Variant report

Variant	rs11628888
Chromosome Location	chr14:78161506-78161507
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	chr14:78154902..78157817-chr14:78159503..78162489,4	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006038	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes]
rs1006039	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap]
rs1006040	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1008988	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs10136053	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10139492	0.85[CHB][hapmap]
rs10142722	0.82[ASW][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.84[AMR][1000 genomes]
rs10143294	0.85[CHB][hapmap]
rs10144448	0.85[CHB][hapmap]
rs1048147	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10483885	0.85[CHB][hapmap]
rs11159288	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs114763	0.85[CHB][hapmap]
rs11623088	0.81[AMR][1000 genomes]
rs11624101	0.93[AMR][1000 genomes]
rs11847025	0.81[AMR][1000 genomes]
rs12435761	0.80[ASN][1000 genomes]
rs12885306	0.85[CHB][hapmap]
rs12887282	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12887606	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12890728	0.90[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs13379065	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1477259	0.81[EUR][1000 genomes]
rs1477260	0.81[EUR][1000 genomes]
rs1477261	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1477262	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1477264	0.85[CHB][hapmap]
rs1549119	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17106157	0.93[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs176941	0.85[CHB][hapmap]
rs176943	0.84[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176944	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176946	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176951	0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176952	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176953	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs176955	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176956	0.85[CHB][hapmap]
rs176957	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs176959	0.85[CHB][hapmap]
rs176960	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176962	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176963	0.85[CHB][hapmap]
rs176964	0.95[CHB][hapmap]
rs176965	0.85[CHB][hapmap]
rs176966	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176971	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176973	0.83[ASN][1000 genomes]
rs176979	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176980	0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1978416	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1984925	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2032781	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052444	0.82[MEX][hapmap]
rs2112136	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2267756	0.85[CHB][hapmap]
rs2267758	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2267759	0.93[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2267760	0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2267761	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]
rs2267762	0.85[CHB][hapmap]
rs2267763	0.85[CHB][hapmap]
rs2267764	0.85[CHB][hapmap]
rs2267767	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267768	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2277917	0.85[CHB][hapmap]
rs2284234	0.85[CHB][hapmap]
rs2284235	0.85[CHB][hapmap]
rs2299930	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2364584	0.84[ASN][1000 genomes]
rs2544567	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28534379	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28603114	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35204328	0.83[ASN][1000 genomes]
rs3759728	0.93[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3783980	1.00[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3783983	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4383070	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4632066	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4899670	0.85[CHB][hapmap]
rs4899673	0.85[CHB][hapmap]
rs4903643	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55909252	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56017708	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56412551	0.82[ASN][1000 genomes]
rs57635466	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59848135	0.84[AMR][1000 genomes]
rs61993668	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574388	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6574391	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6574399	0.85[CHB][hapmap]
rs6574402	0.84[AMR][1000 genomes]
rs6574404	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7142390	0.93[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7143926	0.85[CHB][hapmap]
rs7146020	0.82[MEX][hapmap]
rs7147516	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7148078	0.81[CHB][hapmap]
rs7151211	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7151685	0.85[CHB][hapmap]
rs717683	0.80[EUR][1000 genomes]
rs72210300	0.81[ASN][1000 genomes]
rs72685264	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs759713	0.85[CHB][hapmap]
rs759808	0.81[EUR][1000 genomes]
rs8003691	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8003979	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8011337	0.86[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap]
rs8014635	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015645	0.85[CHB][hapmap]
rs8016175	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8016447	0.84[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8018971	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9323649	0.85[CHB][hapmap]
rs9323650	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.92[TSI][hapmap]
rs9323651	0.85[CHB][hapmap]
rs9788540	0.87[AMR][1000 genomes]
rs9788570	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
8	chr14:78142600-78162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:78146400-78161800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:78148400-78162800	Weak transcription	Aorta	Aorta
12	chr14:78148400-78162800	Weak transcription	Pancreas	Pancrea
13	chr14:78148400-78164400	Weak transcription	Psoas Muscle	Psoas
14	chr14:78148600-78162800	Weak transcription	NHLF	lung
15	chr14:78149200-78163800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:78149200-78171400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:78149800-78163000	Weak transcription	Stomach Mucosa	stomach
18	chr14:78149800-78164200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:78150200-78163800	Strong transcription	Fetal Muscle Leg	muscle
20	chr14:78150400-78172200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:78152200-78164200	Strong transcription	Liver	Liver
22	chr14:78152200-78164600	Strong transcription	Adipose Nuclei	Adipose
23	chr14:78152400-78171200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:78152600-78172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:78152800-78165400	Strong transcription	Placenta	Placenta
26	chr14:78152800-78171400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:78153400-78163000	Weak transcription	Right Ventricle	heart
28	chr14:78153400-78171200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:78153400-78171400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:78153400-78172000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr14:78154400-78162600	Weak transcription	HSMMtube	muscle
32	chr14:78154400-78168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
34	chr14:78154600-78167200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:78155400-78163600	Strong transcription	HSMM	muscle
36	chr14:78155400-78163800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:78155600-78163800	Strong transcription	Fetal Brain Female	brain
38	chr14:78155600-78164000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:78155600-78164800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:78155800-78163800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:78155800-78165600	Strong transcription	Primary T cells from cord blood	blood
42	chr14:78156000-78171400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:78156200-78163800	Strong transcription	Fetal Thymus	thymus
44	chr14:78156200-78164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:78156200-78165000	Strong transcription	Primary B cells from cord blood	blood
46	chr14:78156200-78165200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:78156200-78165800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:78156200-78172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:78156400-78161600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:78156400-78162200	Strong transcription	Rectal Mucosa Donor 31	rectum

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