Variant report

Variant	rs12058147
Chromosome Location	chr1:92725575-92725576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92724491..92726278-chr1:92728631..92730987,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10399670	1.00[EUR][1000 genomes]
rs10399724	1.00[EUR][1000 genomes]
rs10399865	1.00[EUR][1000 genomes]
rs10399960	1.00[EUR][1000 genomes]
rs11164364	1.00[EUR][1000 genomes]
rs11164660	1.00[EUR][1000 genomes]
rs11166022	1.00[EUR][1000 genomes]
rs11166028	1.00[EUR][1000 genomes]
rs11166030	1.00[EUR][1000 genomes]
rs11166044	1.00[EUR][1000 genomes]
rs11166045	1.00[EUR][1000 genomes]
rs11166066	1.00[EUR][1000 genomes]
rs11166068	1.00[EUR][1000 genomes]
rs11166107	1.00[EUR][1000 genomes]
rs11166118	1.00[EUR][1000 genomes]
rs11166189	1.00[EUR][1000 genomes]
rs11166200	1.00[EUR][1000 genomes]
rs11166203	1.00[EUR][1000 genomes]
rs11166390	1.00[EUR][1000 genomes]
rs11166543	1.00[EUR][1000 genomes]
rs12057625	1.00[EUR][1000 genomes]
rs12057715	1.00[EUR][1000 genomes]
rs12057860	1.00[EUR][1000 genomes]
rs12059439	1.00[EUR][1000 genomes]
rs12059473	1.00[EUR][1000 genomes]
rs12059645	1.00[EUR][1000 genomes]
rs12061480	1.00[EUR][1000 genomes]
rs12061953	1.00[EUR][1000 genomes]
rs12062143	1.00[EUR][1000 genomes]
rs12063053	1.00[EUR][1000 genomes]
rs12063404	1.00[EUR][1000 genomes]
rs12064015	1.00[EUR][1000 genomes]
rs12064732	1.00[EUR][1000 genomes]
rs12065163	1.00[EUR][1000 genomes]
rs12065626	1.00[EUR][1000 genomes]
rs12065694	1.00[EUR][1000 genomes]
rs12065702	1.00[EUR][1000 genomes]
rs12066980	1.00[EUR][1000 genomes]
rs12067302	1.00[EUR][1000 genomes]
rs12068883	1.00[EUR][1000 genomes]
rs12069690	1.00[EUR][1000 genomes]
rs12069984	1.00[EUR][1000 genomes]
rs12070249	1.00[EUR][1000 genomes]
rs12071033	1.00[EUR][1000 genomes]
rs12071088	1.00[EUR][1000 genomes]
rs12072804	1.00[EUR][1000 genomes]
rs12073274	1.00[EUR][1000 genomes]
rs12074384	1.00[EUR][1000 genomes]
rs12075870	1.00[EUR][1000 genomes]
rs12076399	1.00[EUR][1000 genomes]
rs12076954	1.00[EUR][1000 genomes]
rs12078738	1.00[EUR][1000 genomes]
rs12080119	1.00[EUR][1000 genomes]
rs12080525	1.00[EUR][1000 genomes]
rs12085789	1.00[EUR][1000 genomes]
rs12086354	1.00[EUR][1000 genomes]
rs12086426	1.00[EUR][1000 genomes]
rs12087282	1.00[EUR][1000 genomes]
rs12088142	1.00[EUR][1000 genomes]
rs12088549	1.00[EUR][1000 genomes]
rs12088562	1.00[EUR][1000 genomes]
rs12089666	1.00[EUR][1000 genomes]
rs12090217	1.00[EUR][1000 genomes]
rs12091427	1.00[EUR][1000 genomes]
rs12092747	1.00[EUR][1000 genomes]
rs12093038	1.00[EUR][1000 genomes]
rs12093590	1.00[EUR][1000 genomes]
rs12093905	1.00[EUR][1000 genomes]
rs12094086	1.00[EUR][1000 genomes]
rs12095429	1.00[EUR][1000 genomes]
rs12096979	1.00[EUR][1000 genomes]
rs12097184	1.00[EUR][1000 genomes]
rs1483020	1.00[EUR][1000 genomes]
rs1483021	1.00[EUR][1000 genomes]
rs1487538	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17100275	1.00[EUR][1000 genomes]
rs17131601	1.00[EUR][1000 genomes]
rs17131604	1.00[EUR][1000 genomes]
rs17131606	1.00[EUR][1000 genomes]
rs17131614	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131625	1.00[EUR][1000 genomes]
rs17131626	1.00[EUR][1000 genomes]
rs17131634	1.00[EUR][1000 genomes]
rs2046297	1.00[EUR][1000 genomes]
rs2170644	1.00[EUR][1000 genomes]
rs35166258	1.00[EUR][1000 genomes]
rs35428675	1.00[EUR][1000 genomes]
rs57820459	1.00[EUR][1000 genomes]
rs58471288	1.00[EUR][1000 genomes]
rs59366523	1.00[EUR][1000 genomes]
rs59385116	1.00[EUR][1000 genomes]
rs59800659	1.00[EUR][1000 genomes]
rs60332284	1.00[EUR][1000 genomes]
rs6657876	1.00[EUR][1000 genomes]
rs6679077	1.00[EUR][1000 genomes]
rs72956818	1.00[EUR][1000 genomes]
rs72956832	1.00[EUR][1000 genomes]
rs72956833	1.00[EUR][1000 genomes]
rs72956863	1.00[EUR][1000 genomes]
rs72956874	1.00[EUR][1000 genomes]
rs72956893	1.00[EUR][1000 genomes]
rs72958765	1.00[EUR][1000 genomes]
rs72958768	1.00[EUR][1000 genomes]
