Variant report

Variant	rs4075783
Chromosome Location	chr5:42587908-42587909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42577335..42580605-chr5:42585374..42588343,3	K562	blood:
2	chr5:42581855..42585774-chr5:42587574..42590469,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10941578	0.89[JPT][hapmap]
rs10941579	0.91[ASN][1000 genomes]
rs11948453	1.00[JPT][hapmap]
rs11949751	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12515372	1.00[AFR][1000 genomes]
rs12516901	0.87[ASN][1000 genomes]
rs12520276	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12521020	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs28943879	1.00[AFR][1000 genomes]
rs28943881	0.87[ASN][1000 genomes]
rs34466913	0.87[ASN][1000 genomes]
rs4242115	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4305645	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4314405	0.89[JPT][hapmap];1.00[AFR][1000 genomes]
rs4484445	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4489074	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4493680	0.89[JPT][hapmap]
rs4496716	0.94[ASN][1000 genomes]
rs4504390	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4533898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4554233	1.00[JPT][hapmap]
rs4866791	1.00[JPT][hapmap]
rs4866936	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs55696942	0.91[ASN][1000 genomes]
rs61197005	0.94[ASN][1000 genomes]
rs6451626	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6859653	0.89[JPT][hapmap]
rs6865492	0.91[ASN][1000 genomes]
rs6887718	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6896667	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7703713	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs7721816	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7735889	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9968669	1.00[AFR][1000 genomes];0.84[AMR][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	chr5:42583000-42588200	Enhancers	Liver	Liver
2	chr5:42583000-42590800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:42583200-42588400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:42583200-42591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:42583200-42591200	Weak transcription	Lung	lung
6	chr5:42583200-42591200	Weak transcription	Spleen	Spleen
7	chr5:42583400-42590000	Weak transcription	Right Ventricle	heart
8	chr5:42583800-42591200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:42585600-42588200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr5:42586200-42588200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:42586200-42588200	Enhancers	Fetal Stomach	stomach
12	chr5:42586400-42588200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42586400-42588200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:42586400-42588200	Enhancers	Colon Smooth Muscle	Colon
15	chr5:42586400-42588400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:42586400-42588600	Flanking Active TSS	K562	blood
17	chr5:42586600-42588200	Enhancers	Fetal Lung	lung
18	chr5:42586600-42588400	Enhancers	Fetal Muscle Leg	muscle
19	chr5:42586800-42588000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:42586800-42588400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:42587200-42588000	Flanking Active TSS	Fetal Heart	heart
22	chr5:42587400-42588000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:42587600-42588000	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr5:42587600-42588000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr5:42587600-42588400	Enhancers	Gastric	stomach
26	chr5:42587600-42588400	Enhancers	Pancreas	Pancrea
27	chr5:42587600-42590000	Weak transcription	HSMMtube	muscle
28	chr5:42587800-42588000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:42587800-42588000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr5:42587800-42588000	Flanking Active TSS	Right Atrium	heart
31	chr5:42587800-42588200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:42587800-42588200	Enhancers	Aorta	Aorta
33	chr5:42587800-42588200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr5:42587800-42588400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:42587800-42588600	Enhancers	Left Ventricle	heart
36	chr5:42587800-42588600	Enhancers	Ovary	ovary
37	chr5:42587800-42588600	Enhancers	Psoas Muscle	Psoas

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