Variant report

Variant	rs17111815
Chromosome Location	chr14:81891986-81891987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81685776..81687445-chr14:81891086..81893956,2	K562	blood:
2	chr14:81882721..81884801-chr14:81890503..81892167,2	K562	blood:
3	chr14:81685512..81688404-chr14:81891914..81896329,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11159500	0.82[JPT][hapmap]
rs12100962	0.82[JPT][hapmap]
rs12100967	0.82[JPT][hapmap]
rs12101219	0.96[CHD][hapmap];0.82[JPT][hapmap]
rs12586522	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs12586611	0.94[ASN][1000 genomes]
rs12586817	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12589111	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12589750	1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.94[ASN][1000 genomes]
rs12590539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17111794	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17111807	1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs17111817	1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs17111825	0.80[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs17111826	0.85[MEX][hapmap]
rs17111839	1.00[CHD][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap]
rs17111840	1.00[CHD][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap]
rs17111848	0.91[JPT][hapmap]
rs2371601	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs28409508	0.81[ASN][1000 genomes]
rs34922883	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3853422	0.90[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs3900647	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs57035224	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58535387	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59919809	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60733078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs731389	0.96[CHD][hapmap];0.82[JPT][hapmap]
rs731390	0.82[JPT][hapmap]
rs73344113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73344115	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73344119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73344121	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344128	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73344133	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv1807931	chr14:81878972-81908605	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1842834	chr14:81878972-81908605	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv1844298	chr14:81878972-81908605	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:81874800-81892600	Weak transcription	Hela-S3	cervix
7	chr14:81881000-81892000	Weak transcription	HMEC	breast
8	chr14:81883000-81893000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:81885200-81893600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81885200-81893600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:81886200-81893600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:81886200-81894000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:81886400-81893600	Weak transcription	Gastric	stomach
14	chr14:81886600-81892000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:81886600-81893600	Weak transcription	NHEK	skin
16	chr14:81886800-81893600	Weak transcription	Esophagus	oesophagus
17	chr14:81886800-81894000	Weak transcription	Fetal Intestine Small	intestine
18	chr14:81887400-81892400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:81887400-81893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:81887600-81893400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:81888200-81892000	Enhancers	Primary hematopoietic stem cells	blood
22	chr14:81888600-81893400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:81888800-81893600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:81890000-81893600	Weak transcription	Fetal Kidney	kidney
25	chr14:81890200-81892800	Weak transcription	Brain Germinal Matrix	brain
26	chr14:81890200-81893800	Weak transcription	Fetal Stomach	stomach
27	chr14:81890200-81894200	Weak transcription	Brain Substantia Nigra	brain
28	chr14:81890400-81893200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:81890400-81893400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:81890400-81893400	Weak transcription	Ovary	ovary
31	chr14:81890400-81893400	Weak transcription	HSMMtube	muscle
32	chr14:81890400-81893600	Weak transcription	Adipose Nuclei	Adipose
33	chr14:81890400-81893600	Weak transcription	Liver	Liver
34	chr14:81890400-81893600	Weak transcription	HSMM	muscle
35	chr14:81890400-81893600	Weak transcription	NHDF-Ad	bronchial
36	chr14:81890400-81893800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:81890400-81893800	Weak transcription	Fetal Lung	lung
38	chr14:81890400-81894000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:81890400-81896400	Weak transcription	Right Atrium	heart
40	chr14:81890600-81892400	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:81890600-81892400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:81890600-81892800	Weak transcription	Psoas Muscle	Psoas
43	chr14:81890600-81893600	Weak transcription	Spleen	Spleen
44	chr14:81890600-81893800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:81890600-81894000	Weak transcription	Brain Anterior Caudate	brain
46	chr14:81890800-81893600	Weak transcription	Placenta	Placenta
47	chr14:81890800-81893800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:81891000-81892400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:81891200-81892800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:81891200-81892800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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