rs72958786	1.00[EUR][1000 genomes]
rs72958791	1.00[EUR][1000 genomes]
rs72960809	1.00[EUR][1000 genomes]
rs72960813	1.00[EUR][1000 genomes]
rs72960817	1.00[EUR][1000 genomes]
rs72960824	1.00[EUR][1000 genomes]
rs72960880	1.00[EUR][1000 genomes]
rs72960900	1.00[EUR][1000 genomes]
rs72962603	1.00[EUR][1000 genomes]
rs72962608	1.00[EUR][1000 genomes]
rs72962610	1.00[EUR][1000 genomes]
rs72962621	1.00[EUR][1000 genomes]
rs72962625	1.00[EUR][1000 genomes]
rs72962628	1.00[EUR][1000 genomes]
rs7512045	1.00[EUR][1000 genomes]
rs7552286	1.00[EUR][1000 genomes]
rs9660398	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1794222	chr1:92711407-92735359	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv518196	chr1:92717666-92727140	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92705600-92726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:92705800-92729200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:92709000-92737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:92709400-92735800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:92709600-92730800	Weak transcription	Hela-S3	cervix
9	chr1:92710000-92737600	Weak transcription	HSMM	muscle
10	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:92710200-92739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:92710600-92726000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:92710600-92726200	Weak transcription	Right Ventricle	heart
14	chr1:92710600-92726200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:92710600-92726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:92710600-92753200	Weak transcription	Small Intestine	intestine
17	chr1:92710600-92762000	Weak transcription	Fetal Brain Male	brain
18	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
19	chr1:92710600-92764000	Weak transcription	Gastric	stomach
20	chr1:92710800-92726800	Weak transcription	NH-A	brain
21	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
22	chr1:92711200-92726400	Weak transcription	A549	lung
23	chr1:92711200-92727000	Weak transcription	HepG2	liver
24	chr1:92711200-92738200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:92711200-92742800	Weak transcription	NHLF	lung
26	chr1:92711200-92761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:92711200-92764000	Weak transcription	Spleen	Spleen
28	chr1:92712400-92726400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:92712800-92725800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:92712800-92726400	Weak transcription	Osteobl	bone
31	chr1:92713000-92726800	Weak transcription	NHDF-Ad	bronchial
32	chr1:92713200-92728000	Weak transcription	HUVEC	blood vessel
33	chr1:92713600-92726600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:92713800-92725600	Weak transcription	GM12878-XiMat	blood
35	chr1:92713800-92728000	Weak transcription	HMEC	breast
36	chr1:92715000-92731600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:92715600-92738200	Weak transcription	K562	blood
38	chr1:92717200-92725600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:92717400-92734800	Weak transcription	Psoas Muscle	Psoas
40	chr1:92718000-92738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:92718800-92726400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:92719000-92726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:92719200-92726800	Weak transcription	Lung	lung
44	chr1:92719400-92728200	Weak transcription	Placenta	Placenta
45	chr1:92719400-92745000	Weak transcription	Esophagus	oesophagus
46	chr1:92719400-92764000	Weak transcription	Pancreas	Pancrea
47	chr1:92719600-92725600	Weak transcription	Primary B cells from cord blood	blood
48	chr1:92719600-92730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:92719600-92760800	Weak transcription	Fetal Heart	heart
50	chr1:92720000-92726800	Weak transcription	H1 Cell Line	embryonic stem cell

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