Variant report

Variant	rs972329
Chromosome Location	chr4:128422132-128422133
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10025576	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098924	0.93[EUR][1000 genomes]
rs11098926	0.86[EUR][1000 genomes]
rs11737101	0.81[EUR][1000 genomes]
rs11737108	0.84[EUR][1000 genomes]
rs13125571	0.95[ASN][1000 genomes]
rs13145532	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355924	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399215	0.87[EUR][1000 genomes]
rs1514300	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514301	0.86[EUR][1000 genomes]
rs2002543	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs2090103	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs2203374	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833378	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6815196	0.95[CEU][hapmap]
rs6817788	0.87[EUR][1000 genomes]
rs7653949	0.85[EUR][1000 genomes]
rs908009	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs979051	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128419200-128422400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:128419800-128422800	Enhancers	Fetal Heart	heart
3	chr4:128421600-128422800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:128421600-128423000	Enhancers	Fetal Lung	lung
5	chr4:128421800-128422600	Enhancers	Ovary	ovary
6	chr4:128421800-128422800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:128421800-128422800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:128421800-128422800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:128421800-128422800	Enhancers	NH-A	brain
10	chr4:128421800-128424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:128422000-128422200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:128422000-128422600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:128422000-128422600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:128422000-128422600	Enhancers	Fetal Muscle Leg	muscle
15	chr4:128422000-128422600	Enhancers	Left Ventricle	heart
16	chr4:128422000-128422600	Enhancers	Right Ventricle	heart
17	chr4:128422000-128422800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:128422000-128422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:128422000-128422800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:128422000-128423000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:128422000-128423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:128422000-128424800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:128422000-128424800	Enhancers	NHDF-Ad	bronchial
24	chr4:128422000-128426000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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