Variant report

Variant	rs72991149
Chromosome Location	chr3:137772533-137772534
allele	G/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:17)

rs_ID	r²[population]
rs57127459	1.00[AMR][1000 genomes]
rs57342874	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59699263	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973021	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973027	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973035	1.00[AMR][1000 genomes]
rs72973039	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973043	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973050	1.00[AMR][1000 genomes]
rs72973053	1.00[AMR][1000 genomes]
rs72973054	1.00[AMR][1000 genomes]
rs72991151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991154	0.96[AFR][1000 genomes]
rs72991157	0.96[AFR][1000 genomes]
rs72991163	0.93[AFR][1000 genomes]
rs72991169	0.93[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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877535	chr3:137521204-137776539	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137729400-137780400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:137742000-137780200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:137744400-137792000	Weak transcription	Fetal Kidney	kidney
4	chr3:137749600-137780000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:137750000-137781800	Weak transcription	Lung	lung
6	chr3:137750600-137782200	Weak transcription	Fetal Intestine Small	intestine
7	chr3:137754400-137783000	Weak transcription	Stomach Mucosa	stomach
8	chr3:137763000-137780600	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:137763000-137797600	Weak transcription	Hela-S3	cervix
10	chr3:137763400-137780400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:137763400-137781400	Weak transcription	HSMMtube	muscle
12	chr3:137763400-137782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:137763600-137778200	Weak transcription	HSMM	muscle
14	chr3:137766200-137781000	Weak transcription	NHEK	skin
15	chr3:137766400-137772600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:137766800-137774000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:137766800-137780400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:137766800-137783600	Weak transcription	Brain Substantia Nigra	brain
19	chr3:137767000-137776000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:137767000-137778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:137767000-137782800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:137767200-137791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:137767400-137780400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:137767400-137780400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:137767600-137779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:137768200-137773800	Weak transcription	Adipose Nuclei	Adipose
27	chr3:137768200-137777400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:137768200-137780000	Weak transcription	Spleen	Spleen
29	chr3:137768200-137782800	Weak transcription	Esophagus	oesophagus
30	chr3:137768200-137787600	Weak transcription	A549	lung
31	chr3:137768400-137777800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:137768400-137780400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:137768400-137782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:137768600-137780000	Weak transcription	Aorta	Aorta
35	chr3:137768600-137782200	Weak transcription	Gastric	stomach
36	chr3:137768600-137783600	Weak transcription	Pancreas	Pancrea
37	chr3:137768800-137772600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:137768800-137772800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:137768800-137772800	Weak transcription	NH-A	brain
40	chr3:137768800-137778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:137768800-137778200	Weak transcription	Left Ventricle	heart
42	chr3:137768800-137778800	Weak transcription	Fetal Stomach	stomach
43	chr3:137768800-137779000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:137768800-137779600	Weak transcription	NHDF-Ad	bronchial
45	chr3:137768800-137779600	Weak transcription	Osteobl	bone
46	chr3:137768800-137779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:137768800-137779800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:137768800-137779800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:137768800-137779800	Weak transcription	Right Ventricle	heart
50	chr3:137768800-137781000	Weak transcription	Rectal Smooth Muscle	rectum

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