Variant report

Variant	rs8010209
Chromosome Location	chr14:31905840-31905841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31905050..31906707-chr14:31906776..31909428,2	K562	blood:
2	chr14:31905050..31906638-chr14:31906776..31909651,2	K562	blood:
3	chr14:31888249..31890715-chr14:31905768..31907591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250365	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10134812	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10138925	0.80[EUR][1000 genomes]
rs10147284	0.87[EUR][1000 genomes]
rs10150938	0.85[EUR][1000 genomes]
rs10151479	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11156673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11620714	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11845550	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11845830	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11846073	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11847017	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11847614	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11850265	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11850273	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11851140	0.92[EUR][1000 genomes]
rs12436396	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590885	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12881016	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12881925	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12891556	0.97[EUR][1000 genomes]
rs12891787	0.94[EUR][1000 genomes]
rs12892435	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13176	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1958027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2094906	0.86[EUR][1000 genomes]
rs2182254	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274291	0.93[EUR][1000 genomes]
rs34182758	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34278949	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34704647	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35483550	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4981100	0.93[EUR][1000 genomes]
rs4981101	0.94[EUR][1000 genomes]
rs4981849	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4981850	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4981851	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5016597	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61180027	0.81[ASN][1000 genomes]
rs6571423	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571426	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7149165	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149522	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153450	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154915	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7157390	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159566	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006990	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8007488	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8007946	0.88[EUR][1000 genomes]
rs8008016	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8011206	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8012658	0.92[EUR][1000 genomes];0.90[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8010209	RP11-176H8.1	cis	Muscle Skeletal	GTEx
rs8010209	C14orf126	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890400-31907400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:31890400-31910400	Weak transcription	Placenta	Placenta
3	chr14:31890400-31910400	Weak transcription	Ovary	ovary
4	chr14:31890400-31917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
6	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
7	chr14:31890600-31910600	Weak transcription	Fetal Heart	heart
8	chr14:31890600-31919000	Weak transcription	Brain Anterior Caudate	brain
9	chr14:31890600-31919200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:31890600-31920600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:31890600-31922400	Weak transcription	Brain Angular Gyrus	brain
12	chr14:31890800-31920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:31896000-31907400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:31896200-31919600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:31900400-31920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:31901200-31910600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:31901200-31921200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:31901200-31922400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:31901400-31913400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:31901400-31917000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:31901600-31916200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:31901600-31917000	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:31901800-31907600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:31901800-31908200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:31901800-31908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:31901800-31913400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:31901800-31917200	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:31901800-31920400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:31902000-31914600	Weak transcription	Fetal Brain Female	brain
31	chr14:31904600-31920600	Weak transcription	Left Ventricle	heart
32	chr14:31904600-31925200	Weak transcription	Fetal Brain Male	brain
33	chr14:31904800-31919600	Weak transcription	Fetal Lung	lung
34	chr14:31905000-31910600	Weak transcription	Adipose Nuclei	Adipose
35	chr14:31905000-31910800	Weak transcription	HSMM	muscle
36	chr14:31905000-31915200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:31905000-31918800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:31905000-31920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:31905200-31908400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:31905200-31908600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:31905200-31910400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:31905200-31910600	Weak transcription	Osteobl	bone
43	chr14:31905200-31917200	Weak transcription	Dnd41	blood
44	chr14:31905200-31925800	Weak transcription	NHDF-Ad	bronchial
45	chr14:31905400-31908600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:31905400-31917200	Weak transcription	Primary B cells from cord blood	blood

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