Variant report

Variant	rs11156673
Chromosome Location	chr14:31904160-31904161
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	chr14:31899509..31901563-chr14:31901913..31904667,2	K562	blood:
2	chr14:31890242..31892614-chr14:31901862..31904809,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10134812	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10138925	0.83[EUR][1000 genomes]
rs10147284	0.90[EUR][1000 genomes]
rs10150938	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10151479	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11156667	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs11620714	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622544	0.81[EUR][1000 genomes]
rs11845550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11845830	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11846073	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11847017	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11847614	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11850265	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11850273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11851140	1.00[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs12436396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590885	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12881016	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881925	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12891556	1.00[EUR][1000 genomes]
rs12891787	0.97[EUR][1000 genomes]
rs12892435	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12893465	0.85[CEU][hapmap];0.80[MEX][hapmap]
rs13176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1888576	0.85[CEU][hapmap]
rs1958027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094906	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2182254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2274291	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs34182758	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34278949	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34704647	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35483550	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4981100	0.96[EUR][1000 genomes]
rs4981101	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4981849	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981850	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4981851	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5016597	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61180027	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6571423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6571426	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7149165	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7149522	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153450	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154915	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7157390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7159566	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8005942	0.80[EUR][1000 genomes]
rs8006990	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8007488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8007946	0.91[EUR][1000 genomes]
rs8008016	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8010209	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8011206	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8012658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][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	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	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11156673	EGLN3	cis	cerebellum	SCAN
rs11156673	C14orf126	Cis_1M	lymphoblastoid	RTeQTL
rs11156673	HEATR5A	cis	cerebellum	SCAN
rs11156673	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890200-31904200	Weak transcription	Right Atrium	heart
2	chr14:31890400-31907400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:31890400-31910400	Weak transcription	Placenta	Placenta
4	chr14:31890400-31910400	Weak transcription	Ovary	ovary
5	chr14:31890400-31917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
7	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
8	chr14:31890600-31904400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:31890600-31910600	Weak transcription	Fetal Heart	heart
10	chr14:31890600-31919000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:31890600-31919200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:31890600-31920600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:31890600-31922400	Weak transcription	Brain Angular Gyrus	brain
14	chr14:31890800-31920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:31896000-31907400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:31896200-31919600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:31896400-31904200	Weak transcription	Adipose Nuclei	Adipose
19	chr14:31900400-31920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:31901200-31910600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:31901200-31921200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:31901200-31922400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:31901400-31913400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:31901400-31917000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:31901600-31904400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:31901600-31904400	Weak transcription	Fetal Lung	lung
27	chr14:31901600-31916200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:31901600-31917000	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:31901800-31904200	Weak transcription	Fetal Brain Male	brain
30	chr14:31901800-31904800	Weak transcription	Primary B cells from cord blood	blood
31	chr14:31901800-31907600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:31901800-31908200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:31901800-31908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:31901800-31913400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:31901800-31917200	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:31901800-31920400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:31902000-31914600	Weak transcription	Fetal Brain Female	brain
38	chr14:31903600-31905400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:31903800-31905000	Enhancers	HSMM	muscle
40	chr14:31903800-31905200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:31903800-31905200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:31904000-31904200	Enhancers	Colon Smooth Muscle	Colon
43	chr14:31904000-31904200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr14:31904000-31905200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr14:31904000-31905200	Enhancers	NHDF-Ad	bronchial
46	chr14:31904000-31905200	Enhancers	Osteobl	bone

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