Variant report

Variant	rs6881929
Chromosome Location	chr5:42590480-42590481
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10941578	0.96[CEU][hapmap]
rs11739444	1.00[CEU][hapmap];0.86[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740415	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744988	1.00[CHD][hapmap]
rs11949751	1.00[CEU][hapmap];0.97[TSI][hapmap]
rs11955075	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521020	1.00[CEU][hapmap];0.97[TSI][hapmap]
rs13160458	0.96[CEU][hapmap]
rs13176410	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184352	0.84[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap]
rs13188386	0.81[GIH][hapmap]
rs17574616	1.00[CHD][hapmap]
rs34374598	1.00[ASN][1000 genomes]
rs34535288	1.00[ASN][1000 genomes]
rs34895721	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090794	1.00[ASN][1000 genomes]
rs4365846	0.96[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs4368736	1.00[ASN][1000 genomes]
rs4395642	0.96[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs4493680	0.95[CEU][hapmap]
rs4496716	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4504390	0.87[CEU][hapmap];0.92[TSI][hapmap]
rs61197005	0.82[EUR][1000 genomes]
rs6859653	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs6863381	0.85[CEU][hapmap]
rs6896667	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7703713	0.96[CEU][hapmap];0.97[TSI][hapmap]
rs7707913	1.00[CEU][hapmap];0.86[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712701	1.00[ASN][1000 genomes]
rs7714392	1.00[ASN][1000 genomes]
rs7735889	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7736209	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]

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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42583000-42590800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:42583200-42591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:42583200-42591200	Weak transcription	Lung	lung
4	chr5:42583200-42591200	Weak transcription	Spleen	Spleen
5	chr5:42583800-42591200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:42588000-42590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:42588000-42590600	Enhancers	Fetal Heart	heart
8	chr5:42588000-42590600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:42588200-42590600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:42588200-42590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:42588200-42590600	Weak transcription	Fetal Stomach	stomach
12	chr5:42588200-42590800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:42588200-42590800	Weak transcription	Aorta	Aorta
14	chr5:42588400-42590600	Weak transcription	Adipose Nuclei	Adipose
15	chr5:42588400-42590600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:42588400-42590800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:42588400-42591200	Weak transcription	Esophagus	oesophagus
18	chr5:42588400-42591400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:42588600-42590800	Weak transcription	Ovary	ovary
20	chr5:42588600-42591600	Weak transcription	Left Ventricle	heart
21	chr5:42589800-42590800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:42589800-42590800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:42589800-42591200	Enhancers	Liver	Liver
24	chr5:42590000-42590800	Enhancers	Stomach Smooth Muscle	stomach
25	chr5:42590000-42591000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:42590000-42591000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr5:42590000-42591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:42590000-42591200	Enhancers	Psoas Muscle	Psoas
29	chr5:42590000-42591600	Enhancers	HSMM	muscle
30	chr5:42590000-42591800	Enhancers	K562	blood
31	chr5:42590000-42592000	Enhancers	Rectal Smooth Muscle	rectum
32	chr5:42590000-42592400	Enhancers	Right Ventricle	heart
33	chr5:42590200-42590600	Weak transcription	Right Atrium	heart
34	chr5:42590200-42590600	Weak transcription	HSMMtube	muscle
35	chr5:42590400-42592000	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:42590400-42592000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:42590400-42592200	Enhancers	Fetal Lung	lung

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