Variant report

Variant	rs2267761
Chromosome Location	chr14:78147849-78147850
allele	C/G
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: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1006038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1006039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1006040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1008988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10136053	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139492	0.91[CHB][hapmap]
rs10142722	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10143294	0.91[CHB][hapmap]
rs10144448	0.90[CHB][hapmap]
rs1048147	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];1.00[ASN][1000 genomes]
rs10483885	0.90[CHB][hapmap]
rs11159288	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs114763	0.91[CHB][hapmap]
rs11623088	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11624101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11628888	0.93[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12435761	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12885306	0.90[CHB][hapmap]
rs12887282	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12887606	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890728	0.95[CHB][hapmap]
rs13379065	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477259	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477260	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477261	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1477262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477264	0.90[CHB][hapmap]
rs1549119	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176941	0.90[CHB][hapmap]
rs176943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176944	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176952	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176953	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs176955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176956	0.91[CHB][hapmap]
rs176957	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs176959	0.90[CHB][hapmap]
rs176960	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176962	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176963	0.91[CHB][hapmap]
rs176964	1.00[CHB][hapmap]
rs176965	0.90[CHB][hapmap]
rs176966	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176971	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176973	0.86[ASN][1000 genomes]
rs176979	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1978416	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1984925	0.87[ASN][1000 genomes]
rs2032781	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2112136	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267756	0.90[CHB][hapmap]
rs2267758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267760	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2267762	0.90[CHB][hapmap]
rs2267763	0.91[CHB][hapmap]
rs2267764	0.91[CHB][hapmap]
rs2267766	0.89[ASN][1000 genomes]
rs2267767	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267768	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2277917	0.91[CHB][hapmap]
rs2284234	0.90[CHB][hapmap]
rs2284235	0.90[CHB][hapmap]
rs2299930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2364584	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544567	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28534379	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28603114	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35204328	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783983	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383070	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4632066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4899670	0.90[CHB][hapmap]
rs4899673	0.90[CHB][hapmap]
rs4903643	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55909252	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56017708	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56412551	1.00[ASN][1000 genomes]
rs57635466	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59848135	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61992862	0.88[ASN][1000 genomes]
rs61992866	0.89[ASN][1000 genomes]
rs61993668	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574391	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574399	0.91[CHB][hapmap]
rs6574402	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574404	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs7142390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7143926	0.91[CHB][hapmap]
rs7147516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7148078	0.86[CHB][hapmap]
rs7151211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7151685	0.90[CHB][hapmap]
rs717683	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72210300	0.81[ASN][1000 genomes]
rs72685264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs759713	0.91[CHB][hapmap]
rs759808	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8003691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8003979	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8011337	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8014635	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015645	0.91[CHB][hapmap]
rs8016175	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8016447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8018971	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9323649	0.91[CHB][hapmap]
rs9323650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9323651	0.90[CHB][hapmap]
rs9788540	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9788570	0.86[AMR][1000 genomes];0.85[EUR][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	chr14:78134200-78148000	Weak transcription	NH-A	brain
4	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:78136200-78148000	Weak transcription	HSMMtube	muscle
7	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:78137800-78148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
10	chr14:78138000-78148000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:78138200-78148400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:78138200-78154400	Strong transcription	Dnd41	blood
14	chr14:78140200-78156600	Weak transcription	K562	blood
15	chr14:78140400-78157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:78140400-78160400	Weak transcription	Fetal Kidney	kidney
17	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:78140600-78158600	Weak transcription	Esophagus	oesophagus
19	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:78141200-78153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:78141200-78160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
23	chr14:78141400-78148600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:78141400-78156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:78141400-78156600	Weak transcription	Brain Substantia Nigra	brain
26	chr14:78141400-78157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:78141600-78148000	Weak transcription	A549	lung
28	chr14:78141600-78148000	Weak transcription	NHLF	lung
29	chr14:78141600-78148200	Weak transcription	NHDF-Ad	bronchial
30	chr14:78141600-78155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:78141600-78156600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:78142200-78148000	Weak transcription	Aorta	Aorta
33	chr14:78142200-78148000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:78142200-78148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:78142200-78156600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:78142200-78157600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:78142200-78161200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:78142400-78154200	Weak transcription	GM12878-XiMat	blood
39	chr14:78142600-78148000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:78142600-78162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:78142800-78148800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr14:78142800-78155800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:78143000-78152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:78143800-78149400	Weak transcription	Thymus	Thymus
46	chr14:78144600-78148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:78144600-78148400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:78145000-78151000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:78145400-78158600	Weak transcription	Spleen	Spleen
50	chr14:78145600-78148400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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