Variant report

Variant	rs1514307
Chromosome Location	chr4:128423718-128423719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11098924	0.99[ASN][1000 genomes]
rs11098926	0.92[ASN][1000 genomes]
rs11737101	0.87[ASN][1000 genomes]
rs12500373	0.82[ASN][1000 genomes]
rs12505420	0.83[ASN][1000 genomes]
rs12506112	0.83[ASN][1000 genomes]
rs12641215	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12644377	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap]
rs13136353	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13147738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399215	0.92[ASN][1000 genomes]
rs1514301	0.92[ASN][1000 genomes]
rs1514303	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1514304	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1514306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514308	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1514309	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913463	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002543	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs2007243	0.95[JPT][hapmap]
rs2090103	1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2137866	0.82[ASN][1000 genomes]
rs58348395	0.82[ASN][1000 genomes]
rs6815196	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6817525	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6817788	0.93[ASN][1000 genomes]
rs6851269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621856	0.82[ASN][1000 genomes]
rs7439365	0.85[JPT][hapmap]
rs7653949	0.94[ASN][1000 genomes]
rs979051	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1015564	chr4:128394657-128506962	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017325	chr4:128408370-128509276	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv595387	chr4:128410916-128523964	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128421800-128424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:128422000-128424800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:128422000-128424800	Enhancers	NHDF-Ad	bronchial
4	chr4:128422000-128426000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:128422600-128426400	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:128422600-128426400	Weak transcription	K562	blood
7	chr4:128422600-128427000	Weak transcription	Left Ventricle	heart
8	chr4:128422600-128427000	Weak transcription	Ovary	ovary
9	chr4:128422600-128427000	Weak transcription	Right Ventricle	heart
10	chr4:128422600-128427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:128422800-128423800	Weak transcription	NH-A	brain
12	chr4:128422800-128424000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:128422800-128424000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:128422800-128424200	Weak transcription	Fetal Heart	heart
15	chr4:128422800-128425800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:128422800-128426200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:128422800-128426400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:128422800-128428600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:128423200-128424000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:128423400-128424400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:128423400-128424600	Enhancers	Fetal Lung	lung
22	chr4:128423400-128424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:128423400-128425000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:128423400-128425000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:128423600-128424400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:128423600-128424800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:128423600-128424800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:128423600-128424800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:128423600-128424800	Enhancers	NHLF	lung
30	chr4:128423600-128426200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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