Variant report

Variant	rs2679125
Chromosome Location	chr4:147302830-147302831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2679144	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
2	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:147300600-147328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:147301200-147303200	Weak transcription	Stomach Mucosa	stomach
5	chr4:147302200-147303200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:147302200-147303200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:147302200-147303200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:147302200-147303200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:147302400-147303000	Enhancers	GM12878-XiMat	blood
10	chr4:147302400-147303000	Enhancers	HUVEC	blood vessel
11	chr4:147302400-147303000	Enhancers	Osteobl	bone
12	chr4:147302400-147303200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr4:147302400-147303200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:147302400-147303200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:147302400-147303200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:147302400-147303400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:147302600-147303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:147302600-147303000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:147302600-147303000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:147302600-147303000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:147302600-147303000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:147302600-147303000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:147302600-147303000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:147302600-147303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:147302600-147303000	Enhancers	NH-A	brain
26	chr4:147302600-147303600	Enhancers	NHDF-Ad	bronchial
27	chr4:147302800-147303000	Enhancers	Gastric	stomach
28	chr4:147302800-147303400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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