Variant report

Variant	rs72676387
Chromosome Location	chr4:121647935-121647936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121646983..121649694-chr4:121650404..121652066,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17051238	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17051239	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1826810	0.96[EUR][1000 genomes]
rs724818	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121620800-121654400	Weak transcription	Left Ventricle	heart
2	chr4:121620800-121671400	Weak transcription	Pancreas	Pancrea
3	chr4:121625600-121657600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:121626000-121658200	Weak transcription	Aorta	Aorta
5	chr4:121630000-121671400	Weak transcription	Ovary	ovary
6	chr4:121641200-121670400	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:121641400-121669600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:121641600-121652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:121642800-121670600	Weak transcription	Fetal Stomach	stomach
10	chr4:121644200-121658200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:121644400-121653000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:121644400-121654400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:121645600-121648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:121645600-121648800	Enhancers	Fetal Heart	heart
15	chr4:121645800-121662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:121646400-121648000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:121646600-121648000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:121647000-121648200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:121647200-121648000	Enhancers	Fetal Thymus	thymus
20	chr4:121647200-121652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:121647200-121652200	Weak transcription	Psoas Muscle	Psoas
22	chr4:121647200-121652600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:121647200-121671400	Weak transcription	Fetal Lung	lung
24	chr4:121647400-121652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:121647400-121670600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:121647800-121648000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:121647800-121648400	Enhancers	Adipose Nuclei	Adipose

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