Variant report

Variant	rs73136297
Chromosome Location	chr4:48135221-48135222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16851701	0.94[AFR][1000 genomes]
rs16860977	0.97[AFR][1000 genomes]
rs16860981	0.97[AFR][1000 genomes]
rs16861011	0.86[AFR][1000 genomes]
rs16861029	1.00[AFR][1000 genomes]
rs16861042	0.94[AFR][1000 genomes]
rs16861050	0.94[AFR][1000 genomes]
rs57432780	0.83[AFR][1000 genomes]
rs59378694	0.97[AFR][1000 genomes]
rs73136296	0.86[AFR][1000 genomes]
rs73136299	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
3	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
4	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
6	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
13	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
14	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
16	chr4:48130600-48135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:48130600-48137000	Weak transcription	Liver	Liver
19	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:48131000-48135600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:48131000-48137800	Weak transcription	Aorta	Aorta
24	chr4:48131800-48135600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:48131800-48137400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:48131800-48141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:48131800-48142000	Weak transcription	NHLF	lung
28	chr4:48132000-48136000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:48132000-48136000	Weak transcription	Fetal Lung	lung
30	chr4:48132000-48137600	Weak transcription	Spleen	Spleen
31	chr4:48132000-48141400	Weak transcription	HUVEC	blood vessel
32	chr4:48132000-48141600	Weak transcription	NHDF-Ad	bronchial
33	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:48132200-48136200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr4:48132200-48137400	Weak transcription	Fetal Intestine Large	intestine
37	chr4:48132200-48137800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:48132200-48137800	Weak transcription	Fetal Intestine Small	intestine
39	chr4:48132200-48137800	Weak transcription	Lung	lung
40	chr4:48132200-48138800	Weak transcription	Stomach Mucosa	stomach
41	chr4:48132200-48139800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:48132200-48141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:48132400-48137800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:48132400-48142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:48132600-48137600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:48132600-48138000	Weak transcription	Pancreas	Pancrea
47	chr4:48132600-48140200	Weak transcription	Right Ventricle	heart
48	chr4:48132600-48141000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:48133000-48136200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr4:48133000-48136600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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