Variant report

Variant	rs7719329
Chromosome Location	chr5:108391660-108391661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10036583	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10037675	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10042152	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10042569	0.82[JPT][hapmap]
rs10052208	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10057719	0.85[JPT][hapmap]
rs13358881	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1423459	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17161562	0.82[JPT][hapmap]
rs17161593	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[YRI][hapmap]
rs17407366	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17450138	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs17450345	0.81[CHD][hapmap]
rs2228972	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs35141056	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3816024	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs41508849	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4358573	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4560594	1.00[CHB][hapmap]
rs4560595	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4957796	1.00[JPT][hapmap]
rs6594341	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6873130	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7709144	1.00[CHB][hapmap]
rs7718638	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7720808	0.93[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs7729739	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9326752	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs975056	0.81[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv882692	chr5:108391660-108474166	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882693	chr5:108391660-108502493	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108356000-108399000	Weak transcription	HSMM	muscle
2	chr5:108360400-108400400	Weak transcription	NHEK	skin
3	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
5	chr5:108376400-108392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:108377000-108399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:108387600-108395200	Weak transcription	Fetal Stomach	stomach
8	chr5:108387800-108394800	Weak transcription	Left Ventricle	heart
9	chr5:108388000-108396600	Weak transcription	Adipose Nuclei	Adipose
10	chr5:108388000-108401200	Weak transcription	Gastric	stomach
11	chr5:108388200-108391800	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:108388200-108393200	Weak transcription	Pancreas	Pancrea
13	chr5:108388200-108396000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:108388200-108401800	Weak transcription	Ovary	ovary
15	chr5:108388400-108391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:108388400-108392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:108388800-108396600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:108388800-108397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:108388800-108412000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:108389000-108396200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:108389800-108392200	Enhancers	Fetal Heart	heart
22	chr5:108390200-108396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:108390200-108398400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:108390600-108401600	Weak transcription	HSMMtube	muscle
25	chr5:108390800-108396000	Weak transcription	Fetal Lung	lung
26	chr5:108391000-108396000	Weak transcription	NHDF-Ad	bronchial

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