Variant report

Variant	rs2002691
Chromosome Location	chr14:65899385-65899386
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	chr14:65879008..65881327-chr14:65899044..65901379,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10129187	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129732	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130560	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133167	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133902	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133903	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10135594	1.00[EUR][1000 genomes]
rs10135934	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136412	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10141293	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143822	1.00[EUR][1000 genomes]
rs10145561	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10145993	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145996	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146179	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151921	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162379	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162474	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10162506	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220303	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220304	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483775	0.87[EUR][1000 genomes]
rs10483779	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12588029	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379147	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379229	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102686	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102757	0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779061	0.90[AMR][1000 genomes]
rs1813030	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1953419	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1958562	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1959146	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1959147	1.00[CEU][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1959148	0.87[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2092915	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411814	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411818	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411819	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373922	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28390075	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427101	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28430347	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28452027	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28830595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28871950	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898817	1.00[CEU][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898819	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783707	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783712	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4516142	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45549535	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57638372	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58170348	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970730	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573623	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7140251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7141326	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145834	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148401	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7160505	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284130	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284149	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284201	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003664	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014146	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015947	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323462	0.93[CHD][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs945319	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9972109	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65880600-65899400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:65880600-65899400	Weak transcription	Small Intestine	intestine
3	chr14:65880800-65904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:65881000-65899400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:65881000-65902600	Weak transcription	Fetal Intestine Small	intestine
6	chr14:65881800-65901000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:65881800-65902000	Weak transcription	Primary B cells from cord blood	blood
8	chr14:65881800-65902000	Weak transcription	Fetal Intestine Large	intestine
9	chr14:65882600-65900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:65886600-65905600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:65888400-65905400	Weak transcription	Ovary	ovary
12	chr14:65889000-65901400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:65889200-65899400	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:65889200-65899400	Weak transcription	NHDF-Ad	bronchial
15	chr14:65891200-65900400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:65891600-65904000	Weak transcription	Lung	lung
17	chr14:65891800-65904400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:65893000-65917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:65893600-65902200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:65895600-65899600	Weak transcription	Brain Angular Gyrus	brain
22	chr14:65895800-65899400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:65895800-65899400	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:65896000-65899800	Weak transcription	Primary T cells from cord blood	blood
25	chr14:65897000-65925600	Weak transcription	Aorta	Aorta
26	chr14:65898000-65899600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:65898000-65899600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:65898000-65901200	Enhancers	Dnd41	blood
29	chr14:65898200-65899600	Enhancers	Brain Anterior Caudate	brain
30	chr14:65898400-65899400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:65898400-65899400	Weak transcription	Fetal Thymus	thymus
32	chr14:65898400-65899800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:65898400-65900200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr14:65898400-65900200	Enhancers	K562	blood
35	chr14:65898400-65900800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:65898400-65901400	Enhancers	Osteobl	bone
37	chr14:65898400-65901600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:65898400-65935600	Weak transcription	Gastric	stomach
39	chr14:65898600-65899400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:65898600-65899600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:65898600-65899600	Enhancers	GM12878-XiMat	blood
42	chr14:65898600-65899800	Enhancers	NH-A	brain
43	chr14:65898600-65900800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:65898800-65899600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:65898800-65899600	Enhancers	Brain Substantia Nigra	brain
46	chr14:65898800-65899800	Enhancers	Stomach Mucosa	stomach
47	chr14:65898800-65900200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:65898800-65900400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:65898800-65900400	Enhancers	Adipose Nuclei	Adipose
50	chr14:65898800-65901200	Enhancers	Primary B cells from peripheral blood	blood

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