Variant report

Variant	rs17105780
Chromosome Location	chr14:68993682-68993683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:7052631..7053153-chr14:68993272..68993773,2	Hela-S3	cervix:
2	chr14:68990794..68994075-chr14:69256455..69260885,5	MCF-7	breast:
3	chr14:68982120..68984316-chr14:68992913..68995083,2	MCF-7	breast:
4	chr14:68987292..68989067-chr14:68991224..68994887,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111678	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10483812	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11621276	0.82[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11624097	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11624164	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11624333	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11844632	0.90[ASN][1000 genomes]
rs12889251	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17105847	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17755925	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17756000	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17828907	0.81[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17828955	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2158357	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs34636650	0.95[ASN][1000 genomes]
rs34882439	0.90[ASN][1000 genomes]
rs36028293	0.95[ASN][1000 genomes]
rs71423314	0.89[ASN][1000 genomes]
rs71423316	0.95[ASN][1000 genomes]
rs71423317	0.95[ASN][1000 genomes]
rs71423318	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68985800-68994800	Weak transcription	Aorta	Aorta
2	chr14:68987400-68996200	Enhancers	Pancreas	Pancrea
3	chr14:68988600-68993800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:68989800-68993800	Weak transcription	Primary B cells from cord blood	blood
5	chr14:68990000-68994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:68990000-68995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:68990000-68995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:68990000-68996000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:68990200-68993800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:68990200-68993800	Enhancers	HSMMtube	muscle
11	chr14:68991200-68994000	Weak transcription	Fetal Lung	lung
12	chr14:68991600-68994400	Enhancers	Lung	lung
13	chr14:68991800-68994000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:68991800-68994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:68991800-68994200	Weak transcription	Thymus	Thymus
16	chr14:68992000-68994000	Weak transcription	NHLF	lung
17	chr14:68992400-68994600	Weak transcription	Primary T cells from cord blood	blood
18	chr14:68992600-68996000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:68993000-68993800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:68993000-68993800	Enhancers	Stomach Mucosa	stomach
21	chr14:68993000-68993800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:68993000-68994000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr14:68993000-68994000	Flanking Active TSS	Hela-S3	cervix
24	chr14:68993000-68994200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr14:68993000-68994200	Enhancers	NHEK	skin
26	chr14:68993000-68994400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:68993000-68994400	Enhancers	HMEC	breast
28	chr14:68993000-68994400	Enhancers	NHDF-Ad	bronchial
29	chr14:68993000-68994600	Enhancers	A549	lung
30	chr14:68993000-68994600	Enhancers	NH-A	brain
31	chr14:68993000-68995000	Enhancers	Fetal Intestine Large	intestine
32	chr14:68993000-68995000	Enhancers	Fetal Kidney	kidney
33	chr14:68993000-68995800	Enhancers	Liver	Liver
34	chr14:68993200-68993800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:68993200-68993800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:68993200-68993800	Genic enhancers	Fetal Intestine Small	intestine
37	chr14:68993200-68993800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr14:68993200-68994200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:68993200-68994200	Enhancers	Brain Anterior Caudate	brain
40	chr14:68993200-68994200	Enhancers	Esophagus	oesophagus
41	chr14:68993200-68994400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:68993200-68994400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:68993200-68994400	Enhancers	Adipose Nuclei	Adipose
44	chr14:68993200-68994400	Enhancers	Brain Substantia Nigra	brain
45	chr14:68993200-68994400	Enhancers	Colonic Mucosa	Colon
46	chr14:68993200-68994400	Enhancers	Fetal Muscle Leg	muscle
47	chr14:68993200-68994400	Enhancers	Placenta	Placenta
48	chr14:68993200-68994400	Enhancers	Left Ventricle	heart
49	chr14:68993200-68994400	Enhancers	Psoas Muscle	Psoas
50	chr14:68993200-68994600	Enhancers	Skeletal Muscle Female	skeletal muscle

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