Variant report

Variant	rs72981415
Chromosome Location	chr3:135700804-135700805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16843592	0.94[AFR][1000 genomes]
rs16843633	0.88[AFR][1000 genomes]
rs16843661	1.00[AFR][1000 genomes]
rs35168710	1.00[EUR][1000 genomes]
rs56736462	1.00[AFR][1000 genomes]
rs57374999	0.88[AFR][1000 genomes]
rs58030391	0.89[AFR][1000 genomes]
rs58096685	1.00[AFR][1000 genomes]
rs58503058	1.00[AFR][1000 genomes]
rs59720283	1.00[AFR][1000 genomes]
rs59985749	1.00[AFR][1000 genomes]
rs60165730	1.00[AFR][1000 genomes]
rs60393211	0.88[AFR][1000 genomes]
rs60707425	0.88[AFR][1000 genomes]
rs61209689	0.89[AFR][1000 genomes]
rs72981481	0.89[AFR][1000 genomes]
rs72981494	1.00[AFR][1000 genomes]
rs72983403	1.00[AFR][1000 genomes]
rs72983409	1.00[AFR][1000 genomes]
rs72983437	1.00[AFR][1000 genomes]
rs72983449	0.89[AFR][1000 genomes]
rs72983474	1.00[AFR][1000 genomes]
rs72983475	1.00[AFR][1000 genomes]
rs72983479	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	esv3463539	chr3:135696927-135701248	Weak transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3463540	chr3:135696927-135701248	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135690200-135701200	Weak transcription	NHEK	skin
2	chr3:135690200-135701400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:135693000-135701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:135693400-135701400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:135693600-135701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:135693600-135704000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:135694000-135713600	Weak transcription	Fetal Lung	lung
8	chr3:135694000-135726600	Weak transcription	Esophagus	oesophagus
9	chr3:135694200-135701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:135694200-135702000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:135694200-135707400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:135694200-135707400	Weak transcription	Gastric	stomach
13	chr3:135694200-135708800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:135694200-135709600	Weak transcription	Right Atrium	heart
15	chr3:135694200-135713400	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:135698400-135702600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr3:135699000-135703200	Enhancers	Colon Smooth Muscle	Colon
18	chr3:135699000-135704800	Enhancers	Rectal Smooth Muscle	rectum
19	chr3:135699600-135701000	Enhancers	Ovary	ovary
20	chr3:135699600-135702000	Enhancers	Psoas Muscle	Psoas
21	chr3:135699600-135702000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:135699600-135702600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:135699600-135703400	Enhancers	NHDF-Ad	bronchial
24	chr3:135699800-135701400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:135699800-135702200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:135699800-135703200	Enhancers	NHLF	lung
27	chr3:135699800-135709600	Weak transcription	Right Ventricle	heart
28	chr3:135700200-135701400	Enhancers	Fetal Intestine Large	intestine
29	chr3:135700200-135704200	Weak transcription	Brain Substantia Nigra	brain
30	chr3:135700400-135701400	Enhancers	Duodenum Mucosa	Duodenum
31	chr3:135700400-135703400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:135700400-135708800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:135700600-135701000	Weak transcription	Fetal Intestine Small	intestine
34	chr3:135700600-135701600	Enhancers	Pancreas	Pancrea
35	chr3:135700600-135701600	Enhancers	NH-A	brain
36	chr3:135700600-135702800	Enhancers	HMEC	breast
37	chr3:135700800-135701000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr3:135700800-135701200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:135700800-135701800	Enhancers	Aorta	Aorta
40	chr3:135700800-135702200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:135700800-135702800	Enhancers	HSMM	muscle
42	chr3:135700800-135703000	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links