Variant report

Variant	rs72554006
Chromosome Location	chr3:119513974-119513975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119513257..119518482-chr3:119518835..119521864,6	K562	blood:
2	chr3:119497497..119499606-chr3:119513242..119515425,2	K562	blood:
3	chr3:119512757..119515605-chr3:119516397..119518859,2	MCF-7	breast:
4	chr3:119215696..119217904-chr3:119512821..119515742,3	K562	blood:

Variant related genes	Relation type
ENSG00000144852	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12721597	1.00[ASN][1000 genomes]
rs16830505	0.90[ASN][1000 genomes]
rs28697000	1.00[AMR][1000 genomes]
rs4687884	1.00[ASN][1000 genomes]
rs4687885	1.00[ASN][1000 genomes]
rs4687886	1.00[ASN][1000 genomes]
rs4687887	1.00[ASN][1000 genomes]
rs55907307	1.00[ASN][1000 genomes]
rs56155951	1.00[ASN][1000 genomes]
rs59162145	1.00[ASN][1000 genomes]
rs59953121	1.00[ASN][1000 genomes]
rs60822858	1.00[ASN][1000 genomes]
rs61211594	1.00[ASN][1000 genomes]
rs61744328	1.00[AMR][1000 genomes]
rs6438545	1.00[ASN][1000 genomes]
rs6773295	1.00[ASN][1000 genomes]
rs6775566	1.00[ASN][1000 genomes]
rs72552100	1.00[ASN][1000 genomes]
rs72554005	1.00[ASN][1000 genomes]
rs72554009	1.00[ASN][1000 genomes]
rs72554015	1.00[ASN][1000 genomes]
rs73854707	0.82[ASN][1000 genomes]
rs73854708	1.00[ASN][1000 genomes]
rs73854714	1.00[ASN][1000 genomes]
rs73854716	0.82[ASN][1000 genomes]
rs9828996	1.00[ASN][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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119500200-119514400	Weak transcription	Small Intestine	intestine
2	chr3:119501800-119515000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:119511400-119514200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:119512000-119514000	Enhancers	HepG2	liver
5	chr3:119512000-119515800	Genic enhancers	Fetal Intestine Small	intestine
6	chr3:119512400-119514000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:119513400-119514000	Enhancers	Stomach Mucosa	stomach
8	chr3:119513400-119514200	Enhancers	Fetal Intestine Large	intestine
9	chr3:119513400-119514200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr3:119513400-119515000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:119513600-119514000	Enhancers	Liver	Liver
12	chr3:119513600-119514200	Strong transcription	Right Atrium	heart
13	chr3:119513600-119514600	Enhancers	Adipose Nuclei	Adipose
14	chr3:119513600-119514800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:119513600-119515400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr3:119513600-119515800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:119513800-119514200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:119513800-119514200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:119513800-119514200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr3:119513800-119514200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:119513800-119514200	Enhancers	Esophagus	oesophagus
22	chr3:119513800-119514400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:119513800-119514400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:119513800-119514400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:119513800-119514400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:119513800-119514400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:119513800-119514600	Enhancers	Placenta	Placenta
28	chr3:119513800-119514800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:119513800-119514800	Enhancers	Colonic Mucosa	Colon
30	chr3:119513800-119514800	Flanking Active TSS	Hela-S3	cervix
31	chr3:119513800-119514800	Enhancers	HSMMtube	muscle
32	chr3:119513800-119515000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:119513800-119515000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:119513800-119515200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:119513800-119515200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:119513800-119515200	Flanking Active TSS	A549	lung
37	chr3:119513800-119515200	Flanking Active TSS	K562	blood
38	chr3:119513800-119516200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:119513800-119516200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:119513800-119516200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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