Variant report

Variant	rs6851269
Chromosome Location	chr4:128422759-128422760
allele	G/T
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	0.98[ASN][1000 genomes]
rs11098926	0.91[ASN][1000 genomes]
rs11737101	0.86[ASN][1000 genomes]
rs12500373	0.81[ASN][1000 genomes]
rs12505420	0.82[ASN][1000 genomes]
rs12506112	0.82[ASN][1000 genomes]
rs12641215	1.00[CEU][hapmap];0.93[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];0.94[ASN][1000 genomes]
rs12644377	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap]
rs13136353	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13147738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1399215	0.91[ASN][1000 genomes]
rs1514301	0.91[ASN][1000 genomes]
rs1514303	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1514304	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1514306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1514307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1514308	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1514309	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1913463	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2002543	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs2007243	1.00[JPT][hapmap]
rs2090103	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2137866	0.81[ASN][1000 genomes]
rs58348395	0.81[ASN][1000 genomes]
rs6815196	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6817525	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6817788	0.91[ASN][1000 genomes]
rs72621856	0.81[ASN][1000 genomes]
rs7439365	0.84[JPT][hapmap]
rs7653949	0.93[ASN][1000 genomes]
rs979051	0.93[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	chr4:128419800-128422800	Enhancers	Fetal Heart	heart
2	chr4:128421600-128422800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:128421600-128423000	Enhancers	Fetal Lung	lung
4	chr4:128421800-128422800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:128421800-128422800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:128421800-128422800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:128421800-128422800	Enhancers	NH-A	brain
8	chr4:128421800-128424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:128422000-128422800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:128422000-128422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:128422000-128422800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:128422000-128423000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:128422000-128423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:128422000-128424800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:128422000-128424800	Enhancers	NHDF-Ad	bronchial
16	chr4:128422000-128426000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:128422200-128422800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:128422200-128422800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:128422200-128423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:128422400-128422800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:128422400-128422800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:128422400-128423000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:128422400-128423200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:128422600-128422800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:128422600-128426400	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:128422600-128426400	Weak transcription	K562	blood
27	chr4:128422600-128427000	Weak transcription	Left Ventricle	heart
28	chr4:128422600-128427000	Weak transcription	Ovary	ovary
29	chr4:128422600-128427000	Weak transcription	Right Ventricle	heart
30	chr4:128422600-128427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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