Variant report

Variant	rs72931155
Chromosome Location	chr3:48864959-48864960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13318132	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs14828	1.00[EUR][1000 genomes]
rs28523319	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28615670	1.00[EUR][1000 genomes]
rs4527417	1.00[EUR][1000 genomes]
rs58708931	1.00[EUR][1000 genomes]
rs58835493	1.00[EUR][1000 genomes]
rs58914641	1.00[EUR][1000 genomes]
rs58998762	1.00[EUR][1000 genomes]
rs59352296	1.00[EUR][1000 genomes]
rs60338814	1.00[EUR][1000 genomes]
rs60352528	1.00[EUR][1000 genomes]
rs61008775	1.00[EUR][1000 genomes]
rs61744082	1.00[EUR][1000 genomes]
rs6791777	1.00[EUR][1000 genomes]
rs72930094	1.00[EUR][1000 genomes]
rs72931157	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72931171	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72934791	1.00[EUR][1000 genomes]
rs72936804	1.00[EUR][1000 genomes]
rs72936810	1.00[EUR][1000 genomes]
rs72936890	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73830478	1.00[EUR][1000 genomes]
rs73833525	1.00[EUR][1000 genomes]
rs9820609	1.00[EUR][1000 genomes]
rs9833422	1.00[EUR][1000 genomes]
rs9860187	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9876812	1.00[EUR][1000 genomes]
rs9877045	1.00[EUR][1000 genomes]
rs9882714	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48810000-48882800	Weak transcription	Fetal Brain Female	brain
2	chr3:48820400-48868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:48820600-48882800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:48826400-48868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:48826800-48869600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:48826800-48882800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:48827800-48865600	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:48842200-48871200	Weak transcription	Fetal Stomach	stomach
9	chr3:48850400-48870600	Weak transcription	Primary B cells from cord blood	blood
10	chr3:48850600-48882600	Weak transcription	Primary T cells from cord blood	blood
11	chr3:48850800-48871600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:48850800-48882600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:48850800-48882600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:48851000-48882400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr3:48851800-48874400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr3:48855800-48884000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:48857400-48874600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:48857400-48882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:48857600-48882600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:48858000-48882600	Weak transcription	Brain Germinal Matrix	brain
21	chr3:48858600-48882400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:48858600-48882800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:48858800-48865400	Weak transcription	Right Atrium	heart
24	chr3:48858800-48868200	Weak transcription	Brain Angular Gyrus	brain
25	chr3:48858800-48872800	Weak transcription	Right Ventricle	heart
26	chr3:48858800-48873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:48858800-48882600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:48858800-48882600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:48858800-48882800	Weak transcription	Gastric	stomach
30	chr3:48859200-48867600	Weak transcription	Left Ventricle	heart
31	chr3:48859200-48882800	Weak transcription	Lung	lung
32	chr3:48859800-48867400	Weak transcription	Psoas Muscle	Psoas
33	chr3:48860000-48868200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:48861600-48871200	Weak transcription	Fetal Intestine Small	intestine
35	chr3:48862800-48865400	Enhancers	NHDF-Ad	bronchial
36	chr3:48863200-48865200	Enhancers	Osteobl	bone
37	chr3:48863400-48865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:48863600-48865000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:48863600-48865200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:48863600-48865200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:48863600-48865400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:48863800-48865200	Enhancers	NHLF	lung
43	chr3:48864000-48865000	Enhancers	Brain Hippocampus Middle	brain
44	chr3:48864000-48865000	Enhancers	Brain Substantia Nigra	brain
45	chr3:48864200-48865000	Enhancers	NHEK	skin
46	chr3:48864200-48868200	Weak transcription	Adipose Nuclei	Adipose
47	chr3:48864200-48882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:48864200-48883200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:48864400-48865000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:48864400-48874400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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