Variant report

Variant	rs62272229
Chromosome Location	chr3:160383815-160383816
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160281841..160283673-chr3:160382473..160384132,2	K562	blood:
2	chr3:160378138..160380305-chr3:160382789..160386961,3	K562	blood:
3	chr3:160377138..160379638-chr3:160382685..160384289,2	K562	blood:
4	chr3:160382522..160384796-chr3:160388142..160391052,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186432	Chromatin interaction
ENSG00000229320	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16831336	0.97[ASN][1000 genomes]
rs2886889	0.96[ASN][1000 genomes]
rs56333234	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59364034	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62272209	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62272210	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62272213	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62272221	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67403526	0.81[EUR][1000 genomes]
rs6763770	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6765579	0.97[ASN][1000 genomes]
rs73155963	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv877703	chr3:160325458-160398885	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160372600-160385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:160382400-160385400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:160382800-160384200	Enhancers	Fetal Thymus	thymus
4	chr3:160383000-160384400	Enhancers	Dnd41	blood
5	chr3:160383200-160385000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:160383200-160385200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:160383400-160384000	Flanking Active TSS	GM12878-XiMat	blood
8	chr3:160383400-160384400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:160383400-160384400	Enhancers	NHLF	lung
10	chr3:160383400-160385600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:160383400-160386400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:160383600-160384000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr3:160383600-160384000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:160383600-160384000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:160383600-160384000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:160383600-160384000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:160383600-160384000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr3:160383600-160384000	Enhancers	Small Intestine	intestine
19	chr3:160383600-160384000	Enhancers	Thymus	Thymus
20	chr3:160383600-160384000	Flanking Active TSS	Hela-S3	cervix
21	chr3:160383600-160384200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:160383600-160384200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:160383600-160384200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:160383600-160384200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:160383600-160384200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:160383600-160384400	Enhancers	Primary B cells from peripheral blood	blood
27	chr3:160383600-160384400	Enhancers	Stomach Mucosa	stomach
28	chr3:160383600-160384400	Enhancers	HUVEC	blood vessel
29	chr3:160383600-160384600	Enhancers	Duodenum Mucosa	Duodenum
30	chr3:160383600-160385000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr3:160383600-160385600	Enhancers	NHDF-Ad	bronchial
32	chr3:160383600-160385800	Enhancers	HMEC	breast
33	chr3:160383600-160385800	Enhancers	Osteobl	bone
34	chr3:160383600-160386200	Enhancers	Fetal Intestine Large	intestine
35	chr3:160383600-160386200	Enhancers	Fetal Intestine Small	intestine
36	chr3:160383600-160386600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:160383800-160384200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:160383800-160384200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:160383800-160384200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:160383800-160384200	Flanking Active TSS	NH-A	brain
41	chr3:160383800-160384400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:160383800-160384400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:160383800-160384400	Enhancers	NHEK	skin
44	chr3:160383800-160384600	Weak transcription	Colonic Mucosa	Colon
45	chr3:160383800-160385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:160383800-160385800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:160383800-160386400	Enhancers	Rectal Mucosa Donor 31	rectum

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