Variant report

Variant	rs970623
Chromosome Location	chr14:39485896-39485897
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10132034	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10132953	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10149829	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11157046	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12895329	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1950509	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1955917	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2038357	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2180214	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2180217	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3899404	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4616209	0.80[EUR][1000 genomes]
rs4899139	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899140	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902294	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902402	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902419	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6571886	0.80[ASN][1000 genomes]
rs6571888	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571889	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571890	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571891	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571894	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571895	0.84[AMR][1000 genomes]
rs6571896	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7143480	0.80[ASN][1000 genomes]
rs7154585	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7157204	0.86[AMR][1000 genomes]
rs761804	0.80[EUR][1000 genomes]
rs761806	0.82[EUR][1000 genomes]
rs761807	0.82[EUR][1000 genomes]
rs8003194	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003485	0.82[EUR][1000 genomes]
rs8003807	0.80[EUR][1000 genomes]
rs8004480	0.80[ASN][1000 genomes]
rs8011855	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8012178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014021	0.93[ASN][1000 genomes]
rs8014255	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9322993	0.82[EUR][1000 genomes]
rs9671927	0.82[EUR][1000 genomes]
rs975591	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:39464800-39492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:39465600-39498200	Weak transcription	NH-A	brain
4	chr14:39469200-39497400	Weak transcription	HSMM	muscle
5	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:39479000-39493000	Weak transcription	A549	lung
7	chr14:39479600-39498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:39479800-39492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:39480200-39499000	Weak transcription	NHDF-Ad	bronchial
10	chr14:39481200-39486400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:39481200-39492600	Weak transcription	Fetal Intestine Small	intestine
12	chr14:39482200-39486000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:39482200-39495000	Weak transcription	HUVEC	blood vessel
14	chr14:39482800-39499200	Weak transcription	Right Ventricle	heart
15	chr14:39483000-39486400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:39483600-39486400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:39483800-39492600	Weak transcription	Osteobl	bone
18	chr14:39484400-39486000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:39484800-39486800	Enhancers	Liver	Liver
20	chr14:39485000-39486000	Enhancers	HepG2	liver
21	chr14:39485200-39486000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:39485200-39486000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:39485200-39486200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr14:39485200-39498600	Weak transcription	Aorta	Aorta
25	chr14:39485400-39486200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:39485400-39486400	Strong transcription	HSMMtube	muscle
27	chr14:39485600-39486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:39485600-39486200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:39485600-39486200	Enhancers	Stomach Mucosa	stomach
30	chr14:39485600-39487000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr14:39485800-39486000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:39485800-39486200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:39485800-39487200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:39485800-39487200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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