Variant report

Variant	rs2180299
Chromosome Location	chr14:66116743-66116744
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	chr14:66114802..66117268-chr14:66124084..66126827,2	MCF-7	breast:
2	chr14:66111572..66114792-chr14:66115017..66117759,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10083363	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1009465	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135969	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136752	0.93[EUR][1000 genomes]
rs10143206	0.83[AFR][1000 genomes]
rs10148699	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467734	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873192	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158597	0.87[EUR][1000 genomes]
rs11622767	0.91[EUR][1000 genomes]
rs11848209	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956008	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956009	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2300864	0.81[AFR][1000 genomes]
rs2411349	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411354	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411813	1.00[ASN][1000 genomes]
rs2898816	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902408	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902413	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141367	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144345	0.83[AFR][1000 genomes]
rs7144971	0.83[AFR][1000 genomes]
rs7147231	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150233	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151148	0.82[EUR][1000 genomes]
rs7153497	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160390	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714491	1.00[ASN][1000 genomes]
rs72714498	1.00[ASN][1000 genomes]
rs8010558	0.91[EUR][1000 genomes]
rs8017258	1.00[ASN][1000 genomes]
rs8019762	0.81[AFR][1000 genomes]
rs8021889	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671406	0.94[AMR][1000 genomes];0.91[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	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
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66080800-66117600	Weak transcription	Left Ventricle	heart
2	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
3	chr14:66082800-66117600	Weak transcription	Aorta	Aorta
4	chr14:66086400-66119600	Weak transcription	Pancreas	Pancrea
5	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
6	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:66098000-66125000	Weak transcription	Brain Substantia Nigra	brain
8	chr14:66098200-66118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:66099000-66135200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:66099200-66135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:66104600-66117200	Weak transcription	Fetal Intestine Small	intestine
14	chr14:66105000-66117600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:66105000-66125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:66105000-66143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:66105000-66149600	Weak transcription	Fetal Thymus	thymus
18	chr14:66105000-66157400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:66105200-66117400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:66105200-66119000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:66105200-66120200	Weak transcription	NH-A	brain
22	chr14:66105200-66135600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:66105200-66136000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:66107000-66126400	Weak transcription	Stomach Mucosa	stomach
25	chr14:66112200-66122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:66112600-66122400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:66113200-66117200	Weak transcription	Primary B cells from cord blood	blood
28	chr14:66113200-66117400	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:66113400-66118200	Weak transcription	Fetal Intestine Large	intestine
30	chr14:66113400-66119600	Weak transcription	Gastric	stomach
31	chr14:66113400-66141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:66114000-66122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:66114000-66124200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:66114000-66135600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:66114600-66123200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:66115400-66120000	Weak transcription	Lung	lung
37	chr14:66116000-66117400	Weak transcription	GM12878-XiMat	blood
38	chr14:66116200-66135000	Weak transcription	Dnd41	blood
39	chr14:66116400-66117600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:66116400-66118800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:66116600-66117000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:66116600-66117400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:66116600-66117600	Weak transcription	Primary T cells from cord blood	blood

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