Variant report

Variant	rs72919578
Chromosome Location	chr4:121614401-121614402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12507239	1.00[EUR][1000 genomes]
rs55925426	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56014814	1.00[EUR][1000 genomes]
rs56029376	0.81[EUR][1000 genomes]
rs56349949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58568085	0.90[EUR][1000 genomes]
rs60100184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60414940	1.00[EUR][1000 genomes]
rs60660972	1.00[EUR][1000 genomes]
rs72911539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913588	1.00[EUR][1000 genomes]
rs72913597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919574	1.00[EUR][1000 genomes]
rs72919576	1.00[EUR][1000 genomes]
rs73845419	1.00[EUR][1000 genomes]
rs73845420	1.00[EUR][1000 genomes]
rs73845428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121591200-121620600	Weak transcription	Left Ventricle	heart
2	chr4:121610200-121624600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:121612200-121617000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:121612400-121618200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:121612800-121616800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:121612800-121616800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:121613400-121615200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:121613400-121616200	Enhancers	Fetal Intestine Small	intestine
9	chr4:121613400-121616400	Enhancers	Fetal Intestine Large	intestine
10	chr4:121613600-121617400	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:121613600-121618000	Enhancers	Colon Smooth Muscle	Colon
12	chr4:121613800-121614600	Enhancers	NHLF	lung
13	chr4:121613800-121614800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:121614000-121614600	Enhancers	HUVEC	blood vessel
15	chr4:121614000-121615000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:121614000-121616800	Enhancers	NHEK	skin
17	chr4:121614200-121616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:121614400-121615600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:121614400-121616000	Weak transcription	Fetal Lung	lung
20	chr4:121614400-121616000	Weak transcription	A549	lung
21	chr4:121614400-121616200	Weak transcription	HSMM	muscle
22	chr4:121614400-121616200	Weak transcription	NH-A	brain
23	chr4:121614400-121616200	Weak transcription	NHDF-Ad	bronchial
24	chr4:121614400-121616200	Weak transcription	Osteobl	bone
25	chr4:121614400-121616400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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