Variant report

Variant	rs2014061
Chromosome Location	chr1:169369883-169369884
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169363269..169365266-chr1:169367448..169370534,3	K562	blood:
2	chr1:169353969..169356305-chr1:169367810..169369890,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10429893	0.86[CEU][hapmap]
rs10458395	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10458396	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10458397	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489187	0.81[ASN][1000 genomes]
rs10489188	0.81[ASN][1000 genomes]
rs10800439	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919154	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10919155	0.81[ASN][1000 genomes]
rs10919163	0.81[ASN][1000 genomes]
rs10919164	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112839	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799936	0.81[ASN][1000 genomes]
rs11799948	0.81[ASN][1000 genomes]
rs11800843	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs11808015	0.81[ASN][1000 genomes]
rs12021770	0.81[ASN][1000 genomes]
rs12022776	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12024897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026287	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026728	0.81[ASN][1000 genomes]
rs12026996	0.86[CHB][hapmap]
rs12027242	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12028813	0.81[ASN][1000 genomes]
rs12029853	0.86[CHB][hapmap]
rs12030320	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs12032201	0.81[ASN][1000 genomes]
rs12033253	0.86[CHB][hapmap]
rs12034986	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037211	0.86[CHB][hapmap]
rs12038609	0.86[CHB][hapmap]
rs12043489	0.86[CHB][hapmap]
rs12049227	0.81[ASN][1000 genomes]
rs12563090	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564884	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400836	0.85[CEU][hapmap]
rs1415928	0.86[CHB][hapmap]
rs1517748	0.97[ASN][1000 genomes]
rs1589113	0.86[CHB][hapmap]
rs16862118	0.81[ASN][1000 genomes]
rs16862172	0.86[CHB][hapmap]
rs1980198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2003652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003654	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235195	0.86[CHB][hapmap]
rs2268048	0.86[CHB][hapmap]
rs2275299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28566091	0.81[ASN][1000 genomes]
rs35269183	0.81[ASN][1000 genomes]
rs3753303	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766089	0.86[CHB][hapmap]
rs3766095	0.86[CEU][hapmap]
rs3766096	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3905328	0.85[CEU][hapmap]
rs4656183	0.83[CEU][hapmap]
rs4656670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656672	0.86[CEU][hapmap]
rs61807018	0.81[ASN][1000 genomes]
rs6427185	0.85[CEU][hapmap]
rs6427186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427188	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6427189	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6427191	0.81[ASN][1000 genomes]
rs6660945	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690801	0.81[ASN][1000 genomes]
rs6696428	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72702179	0.81[ASN][1000 genomes]
rs72702188	0.81[ASN][1000 genomes]
rs7516248	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7528375	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528449	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7535788	0.81[ASN][1000 genomes]
rs7537890	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7539415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554703	0.98[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs961404	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9659035	0.81[ASN][1000 genomes]

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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2014061	NME7	Cis_1M	lymphoblastoid	RTeQTL
rs2014061	NME7	cis	Thyroid	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169354000-169370000	Weak transcription	Aorta	Aorta
2	chr1:169354800-169370600	Weak transcription	Fetal Kidney	kidney
3	chr1:169360600-169372200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:169360800-169370600	Weak transcription	NHLF	lung
5	chr1:169360800-169395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:169362200-169370000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:169362200-169370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:169362200-169371200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:169362400-169370000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:169362400-169370000	Weak transcription	Fetal Brain Female	brain
11	chr1:169363400-169371200	Weak transcription	Ovary	ovary
12	chr1:169364400-169375600	Weak transcription	Brain Anterior Caudate	brain
13	chr1:169365400-169370200	Weak transcription	NH-A	brain
14	chr1:169365600-169370800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:169365600-169371000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:169365600-169371200	Weak transcription	Fetal Lung	lung
17	chr1:169365800-169372400	Weak transcription	HSMM	muscle
18	chr1:169366000-169370400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:169366200-169370000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:169367400-169370000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:169367400-169370200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:169368200-169371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:169369600-169370400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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