs11484582	1.00[YRI][hapmap]
rs11484677	1.00[YRI][hapmap]
rs12058064	1.00[YRI][hapmap]
rs12058106	1.00[YRI][hapmap]
rs12059242	1.00[YRI][hapmap]
rs12059644	0.94[YRI][hapmap]
rs12059678	1.00[YRI][hapmap]
rs12059686	1.00[YRI][hapmap]
rs12063893	1.00[YRI][hapmap]
rs12066422	0.92[YRI][hapmap]
rs12067061	1.00[YRI][hapmap]
rs12067934	1.00[YRI][hapmap]
rs12068624	1.00[YRI][hapmap]
rs12068720	1.00[YRI][hapmap]
rs12069760	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070064	1.00[YRI][hapmap]
rs12070161	1.00[YRI][hapmap]
rs12070595	1.00[YRI][hapmap]
rs12071498	1.00[YRI][hapmap]
rs12073086	1.00[YRI][hapmap]
rs12073140	0.89[YRI][hapmap]
rs12075235	1.00[YRI][hapmap]
rs12075809	1.00[YRI][hapmap]
rs12076809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076888	0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077610	1.00[YRI][hapmap]
rs12078050	1.00[YRI][hapmap]
rs12079983	0.94[YRI][hapmap]
rs12080611	1.00[YRI][hapmap]
rs12081201	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081764	1.00[YRI][hapmap]
rs12084318	1.00[YRI][hapmap]
rs12084517	1.00[YRI][hapmap]
rs12084841	1.00[YRI][hapmap]
rs12087173	1.00[YRI][hapmap]
rs12087411	1.00[YRI][hapmap]
rs12087562	1.00[YRI][hapmap]
rs12088431	1.00[YRI][hapmap]
rs12088485	1.00[YRI][hapmap]
rs12089469	1.00[YRI][hapmap]
rs12090165	1.00[YRI][hapmap]
rs12090251	1.00[YRI][hapmap]
rs12090937	1.00[YRI][hapmap]
rs12091686	1.00[YRI][hapmap]
rs12092463	0.95[YRI][hapmap]
rs12092594	1.00[YRI][hapmap]
rs12093445	1.00[YRI][hapmap]
rs12094326	1.00[YRI][hapmap]
rs12095684	1.00[YRI][hapmap]
rs12097114	1.00[YRI][hapmap]
rs57893270	0.85[AMR][1000 genomes]
rs58078052	0.85[AMR][1000 genomes]
rs58438796	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58688129	0.85[AMR][1000 genomes]
rs58826347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58917243	0.85[AMR][1000 genomes]
rs59071173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59451280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59921476	0.85[AMR][1000 genomes]
rs60280211	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60823702	0.85[AMR][1000 genomes]
rs61038985	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61058506	0.85[AMR][1000 genomes]
rs61213326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425649	0.90[YRI][hapmap]
rs6425651	0.85[AMR][1000 genomes]
rs6425654	0.85[AMR][1000 genomes]
rs6659121	1.00[YRI][hapmap]
rs6659262	0.85[AMR][1000 genomes]
rs6668077	1.00[YRI][hapmap]
rs6668578	1.00[YRI][hapmap]
rs6672886	1.00[YRI][hapmap]
rs6672994	1.00[YRI][hapmap]
rs6675189	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675596	1.00[YRI][hapmap]
rs6681878	1.00[YRI][hapmap]
rs6682446	1.00[YRI][hapmap]
rs6682537	0.95[YRI][hapmap]
rs6686781	1.00[YRI][hapmap]
rs6686881	1.00[YRI][hapmap]
rs6688066	0.85[AMR][1000 genomes]
rs6688797	0.85[AMR][1000 genomes]
rs6692456	0.85[AMR][1000 genomes]
rs6692867	1.00[YRI][hapmap]
rs6693045	1.00[YRI][hapmap]
rs6693245	1.00[YRI][hapmap]
rs6698724	1.00[YRI][hapmap]
rs6704318	0.85[AMR][1000 genomes]
rs73034834	0.85[AMR][1000 genomes]
rs73034843	0.85[AMR][1000 genomes]
rs73034849	0.85[AMR][1000 genomes]
rs73034858	0.85[AMR][1000 genomes]
rs73034861	0.85[AMR][1000 genomes]
rs73034880	0.85[AMR][1000 genomes]
rs73034895	0.85[AMR][1000 genomes]
rs73036503	0.85[AMR][1000 genomes]
rs73036511	0.85[AMR][1000 genomes]
rs73036513	0.85[AMR][1000 genomes]
rs73040964	0.85[AMR][1000 genomes]
rs73040979	0.85[AMR][1000 genomes]
rs73042709	0.85[AMR][1000 genomes]
rs73044553	0.85[AMR][1000 genomes]
rs73044557	0.85[AMR][1000 genomes]
rs73044560	0.85[AMR][1000 genomes]
rs73047677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047679	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047683	0.85[AMR][1000 genomes]
rs73047689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047690	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047693	0.85[AMR][1000 genomes]
rs73047696	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049473	0.85[AMR][1000 genomes]
rs73049477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049479	0.85[AMR][1000 genomes]
rs73049494	0.85[AMR][1000 genomes]
rs73049495	0.85[AMR][1000 genomes]
rs73049502	0.85[AMR][1000 genomes]
rs73051223	0.85[AMR][1000 genomes]
rs73051232	0.85[AMR][1000 genomes]
rs73051247	0.85[AMR][1000 genomes]
rs73051258	0.85[AMR][1000 genomes]
rs7512042	0.94[YRI][hapmap]
rs7513368	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7513630	0.85[AMR][1000 genomes]
rs7517852	1.00[YRI][hapmap]
rs7522604	1.00[YRI][hapmap]
rs7523694	0.85[AMR][1000 genomes]
rs7525801	1.00[YRI][hapmap]
rs7527074	0.94[YRI][hapmap]
rs7528848	0.85[AMR][1000 genomes]
rs7528955	0.85[AMR][1000 genomes]
rs7533479	0.93[YRI][hapmap]
rs7536352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542521	1.00[YRI][hapmap]
rs7549787	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180603600-180626400	Weak transcription	Fetal Lung	lung
3	chr1:180605600-180625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:180605800-180625000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:180609800-180625800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:180612800-180626400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:180613200-180632600	Weak transcription	Aorta	Aorta
8	chr1:180613400-180626400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:180613400-180626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:180615600-180623800	Weak transcription	Primary B cells from cord blood	blood
11	chr1:180616200-180624800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:180616400-180627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:180616600-180624400	Weak transcription	K562	blood
14	chr1:180616600-180626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:180619600-180632600	Weak transcription	Pancreas	Pancrea
16	chr1:180619600-180634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:180622400-180626400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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