Variant report

Variant	rs343703
Chromosome Location	chr6:80622421-80622422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs151668	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs151670	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs163983	0.84[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs184672	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs239518	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs239519	0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs239530	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs239531	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343617	0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343619	0.84[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343621	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343622	0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343624	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343625	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343626	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343630	0.92[ASW][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343633	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343634	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343690	1.00[AMR][1000 genomes]
rs346364	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs346365	0.92[ASW][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80617600-80625600	Weak transcription	Fetal Thymus	thymus
2	chr6:80618400-80622600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:80618400-80656000	Weak transcription	Aorta	Aorta
4	chr6:80618600-80626200	Weak transcription	Thymus	Thymus
5	chr6:80619200-80631800	Weak transcription	Esophagus	oesophagus
6	chr6:80620200-80622600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:80620600-80628400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:80620800-80623000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:80620800-80628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:80620800-80628600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:80621000-80622600	Weak transcription	Dnd41	blood
12	chr6:80621000-80630000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:80621200-80630400	Weak transcription	Ovary	ovary
14	chr6:80621800-80622600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:80621800-80622600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:80621800-80622800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:80621800-80626200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:80621800-80628000	Weak transcription	HMEC	breast
19	chr6:80621800-80630000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:80621800-80632000	Weak transcription	Brain Angular Gyrus	brain
21	chr6:80621800-80635000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:80622000-80622600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:80622000-80643800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:80622000-80644200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:80622400-80622600	Enhancers	H1 Cell Line	embryonic stem cell

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