Variant report

Variant	rs34994562
Chromosome Location	chr14:64616643-64616644
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10047814	0.87[ASN][1000 genomes]
rs10047901	0.90[ASN][1000 genomes]
rs10136099	1.00[ASN][1000 genomes]
rs10136662	0.93[ASN][1000 genomes]
rs10137370	0.90[ASN][1000 genomes]
rs10137426	0.85[ASN][1000 genomes]
rs10137665	0.97[ASN][1000 genomes]
rs10142318	0.93[ASN][1000 genomes]
rs10142480	0.93[ASN][1000 genomes]
rs10151446	0.90[ASN][1000 genomes]
rs11158531	0.94[ASN][1000 genomes]
rs11158532	0.93[ASN][1000 genomes]
rs11849394	0.90[ASN][1000 genomes]
rs12147438	0.93[ASN][1000 genomes]
rs12587140	0.86[ASN][1000 genomes]
rs12587924	0.85[ASN][1000 genomes]
rs12590062	0.94[ASN][1000 genomes]
rs2184288	0.94[ASN][1000 genomes]
rs45472593	0.94[ASN][1000 genomes]
rs57018718	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57034528	0.81[ASN][1000 genomes]
rs7140578	0.85[ASN][1000 genomes]
rs7158393	0.94[ASN][1000 genomes]
rs7159213	0.90[ASN][1000 genomes]
rs7160091	0.94[ASN][1000 genomes]
rs7161361	0.85[ASN][1000 genomes]
rs8003196	0.94[ASN][1000 genomes]
rs8021831	0.85[ASN][1000 genomes]
rs8023139	0.94[ASN][1000 genomes]
rs9323446	0.85[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:64581800-64650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:64583400-64649000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr14:64583600-64638000	Strong transcription	Placenta	Placenta
7	chr14:64584600-64623000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:64586000-64649000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:64586400-64631800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:64590200-64634000	Weak transcription	HepG2	liver
11	chr14:64591000-64649000	Strong transcription	Liver	Liver
12	chr14:64594600-64653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:64594800-64619600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:64596400-64653000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:64597000-64626400	Weak transcription	Psoas Muscle	Psoas
16	chr14:64600600-64667400	Weak transcription	Stomach Mucosa	stomach
17	chr14:64606200-64627200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr14:64606200-64647200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:64606600-64623000	Strong transcription	Thymus	Thymus
20	chr14:64608800-64623200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:64609800-64619600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:64609800-64633200	Weak transcription	Small Intestine	intestine
23	chr14:64609800-64636600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:64609800-64653000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:64610400-64619400	Weak transcription	Fetal Thymus	thymus
26	chr14:64610600-64619400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:64610600-64619600	Weak transcription	HMEC	breast
28	chr14:64610600-64622200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:64610600-64625400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:64610600-64651000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:64611000-64619400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:64611200-64619400	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:64611400-64619200	Weak transcription	Fetal Kidney	kidney
34	chr14:64611400-64619600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:64612600-64640000	Strong transcription	Dnd41	blood
36	chr14:64612800-64620400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:64612800-64640000	Strong transcription	Primary T cells from cord blood	blood
38	chr14:64613200-64619200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:64613600-64619200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:64613600-64619800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:64613800-64619400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:64613800-64635400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:64614000-64619200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:64614000-64619400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:64614000-64619800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:64614000-64626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:64614000-64628800	Weak transcription	Right Ventricle	heart
48	chr14:64614000-64635600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:64614200-64618000	Weak transcription	Ovary	ovary
50	chr14:64614200-64618600	Weak transcription	Pancreas	Pancrea

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