Variant report

Variant	rs3805555
Chromosome Location	chr5:58287618-58287619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13360359	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16889175	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2277013	1.00[AMR][1000 genomes]
rs57454281	1.00[AMR][1000 genomes]
rs57718768	1.00[AMR][1000 genomes]
rs57835046	0.83[ASN][1000 genomes]
rs58202935	1.00[AMR][1000 genomes]
rs58830206	1.00[AMR][1000 genomes]
rs59840765	1.00[AMR][1000 genomes]
rs60286676	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60527700	1.00[AMR][1000 genomes]
rs60741550	1.00[AMR][1000 genomes]
rs60790143	1.00[AMR][1000 genomes]
rs60836618	1.00[AMR][1000 genomes]
rs60900708	1.00[AMR][1000 genomes]
rs6869400	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6883494	0.83[ASN][1000 genomes]
rs73093351	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58268000-58288400	Weak transcription	Stomach Mucosa	stomach
2	chr5:58268400-58294400	Weak transcription	NH-A	brain
3	chr5:58268800-58287800	Weak transcription	Placenta	Placenta
4	chr5:58268800-58288800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:58268800-58294600	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:58270200-58297400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:58270800-58292600	Weak transcription	Fetal Brain Male	brain
8	chr5:58270800-58295800	Weak transcription	Small Intestine	intestine
9	chr5:58270800-58297000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:58271000-58293600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:58271000-58294600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:58271600-58294400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:58272800-58289000	Weak transcription	HUVEC	blood vessel
14	chr5:58273000-58294400	Weak transcription	Brain Anterior Caudate	brain
15	chr5:58273400-58289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:58273800-58294400	Weak transcription	Brain Substantia Nigra	brain
17	chr5:58276400-58288800	Strong transcription	Hela-S3	cervix
18	chr5:58277800-58295600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:58278400-58297400	Weak transcription	HSMMtube	muscle
20	chr5:58278400-58299000	Weak transcription	Gastric	stomach
21	chr5:58278600-58292200	Weak transcription	Brain Germinal Matrix	brain
22	chr5:58279000-58288600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:58279200-58288000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:58279200-58314000	Weak transcription	Primary B cells from cord blood	blood
25	chr5:58279400-58317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:58279600-58293000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:58279600-58330400	Weak transcription	Fetal Stomach	stomach
28	chr5:58279800-58298200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:58280200-58297000	Weak transcription	Fetal Heart	heart
30	chr5:58280200-58297000	Weak transcription	Fetal Kidney	kidney
31	chr5:58280200-58297200	Weak transcription	Psoas Muscle	Psoas
32	chr5:58280200-58299400	Weak transcription	Right Ventricle	heart
33	chr5:58280400-58297600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:58281000-58288200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:58281200-58289200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:58281400-58288800	Strong transcription	HSMM	muscle
37	chr5:58281800-58289400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:58281800-58289800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:58281800-58321600	Weak transcription	Osteobl	bone
40	chr5:58282400-58288600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:58282400-58289200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:58282400-58289600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:58282400-58290600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:58282400-58306600	Weak transcription	Fetal Intestine Small	intestine
45	chr5:58282600-58290000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:58283600-58287800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:58283800-58288800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:58284000-58296200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:58284400-58289400	Genic enhancers	A549	lung
50	chr5:58284400-58297600	Weak transcription	Fetal Lung	lung

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