Variant report

Variant	rs2267762
Chromosome Location	chr14:78148225-78148226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78145857..78148967-chr14:78171085..78175520,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119705	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1006038	0.90[CHB][hapmap]
rs1006039	0.90[CHB][hapmap]
rs1006040	0.90[CHB][hapmap]
rs1008988	0.95[CHB][hapmap]
rs10134425	0.91[ASN][1000 genomes]
rs10138747	0.84[ASN][1000 genomes]
rs10139492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10142722	0.90[CHB][hapmap]
rs10143249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10143294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10144448	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10146255	0.84[ASN][1000 genomes]
rs1048147	0.90[CHB][hapmap]
rs10483885	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs114763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11621719	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624103	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11624118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11628838	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11628888	0.85[CHB][hapmap]
rs11846215	0.80[ASN][1000 genomes]
rs12879880	0.86[ASN][1000 genomes]
rs12885306	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap]
rs12887313	0.84[ASN][1000 genomes]
rs12890728	0.85[CHB][hapmap]
rs12890828	0.81[ASN][1000 genomes]
rs1477262	0.90[CHB][hapmap]
rs1477263	0.86[ASN][1000 genomes]
rs1477264	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17106157	0.90[CHB][hapmap]
rs176941	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs176943	0.90[CHB][hapmap]
rs176946	0.90[CHB][hapmap]
rs176947	0.87[ASN][1000 genomes]
rs176948	0.92[ASN][1000 genomes]
rs176951	0.90[CHB][hapmap]
rs176954	0.92[ASN][1000 genomes]
rs176955	0.90[CHB][hapmap]
rs176956	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs176959	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs176961	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176963	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs176964	0.90[CHB][hapmap];0.91[ASN][1000 genomes]
rs176965	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs176968	0.91[ASN][1000 genomes]
rs176969	0.91[ASN][1000 genomes]
rs176970	0.91[ASN][1000 genomes]
rs176972	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176975	0.91[ASN][1000 genomes]
rs176976	0.91[ASN][1000 genomes]
rs176977	0.87[ASN][1000 genomes]
rs176980	0.90[CHB][hapmap]
rs2080703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2111831	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267756	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267759	0.90[CHB][hapmap]
rs2267760	0.90[CHB][hapmap]
rs2267761	0.90[CHB][hapmap]
rs2267763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267766	0.82[ASN][1000 genomes]
rs2277917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2284233	0.89[ASN][1000 genomes]
rs2284234	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2284235	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2299930	0.90[CHB][hapmap]
rs3759728	0.90[CHB][hapmap]
rs3783980	0.90[CHB][hapmap]
rs3783981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4632066	0.90[CHB][hapmap]
rs4641655	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4899670	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899673	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]
rs4899674	0.90[ASN][1000 genomes]
rs4903627	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903638	0.86[ASN][1000 genomes]
rs61992863	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61992864	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61992867	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61992868	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574392	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574394	0.89[ASN][1000 genomes]
rs6574399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6574404	0.86[CHB][hapmap]
rs7141469	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7142262	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7142390	0.90[CHB][hapmap]
rs7143075	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7143926	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7145717	0.86[ASN][1000 genomes]
rs7148078	0.95[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7148126	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7150531	0.85[ASN][1000 genomes]
rs7151685	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7154571	0.82[ASN][1000 genomes]
rs7159821	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159992	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160003	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160355	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs717682	0.86[ASN][1000 genomes]
rs759713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003691	0.90[CHB][hapmap]
rs8010541	0.89[ASN][1000 genomes]
rs8011337	0.90[CHB][hapmap]
rs8015645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016447	0.90[CHB][hapmap]
rs8022516	0.90[ASN][1000 genomes]
rs9323649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9323650	0.90[CHB][hapmap]
rs9323651	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9788619	0.84[AMR][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	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3693172	chr14:78130479-78152921	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
3	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:78137800-78148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
8	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:78138200-78148400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:78138200-78154400	Strong transcription	Dnd41	blood
11	chr14:78140200-78156600	Weak transcription	K562	blood
12	chr14:78140400-78157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:78140400-78160400	Weak transcription	Fetal Kidney	kidney
14	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:78140600-78158600	Weak transcription	Esophagus	oesophagus
16	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:78141200-78153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:78141200-78160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
20	chr14:78141400-78148600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:78141400-78156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:78141400-78156600	Weak transcription	Brain Substantia Nigra	brain
23	chr14:78141400-78157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:78141600-78155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:78141600-78156600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:78142200-78156600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:78142200-78157600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:78142200-78161200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:78142400-78154200	Weak transcription	GM12878-XiMat	blood
30	chr14:78142600-78162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:78142800-78148800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:78142800-78155800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:78143000-78152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:78143800-78149400	Weak transcription	Thymus	Thymus
36	chr14:78144600-78148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:78144600-78148400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:78145000-78151000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:78145400-78158600	Weak transcription	Spleen	Spleen
40	chr14:78145600-78148400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:78146200-78148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:78146200-78150200	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:78146200-78152800	Weak transcription	Brain Germinal Matrix	brain
44	chr14:78146400-78149200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:78146400-78150200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:78146400-78150400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:78146400-78152600	Weak transcription	Fetal Brain Female	brain
48	chr14:78146400-78153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:78146400-78157800	Weak transcription	Fetal Lung	lung
50	chr14:78146400-78160000	Weak transcription	Brain Hippocampus Middle	brain

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