Variant report

Variant	rs73145988
Chromosome Location	chr5:94805390-94805391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10064488	1.00[ASN][1000 genomes]
rs11953259	1.00[ASN][1000 genomes]
rs11956897	1.00[AMR][1000 genomes]
rs17084844	1.00[AMR][1000 genomes]
rs17084856	1.00[ASN][1000 genomes]
rs17084871	1.00[ASN][1000 genomes]
rs17084917	1.00[EUR][1000 genomes]
rs73141949	1.00[ASN][1000 genomes]
rs73147905	1.00[AMR][1000 genomes]
rs73147912	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73147928	1.00[ASN][1000 genomes]
rs73147942	1.00[ASN][1000 genomes]
rs7703196	1.00[ASN][1000 genomes]
rs7730525	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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94780400-94810800	Weak transcription	Pancreas	Pancrea
2	chr5:94782000-94810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:94788400-94811200	Weak transcription	Small Intestine	intestine
4	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:94790600-94810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:94791800-94811200	Weak transcription	Hela-S3	cervix
7	chr5:94792600-94817800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:94792600-94821800	Weak transcription	Right Ventricle	heart
9	chr5:94794400-94810800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:94794600-94810800	Weak transcription	Spleen	Spleen
11	chr5:94794800-94805600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:94794800-94807400	Weak transcription	Psoas Muscle	Psoas
13	chr5:94794800-94817600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:94795000-94805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:94795200-94805600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:94795200-94826600	Weak transcription	NHEK	skin
17	chr5:94795400-94810400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:94795400-94814000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:94795600-94807200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:94795800-94805400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:94796000-94805600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:94796000-94805600	Strong transcription	Dnd41	blood
23	chr5:94796000-94805800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:94796000-94806200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:94796000-94810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:94796200-94805600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr5:94796800-94810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:94797000-94806200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:94797000-94817000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:94797000-94819200	Weak transcription	HepG2	liver
31	chr5:94797200-94805600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:94797200-94807200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:94797200-94811200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:94797400-94810800	Weak transcription	Fetal Intestine Small	intestine
35	chr5:94797600-94805600	Strong transcription	HSMM	muscle
36	chr5:94798000-94806200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:94798200-94805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:94798200-94805600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:94798200-94805600	Strong transcription	NHDF-Ad	bronchial
40	chr5:94798200-94805800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:94798400-94805400	Strong transcription	Osteobl	bone
42	chr5:94798400-94805600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:94798400-94805600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:94798400-94805600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:94798400-94805600	Strong transcription	Liver	Liver
46	chr5:94798400-94805600	Strong transcription	Fetal Thymus	thymus
47	chr5:94798600-94805400	Strong transcription	NH-A	brain
48	chr5:94798600-94805600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:94798600-94805600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:94798600-94806200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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