Variant report

Variant	rs7705844
Chromosome Location	chr5:14357740-14357741
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16903414	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903420	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs730185	0.91[AFR][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	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14335000-14360600	Weak transcription	Psoas Muscle	Psoas
2	chr5:14338400-14358000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:14339200-14358000	Weak transcription	Thymus	Thymus
4	chr5:14339200-14358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:14339400-14358400	Weak transcription	Fetal Thymus	thymus
6	chr5:14341400-14359400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:14342600-14358200	Weak transcription	Pancreas	Pancrea
8	chr5:14342800-14365200	Weak transcription	Small Intestine	intestine
9	chr5:14343200-14358800	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:14343800-14362400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:14344400-14358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:14347000-14358800	Weak transcription	Fetal Lung	lung
13	chr5:14348600-14359800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:14348800-14358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:14349000-14358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:14349400-14360000	Weak transcription	Fetal Kidney	kidney
17	chr5:14350400-14358800	Weak transcription	HMEC	breast
18	chr5:14350400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:14352200-14358200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:14352400-14358000	Weak transcription	Lung	lung
22	chr5:14353600-14366200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr5:14353800-14358000	Strong transcription	Fetal Intestine Large	intestine
26	chr5:14354200-14358400	Weak transcription	Hela-S3	cervix
27	chr5:14354400-14374800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:14354600-14402400	Strong transcription	Liver	Liver
29	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
30	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr5:14355400-14365200	Strong transcription	HSMM	muscle
32	chr5:14355600-14375000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:14355800-14358800	Weak transcription	NHDF-Ad	bronchial
34	chr5:14355800-14359000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:14356000-14362400	Strong transcription	Osteobl	bone
36	chr5:14356000-14366200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr5:14356400-14358400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:14356400-14365400	Strong transcription	NHEK	skin
39	chr5:14356400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:14356600-14357800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:14356600-14358000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:14356600-14358000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:14356600-14363800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:14356600-14365200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:14356800-14357800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:14356800-14358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:14356800-14358200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:14356800-14358200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:14356800-14358600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:14356800-14358600	Enhancers	Right Atrium	heart

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