Variant report

Variant	rs72940427
Chromosome Location	chr3:100785721-100785722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs61244178	1.00[AFR][1000 genomes]
rs72934219	1.00[AFR][1000 genomes]
rs72940419	1.00[AFR][1000 genomes]
rs72940421	1.00[AFR][1000 genomes]
rs72940422	1.00[AFR][1000 genomes]
rs72940424	1.00[AFR][1000 genomes]
rs72940428	1.00[AFR][1000 genomes]
rs72940432	1.00[AFR][1000 genomes]
rs72940458	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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv591176	chr3:100763611-100799644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv591177	chr3:100767398-100799644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3344837	chr3:100774311-100789597	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100783600-100786000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:100783600-100786000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:100783600-100786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:100783600-100786000	Enhancers	HUVEC	blood vessel
5	chr3:100783800-100786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:100783800-100786000	Enhancers	Colon Smooth Muscle	Colon
7	chr3:100784000-100786000	Enhancers	Hela-S3	cervix
8	chr3:100784000-100786000	Enhancers	HSMM	muscle
9	chr3:100784200-100785800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:100784200-100785800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:100784200-100786000	Enhancers	NH-A	brain
12	chr3:100784600-100785800	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:100784800-100786000	Enhancers	Aorta	Aorta
14	chr3:100784800-100786000	Enhancers	Fetal Intestine Large	intestine
15	chr3:100785000-100786000	Flanking Active TSS	NHDF-Ad	bronchial
16	chr3:100785000-100786000	Enhancers	Osteobl	bone
17	chr3:100785200-100785800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:100785200-100785800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:100785200-100785800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:100785200-100785800	Enhancers	Fetal Lung	lung
21	chr3:100785200-100785800	Flanking Active TSS	NHLF	lung
22	chr3:100785200-100786000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:100785200-100786000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:100785200-100786000	Enhancers	HSMMtube	muscle
25	chr3:100785200-100786000	Flanking Active TSS	NHEK	skin
26	chr3:100785400-100785800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr3:100785400-100785800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr3:100785400-100786000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:100785400-100786000	Enhancers	Fetal Intestine Small	intestine
30	chr3:100785400-100786000	Enhancers	Ovary	ovary
31	chr3:100785400-100786000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr3:100785400-100786000	Flanking Active TSS	A549	lung
33	chr3:100785600-100785800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:100785600-100785800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:100785600-100785800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:100785600-100785800	Enhancers	Fetal Stomach	stomach
37	chr3:100785600-100785800	Enhancers	Gastric	stomach
38	chr3:100785600-100785800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr3:100785600-100785800	Flanking Active TSS	HMEC	breast
40	chr3:100785600-100786000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:100785600-100786000	Enhancers	Duodenum Mucosa	Duodenum
42	chr3:100785600-100786000	Enhancers	Placenta	Placenta
43	chr3:100785600-100786000	Enhancers	Stomach Smooth Muscle	stomach

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