Variant report

Variant	rs72965319
Chromosome Location	chr4:150805663-150805664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10026653	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032726	1.00[AFR][1000 genomes]
rs28380189	1.00[AFR][1000 genomes]
rs28398845	0.93[AFR][1000 genomes]
rs28429910	0.92[AFR][1000 genomes]
rs28438692	0.93[AFR][1000 genomes]
rs28493797	0.92[AFR][1000 genomes]
rs28585603	0.93[AFR][1000 genomes]
rs57159415	0.83[AMR][1000 genomes]
rs57986477	0.93[AFR][1000 genomes]
rs58472290	1.00[AFR][1000 genomes]
rs58881840	0.93[AFR][1000 genomes]
rs59340158	0.83[AMR][1000 genomes]
rs60031939	1.00[AMR][1000 genomes]
rs72963564	1.00[AMR][1000 genomes]
rs72965316	0.98[AFR][1000 genomes]
rs72965329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967460	0.93[AFR][1000 genomes]
rs72967461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967474	0.83[AMR][1000 genomes]
rs72967477	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967480	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969406	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9992210	0.93[AFR][1000 genomes]
rs9994620	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1016169	chr4:150670127-150903827	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537299	chr4:150670127-150903827	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv880254	chr4:150712923-150852782	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv880255	chr4:150777012-150874830	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150795200-150806200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:150800600-150805800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:150804600-150806600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:150804600-150807600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:150804800-150808600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:150804800-150808600	Enhancers	NHDF-Ad	bronchial
7	chr4:150805000-150806600	Enhancers	Liver	Liver
8	chr4:150805000-150808400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:150805000-150808400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:150805000-150808600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:150805200-150805800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:150805200-150805800	Enhancers	Adipose Nuclei	Adipose
13	chr4:150805200-150806000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:150805200-150806800	Enhancers	NHEK	skin
15	chr4:150805200-150808400	Enhancers	HSMM	muscle
16	chr4:150805400-150805800	Enhancers	Colon Smooth Muscle	Colon
17	chr4:150805400-150806000	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:150805400-150806600	Enhancers	Fetal Intestine Small	intestine
19	chr4:150805400-150806600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:150805600-150806600	Weak transcription	NHLF	lung
21	chr4:150805600-150807400	Enhancers	HSMMtube	muscle

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