Variant report

Variant	rs8012658
Chromosome Location	chr14:31918957-31918958
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31915577..31920525-chr14:31924298..31927871,6	MCF-7	breast:
2	chr14:31888336..31890825-chr14:31917653..31919383,2	MCF-7	breast:
3	chr14:31888413..31890616-chr14:31917360..31920011,3	MCF-7	breast:
4	chr14:31918485..31921453-chr14:31921609..31924237,3	MCF-7	breast:
5	chr14:31881996..31884911-chr14:31918681..31921369,2	MCF-7	breast:
6	chr14:31913970..31917383-chr14:31917651..31919831,3	MCF-7	breast:
7	chr14:31917093..31923585-chr14:31924368..31929094,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129493	Chromatin interaction
ENSG00000129480	Chromatin interaction
ENSG00000203546	Chromatin interaction
ENSG00000250365	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10134812	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138925	0.85[EUR][1000 genomes]
rs10147284	0.92[EUR][1000 genomes]
rs10150938	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10151479	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11156667	0.88[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs11156673	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11620714	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11625148	0.81[EUR][1000 genomes]
rs11845550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845830	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11846073	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11847017	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11847614	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11850265	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11850273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11851140	1.00[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes]
rs12436396	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590885	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12881016	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881925	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12891556	0.95[EUR][1000 genomes]
rs12891787	0.98[EUR][1000 genomes]
rs12892435	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12893465	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs13176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888576	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs1958027	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2094906	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2182254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274291	1.00[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs34182758	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34278949	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34704647	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35483550	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981100	0.98[EUR][1000 genomes]
rs4981101	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4981849	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981850	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981851	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5016597	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61180027	0.89[ASN][1000 genomes]
rs6571423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6571426	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149165	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149522	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7153450	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154915	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7157390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159566	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8005942	0.81[EUR][1000 genomes]
rs8006990	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8007946	0.93[EUR][1000 genomes]
rs8008016	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010209	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8011206	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8012658	RP11-176H8.1	cis	Muscle Skeletal	GTEx
rs8012658	EGLN3	cis	cerebellum	SCAN
rs8012658	C14orf126	Cis_1M	lymphoblastoid	RTeQTL
rs8012658	RNMTL1	trans	cerebellum	SCAN
rs8012658	HEATR5A	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
2	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
3	chr14:31890600-31919000	Weak transcription	Brain Anterior Caudate	brain
4	chr14:31890600-31919200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:31890600-31920600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:31890600-31922400	Weak transcription	Brain Angular Gyrus	brain
7	chr14:31890800-31920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:31896200-31919600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:31900400-31920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:31901200-31921200	Weak transcription	Brain Substantia Nigra	brain
12	chr14:31901200-31922400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:31901800-31920400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:31904600-31920600	Weak transcription	Left Ventricle	heart
15	chr14:31904600-31925200	Weak transcription	Fetal Brain Male	brain
16	chr14:31904800-31919600	Weak transcription	Fetal Lung	lung
17	chr14:31905000-31920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:31905200-31925800	Weak transcription	NHDF-Ad	bronchial
19	chr14:31907000-31925200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:31908000-31920000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:31909800-31920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:31910600-31924400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:31911000-31919800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:31911000-31920800	Weak transcription	Ovary	ovary
25	chr14:31911000-31925200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:31911000-31925200	Weak transcription	K562	blood
27	chr14:31911200-31920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:31911200-31925800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:31911400-31921000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:31911400-31921000	Weak transcription	HMEC	breast
31	chr14:31911600-31921200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:31911600-31925200	Weak transcription	Placenta	Placenta
33	chr14:31911600-31926000	Weak transcription	Lung	lung
34	chr14:31911800-31921000	Weak transcription	Fetal Kidney	kidney
35	chr14:31912000-31920600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:31912000-31925800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:31912200-31920600	Weak transcription	NH-A	brain
38	chr14:31912200-31921000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:31912200-31925200	Weak transcription	HSMMtube	muscle
40	chr14:31912200-31925200	Weak transcription	NHLF	lung
41	chr14:31913000-31921200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:31913200-31920800	Weak transcription	Brain Germinal Matrix	brain
43	chr14:31913400-31919000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:31913600-31925200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:31913800-31923600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:31914000-31926000	Weak transcription	Small Intestine	intestine
47	chr14:31914400-31920600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr14:31914800-31919000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:31914800-31922600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:31914800-31922600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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