Variant report

Variant	rs2025214
Chromosome Location	chr14:81949014-81949015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10135007	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10141903	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11159502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11847098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12889565	0.81[ASN][1000 genomes]
rs12890754	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893669	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12893863	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs12897062	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1885598	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs1885599	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap]
rs1951605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1951609	0.86[CEU][hapmap]
rs2236179	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs28455614	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4584759	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4903983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903984	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4903985	0.86[CEU][hapmap]
rs7150294	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7150676	0.87[ASN][1000 genomes]
rs7401055	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	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
2	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81931400-81955000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:81938000-81952800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:81938000-81954600	Weak transcription	Fetal Heart	heart
4	chr14:81938400-81971000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:81938400-81973400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:81938400-81974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:81938400-81977000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:81938600-81955000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:81938600-81959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:81938600-81963400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:81938800-81977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:81939600-81960000	Weak transcription	Stomach Mucosa	stomach
13	chr14:81939600-81974600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr14:81940000-81971200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:81940600-81975000	Strong transcription	Liver	Liver
16	chr14:81941200-81949200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:81941200-81955800	Strong transcription	Left Ventricle	heart
18	chr14:81941200-81957000	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:81941200-81973800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:81941200-81973800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:81941400-81972200	Strong transcription	Fetal Intestine Large	intestine
22	chr14:81941400-81972400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:81941400-81975600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:81941600-81955000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:81941600-81974600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:81941600-81975000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:81941600-81975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:81941800-81975000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:81942000-81975000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:81942000-81976600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:81942400-81957400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:81942600-81949200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:81942600-81975000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:81943400-81976400	Strong transcription	Dnd41	blood
36	chr14:81943600-81950200	Weak transcription	Brain Angular Gyrus	brain
37	chr14:81943600-81977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:81944000-81950000	Weak transcription	Brain Germinal Matrix	brain
39	chr14:81944600-81971800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr14:81944800-81958200	Strong transcription	HSMM	muscle
41	chr14:81945200-81950200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:81945200-81953400	Weak transcription	K562	blood
43	chr14:81945400-81950200	Weak transcription	Fetal Kidney	kidney
44	chr14:81945600-81950400	Weak transcription	Hela-S3	cervix
45	chr14:81945800-81950400	Weak transcription	A549	lung
46	chr14:81946000-81950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:81946000-81950200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:81946000-81950400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:81946000-81950400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:81946000-81951600	Weak transcription	Placenta Amnion	Placenta Amnion

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