Variant report

Variant	rs72554005
Chromosome Location	chr3:119513665-119513666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119510909..119513953-chr3:119514986..119517424,3	K562	blood:
2	chr3:119513257..119518482-chr3:119518835..119521864,6	K562	blood:
3	chr3:119497497..119499606-chr3:119513242..119515425,2	K562	blood:
4	chr3:119512757..119515605-chr3:119516397..119518859,2	MCF-7	breast:
5	chr3:119215696..119217904-chr3:119512821..119515742,3	K562	blood:

Variant related genes	Relation type
ENSG00000144852	Chromatin interaction
ENSG00000272662	Chromatin interaction
ENSG00000113845	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]
rs13323135	0.87[EUR][1000 genomes]
rs16830505	0.90[ASN][1000 genomes]
rs4687884	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687885	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687886	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687887	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688041	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55907307	1.00[ASN][1000 genomes]
rs56155951	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59162145	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59953121	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60822858	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61211594	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438545	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773295	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775566	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72552100	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72554006	1.00[ASN][1000 genomes]
rs72554009	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72554015	1.00[ASN][1000 genomes]
rs73854707	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73854708	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73854714	1.00[ASN][1000 genomes]
rs73854716	0.87[EUR][1000 genomes];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:24 , 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	chr3:119511200-119513800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:119511400-119514200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:119512000-119514000	Enhancers	HepG2	liver
6	chr3:119512000-119515800	Genic enhancers	Fetal Intestine Small	intestine
7	chr3:119512400-119513800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:119512400-119513800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:119512400-119514000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:119513400-119513800	Enhancers	A549	lung
11	chr3:119513400-119513800	Enhancers	Hela-S3	cervix
12	chr3:119513400-119513800	Enhancers	K562	blood
13	chr3:119513400-119514000	Enhancers	Stomach Mucosa	stomach
14	chr3:119513400-119514200	Enhancers	Fetal Intestine Large	intestine
15	chr3:119513400-119514200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr3:119513400-119515000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:119513600-119513800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:119513600-119513800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:119513600-119514000	Enhancers	Liver	Liver
20	chr3:119513600-119514200	Strong transcription	Right Atrium	heart
21	chr3:119513600-119514600	Enhancers	Adipose Nuclei	Adipose
22	chr3:119513600-119514800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:119513600-119515400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr3:119513600-119515800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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