Variant report

Variant	rs2335713
Chromosome Location	chr16:71904291-71904292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71903459..71905308-chr16:71929420..71930996,2	MCF-7	breast:
2	chr16:71904035..71905862-chr16:71912738..71914421,2	MCF-7	breast:
3	chr16:71896567..71899503-chr16:71901717..71904863,3	K562	blood:
4	chr16:71902712..71905224-chr16:71915459..71917977,2	MCF-7	breast:
5	chr16:71841575..71843307-chr16:71901661..71904621,2	K562	blood:
6	chr16:71879010..71881429-chr16:71904099..71905621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102984	Chromatin interaction
ENSG00000261765	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11075908	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075911	0.86[EUR][1000 genomes]
rs11648353	0.85[EUR][1000 genomes]
rs11648530	0.86[EUR][1000 genomes]
rs11649672	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11859903	1.00[JPT][hapmap]
rs12102548	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444829	0.93[EUR][1000 genomes]
rs12447045	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449139	0.93[EUR][1000 genomes]
rs12599192	0.87[EUR][1000 genomes]
rs12921084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12926041	0.89[EUR][1000 genomes]
rs12926300	0.87[EUR][1000 genomes]
rs12930744	0.85[EUR][1000 genomes]
rs12935795	0.84[EUR][1000 genomes]
rs13329779	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1834034	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1834035	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1981874	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008675	0.83[EUR][1000 genomes]
rs2018384	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288029	0.95[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288031	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335709	0.93[EUR][1000 genomes]
rs2335710	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335712	1.00[CEU][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335714	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335715	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28697038	0.91[EUR][1000 genomes]
rs2878492	0.86[EUR][1000 genomes]
rs3794692	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788446	0.84[EUR][1000 genomes]
rs4788447	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788449	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788562	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788563	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4788564	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788566	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788570	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788571	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788573	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788576	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788581	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4788582	0.87[EUR][1000 genomes]
rs4788584	0.86[EUR][1000 genomes]
rs4788585	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs62053803	0.86[EUR][1000 genomes]
rs6499542	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6499545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499551	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6499552	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6558	1.00[JPT][hapmap]
rs7184437	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7184486	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7186890	1.00[JPT][hapmap]
rs7187129	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7193731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204708	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7205154	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8044342	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8046859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8050488	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8050651	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8051038	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8054111	0.83[EUR][1000 genomes]
rs8054175	0.83[EUR][1000 genomes]
rs8054403	0.82[EUR][1000 genomes]
rs8057124	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8058118	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8059053	0.93[EUR][1000 genomes]
rs8062946	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8063324	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs8063403	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9302631	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9302632	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9806882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806905	0.84[EUR][1000 genomes]
rs9888748	0.84[EUR][1000 genomes]
rs9889011	0.84[EUR][1000 genomes]
rs9921412	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs9932922	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9934803	0.87[EUR][1000 genomes]
rs9934812	0.87[EUR][1000 genomes]
rs9937936	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
2	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
8	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
9	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
10	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
11	chr16:71888000-71916400	Weak transcription	NHEK	skin
12	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:71890200-71913000	Weak transcription	Osteobl	bone
14	chr16:71891000-71914000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr16:71891400-71905400	Strong transcription	Fetal Lung	lung
16	chr16:71891400-71906600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr16:71892600-71904400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr16:71893000-71905200	Strong transcription	Brain Anterior Caudate	brain
19	chr16:71893200-71911000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:71893400-71904800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:71895000-71904400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:71896000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr16:71896000-71913800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:71896800-71916600	Weak transcription	NHLF	lung
27	chr16:71897800-71915600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
30	chr16:71898400-71912400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
32	chr16:71898600-71912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr16:71898800-71912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:71898800-71914200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:71899000-71906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr16:71899000-71909000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr16:71899000-71910400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr16:71899000-71912800	Weak transcription	Left Ventricle	heart
41	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:71899000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:71899000-71913600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:71899000-71914200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr16:71899000-71916600	Weak transcription	Esophagus	oesophagus
47	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
48	chr16:71899200-71914200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr16:71899400-71906200	Weak transcription	Fetal Thymus	thymus
50	chr16:71899400-71908600	Weak transcription	Placenta	Placenta

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