Variant report

Variant	rs12064908
Chromosome Location	chr1:46058525-46058526
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45185937..45187486-chr1:46057167..46058837,2	K562	blood:
2	chr1:46056677..46058691-chr1:46065641..46067406,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11211127	1.00[AMR][1000 genomes]
rs11211144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211148	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211150	1.00[YRI][hapmap]
rs11211153	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211154	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211155	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211156	1.00[AMR][1000 genomes]
rs11211167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057167	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060056	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061890	1.00[AMR][1000 genomes]
rs12062361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12063380	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067882	1.00[AMR][1000 genomes]
rs12070146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070177	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	1.00[AMR][1000 genomes]
rs12073132	1.00[AMR][1000 genomes]
rs12077112	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[AMR][1000 genomes]
rs12085372	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes]
rs12091360	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes]
rs12094011	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097914	1.00[AMR][1000 genomes]
rs16832540	1.00[AMR][1000 genomes]
rs16832550	1.00[AMR][1000 genomes]
rs16832553	1.00[AMR][1000 genomes]
rs16832557	1.00[AMR][1000 genomes]
rs1691225	1.00[AMR][1000 genomes]
rs1691226	1.00[AMR][1000 genomes]
rs1691227	1.00[AMR][1000 genomes]
rs1762087	1.00[AMR][1000 genomes]
rs2782489	1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs35067820	1.00[AMR][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs486346	1.00[AMR][1000 genomes]
rs505175	1.00[AMR][1000 genomes]
rs506094	1.00[AMR][1000 genomes]
rs525706	1.00[AMR][1000 genomes]
rs622296	1.00[AMR][1000 genomes]
rs635446	1.00[AMR][1000 genomes]
rs665014	1.00[AMR][1000 genomes]
rs668289	1.00[AMR][1000 genomes]
rs6690210	1.00[YRI][hapmap]
rs669417	1.00[AMR][1000 genomes]
rs680267	1.00[AMR][1000 genomes]
rs7550744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
3	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
4	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	esv3342998	chr1:46035908-46066462	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46050800-46060200	Weak transcription	Aorta	Aorta
2	chr1:46051400-46069800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:46051600-46060000	Weak transcription	HSMMtube	muscle
4	chr1:46051600-46060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:46051800-46060000	Weak transcription	Fetal Kidney	kidney
6	chr1:46052000-46081000	Weak transcription	Small Intestine	intestine
7	chr1:46052200-46060000	Weak transcription	Esophagus	oesophagus
8	chr1:46052200-46063800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:46052200-46084200	Weak transcription	Right Atrium	heart
10	chr1:46052400-46059600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:46052400-46060200	Weak transcription	Colonic Mucosa	Colon
12	chr1:46052400-46060800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:46052400-46080600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:46052600-46060200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:46052800-46058600	Weak transcription	HMEC	breast
16	chr1:46052800-46059200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:46052800-46060000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:46052800-46060200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:46052800-46060200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:46052800-46060200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:46052800-46060200	Weak transcription	Ovary	ovary
22	chr1:46052800-46060400	Weak transcription	HUVEC	blood vessel
23	chr1:46052800-46065200	Strong transcription	Fetal Thymus	thymus
24	chr1:46052800-46066600	Weak transcription	NHDF-Ad	bronchial
25	chr1:46052800-46066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:46052800-46067800	Weak transcription	NHLF	lung
27	chr1:46052800-46078400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:46052800-46081000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:46053000-46061000	Strong transcription	Fetal Intestine Small	intestine
33	chr1:46053000-46062400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:46053200-46059400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:46053200-46059600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:46053200-46059600	Weak transcription	Spleen	Spleen
37	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:46053400-46064400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:46053400-46066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:46053600-46060200	Weak transcription	Pancreas	Pancrea
41	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:46053800-46071800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:46055000-46062000	Strong transcription	K562	blood
44	chr1:46055000-46067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:46055200-46060000	Weak transcription	GM12878-XiMat	blood
47	chr1:46055200-46063400	Strong transcription	HepG2	liver
48	chr1:46055200-46090400	Strong transcription	Dnd41	blood
49	chr1:46055600-46059400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:46055600-46065800	Strong transcription	H1 Cell Line	embryonic stem cell

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