Variant report

Variant	rs8010616
Chromosome Location	chr14:72019108-72019109
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	chr14:71786406..71788603-chr14:72017534..72020193,2	MCF-7	breast:
2	chr14:72014462..72017337-chr14:72017571..72020406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction
ENSG00000259146	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10135680	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10138557	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10139519	0.88[EUR][1000 genomes]
rs1029570	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10483836	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11848785	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12433040	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12879243	0.85[EUR][1000 genomes]
rs12880188	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12880611	0.86[EUR][1000 genomes]
rs12881643	0.83[EUR][1000 genomes]
rs12881957	0.83[EUR][1000 genomes]
rs12885344	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12889866	0.86[EUR][1000 genomes]
rs12892512	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12894016	0.85[EUR][1000 genomes]
rs12894478	0.82[EUR][1000 genomes]
rs12896900	0.87[EUR][1000 genomes]
rs12896986	0.86[EUR][1000 genomes]
rs17178206	0.86[EUR][1000 genomes]
rs17178234	0.86[EUR][1000 genomes]
rs17178387	0.84[EUR][1000 genomes]
rs17767446	0.82[EUR][1000 genomes]
rs17767499	0.83[EUR][1000 genomes]
rs17767523	0.86[EUR][1000 genomes]
rs17767553	0.86[EUR][1000 genomes]
rs17767680	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17767686	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1859643	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1981588	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2108049	0.86[EUR][1000 genomes]
rs2108057	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2108707	0.80[EUR][1000 genomes]
rs2109276	0.86[EUR][1000 genomes]
rs2190240	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2214836	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2332638	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2332640	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332641	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2877729	0.85[EUR][1000 genomes]
rs28859432	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33994051	0.86[EUR][1000 genomes]
rs34169215	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34176710	0.84[EUR][1000 genomes]
rs34281934	0.84[EUR][1000 genomes]
rs34320622	0.86[EUR][1000 genomes]
rs34347034	0.85[EUR][1000 genomes]
rs34454371	0.85[EUR][1000 genomes]
rs34469007	0.86[EUR][1000 genomes]
rs34480562	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34524083	0.82[EUR][1000 genomes]
rs34528131	0.82[EUR][1000 genomes]
rs34748537	0.82[EUR][1000 genomes]
rs34993988	0.83[EUR][1000 genomes]
rs35051046	0.83[EUR][1000 genomes]
rs35231795	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35260692	0.82[EUR][1000 genomes]
rs35415083	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35468256	0.83[EUR][1000 genomes]
rs35589413	0.84[EUR][1000 genomes]
rs35613269	0.86[EUR][1000 genomes]
rs35680546	0.84[EUR][1000 genomes]
rs35760654	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35854505	0.83[EUR][1000 genomes]
rs35971049	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36052007	0.84[EUR][1000 genomes]
rs36072220	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36093218	0.84[EUR][1000 genomes]
rs3784062	0.93[EUR][1000 genomes]
rs3784064	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784066	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3825719	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4319698	0.80[EUR][1000 genomes]
rs4899398	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4902938	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902941	0.92[EUR][1000 genomes]
rs4902942	0.82[EUR][1000 genomes]
rs55883127	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56180634	0.82[EUR][1000 genomes]
rs56407721	0.83[EUR][1000 genomes]
rs61989367	0.86[EUR][1000 genomes]
rs61989373	0.86[EUR][1000 genomes]
rs61989374	0.86[EUR][1000 genomes]
rs61989377	0.85[EUR][1000 genomes]
rs61989382	0.84[EUR][1000 genomes]
rs61989383	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61989386	0.84[EUR][1000 genomes]
rs61991247	0.82[EUR][1000 genomes]
rs61991248	0.82[EUR][1000 genomes]
rs61991250	0.82[EUR][1000 genomes]
rs61991254	0.82[EUR][1000 genomes]
rs61991255	0.86[EUR][1000 genomes]
rs6574015	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6574016	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66645707	0.84[EUR][1000 genomes]
rs67489015	0.83[EUR][1000 genomes]
rs7140501	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7142343	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144299	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144829	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7145755	0.83[EUR][1000 genomes]
rs7147434	0.81[EUR][1000 genomes]
rs7147668	0.82[EUR][1000 genomes]
rs7152674	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7154787	0.83[EUR][1000 genomes]
rs7154841	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7156313	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7156460	0.82[EUR][1000 genomes]
rs7157241	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs722633	0.86[EUR][1000 genomes]
rs725673	0.86[EUR][1000 genomes]
rs757850	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003478	0.86[EUR][1000 genomes]
rs8006300	0.85[EUR][1000 genomes]
rs8008605	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8013161	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8014349	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8017775	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9323561	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9672060	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
2	chr14:71981400-72021400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:72006600-72019400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:72006600-72021800	Weak transcription	Small Intestine	intestine
5	chr14:72007200-72019600	Weak transcription	Primary B cells from cord blood	blood
6	chr14:72007200-72020200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:72007200-72021800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:72007400-72020400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:72009800-72019600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:72010000-72020800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:72015200-72021800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:72015600-72023000	Weak transcription	Pancreas	Pancrea
13	chr14:72016000-72021800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr14:72016400-72019400	Weak transcription	Brain Angular Gyrus	brain
15	chr14:72017000-72021200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:72017600-72020000	Enhancers	GM12878-XiMat	blood
17	chr14:72017600-72021800	Weak transcription	K562	blood
18	chr14:72017800-72019400	Weak transcription	Primary T cells from cord blood	blood
19	chr14:72017800-72020000	Weak transcription	Thymus	Thymus
20	chr14:72017800-72022800	Weak transcription	Brain Substantia Nigra	brain
21	chr14:72018000-72030000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:72018200-72022000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:72018400-72019400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:72018400-72020000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:72018400-72020000	Weak transcription	Liver	Liver
26	chr14:72018400-72022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:72018400-72022600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:72018400-72022800	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:72018600-72019600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:72018600-72020000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:72018600-72021800	Weak transcription	Fetal Thymus	thymus
32	chr14:72018600-72021800	Weak transcription	Spleen	Spleen
33	chr14:72018600-72022000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:72018600-72022400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:72018600-72022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:72018600-72022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:72018600-72022400	Weak transcription	NHLF	lung
38	chr14:72018800-72019200	Weak transcription	Dnd41	blood
39	chr14:72018800-72020000	Weak transcription	HepG2	liver
40	chr14:72018800-72021800	Weak transcription	NHDF-Ad	bronchial
41	chr14:72018800-72022400	Weak transcription	NHEK	skin
42	chr14:72018800-72022800	Weak transcription	Fetal Heart	heart
43	chr14:72019000-72021400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:72019000-72022200	Weak transcription	Osteobl	bone
45	chr14:72019000-72022400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:72019000-72022400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:72019000-72022800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:72019000-72023200	Weak transcription	HSMM	muscle

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