Variant report

Variant	rs4705804
Chromosome Location	chr5:112558770-112558771
allele	C/T
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:10)

rs_ID	r²[population]
rs1662961	0.93[ASN][1000 genomes]
rs2440190	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3846718	0.90[CHB][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3846719	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs496977	0.86[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs520680	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs557438	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs602641	0.86[ASN][1000 genomes]
rs639680	0.87[CEU][hapmap];0.89[GIH][hapmap];0.82[EUR][1000 genomes]
rs652794	0.90[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.94[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:112550200-112559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:112551600-112559800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:112553000-112560200	Weak transcription	Brain Substantia Nigra	brain
6	chr5:112553600-112560600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:112554200-112559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:112554200-112559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:112554200-112561600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112554200-112564200	Weak transcription	Small Intestine	intestine
11	chr5:112555000-112566800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:112555200-112559400	Weak transcription	Fetal Lung	lung
13	chr5:112555200-112559600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:112555600-112559600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:112555600-112560200	Weak transcription	Liver	Liver
16	chr5:112555600-112560200	Weak transcription	Fetal Stomach	stomach
17	chr5:112556600-112559000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:112556600-112561800	Enhancers	Ovary	ovary
19	chr5:112556800-112559800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:112557400-112558800	Weak transcription	Adipose Nuclei	Adipose
22	chr5:112557400-112559400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:112557400-112559400	Weak transcription	NH-A	brain
24	chr5:112557400-112560200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:112557400-112560400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:112557400-112561800	Weak transcription	NHDF-Ad	bronchial
27	chr5:112557400-112564800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:112557600-112559200	Weak transcription	Osteobl	bone
29	chr5:112557600-112566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:112557600-112566400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:112557800-112559200	Weak transcription	HUVEC	blood vessel
32	chr5:112557800-112561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:112557800-112562000	Weak transcription	NHEK	skin
34	chr5:112557800-112565200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:112557800-112566200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:112557800-112566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:112557800-112566400	Weak transcription	HMEC	breast
38	chr5:112557800-112566600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:112558000-112560000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:112558200-112559400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:112558200-112559600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr5:112558200-112559600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:112558200-112560000	Enhancers	Left Ventricle	heart
44	chr5:112558400-112558800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:112558400-112558800	Weak transcription	Aorta	Aorta
46	chr5:112558400-112558800	Enhancers	Psoas Muscle	Psoas
47	chr5:112558400-112559000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:112558400-112559000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr5:112558400-112560400	Enhancers	Right Atrium	heart
50	chr5:112558400-112561600	Enhancers	Right Ventricle	heart

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