Variant report

Variant	rs4077816
Chromosome Location	chr5:95582494-95582495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:95582386-95582512	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000250158	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10043904	0.83[AFR][1000 genomes]
rs10062171	0.90[ASN][1000 genomes]
rs10064683	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10070093	0.83[AFR][1000 genomes]
rs10213951	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10476668	0.83[AFR][1000 genomes]
rs12518407	0.94[ASN][1000 genomes]
rs271920	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs271922	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs271924	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs271925	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs271926	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs28788264	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4264961	0.83[EUR][1000 genomes]
rs4367317	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4379224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4464721	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4635954	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4635955	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4869275	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55745974	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56311820	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6233	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs62364560	0.83[AFR][1000 genomes]
rs62364561	0.83[AFR][1000 genomes]
rs62366027	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62366031	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6556912	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6881060	0.82[EUR][1000 genomes]
rs6885381	0.83[EUR][1000 genomes]
rs6888535	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6893547	0.88[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6895341	0.83[EUR][1000 genomes]
rs6899076	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72787618	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7447610	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7708068	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95572200-95582800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:95578000-95584200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:95578200-95584000	Enhancers	Osteobl	bone
4	chr5:95579200-95582800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:95579200-95583200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:95579200-95584400	Enhancers	HSMM	muscle
7	chr5:95579400-95583200	Enhancers	NHEK	skin
8	chr5:95579400-95584200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:95579600-95583400	Weak transcription	Right Atrium	heart
10	chr5:95579800-95582600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:95580000-95583000	Weak transcription	NH-A	brain
12	chr5:95580400-95582800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:95580600-95582800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:95580800-95583000	Enhancers	HSMMtube	muscle
15	chr5:95581000-95583000	Enhancers	NHDF-Ad	bronchial
16	chr5:95581000-95585400	Enhancers	Fetal Lung	lung
17	chr5:95581200-95583800	Enhancers	Aorta	Aorta
18	chr5:95581200-95584000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:95581400-95583000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:95581400-95584000	Enhancers	Brain Germinal Matrix	brain
21	chr5:95581600-95582800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:95581600-95582800	Weak transcription	Fetal Heart	heart
23	chr5:95581600-95582800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:95581600-95583200	Enhancers	A549	lung
25	chr5:95581600-95583800	Enhancers	Gastric	stomach
26	chr5:95581600-95584200	Enhancers	Pancreas	Pancrea
27	chr5:95581800-95582800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:95581800-95582800	Weak transcription	Stomach Mucosa	stomach
29	chr5:95581800-95583200	Enhancers	Liver	Liver
30	chr5:95581800-95585000	Enhancers	HepG2	liver
31	chr5:95582200-95582800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:95582200-95582800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:95582200-95583000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:95582200-95583200	Enhancers	HMEC	breast
35	chr5:95582200-95584200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:95582200-95584200	Enhancers	Fetal Brain Female	brain
37	chr5:95582200-95585800	Enhancers	Fetal Brain Male	brain
38	chr5:95582400-95582800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:95582400-95584200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:95582400-95584200	Enhancers	NHLF	lung
41	chr5:95582400-95584600	Enhancers	Pancreatic Islets	Pancreatic Islet

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