Variant report

Variant	rs343622
Chromosome Location	chr6:80633210-80633211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs151668	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs151670	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs163983	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs184672	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs239518	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs239519	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs239530	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs239531	0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343617	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343619	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343621	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343624	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343625	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343626	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343630	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343633	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343634	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343692	1.00[EUR][1000 genomes]
rs343695	1.00[EUR][1000 genomes]
rs343702	1.00[EUR][1000 genomes]
rs343703	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343704	1.00[EUR][1000 genomes]
rs346364	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs346365	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr6:80618400-80656000	Weak transcription	Aorta	Aorta
2	chr6:80621800-80635000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:80622000-80643800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:80622000-80644200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:80622600-80636800	Strong transcription	Dnd41	blood
6	chr6:80622600-80639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:80623400-80639000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:80624000-80643000	Weak transcription	NHDF-Ad	bronchial
9	chr6:80624400-80637800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:80624800-80636000	Weak transcription	Fetal Stomach	stomach
11	chr6:80625000-80633400	Weak transcription	HSMM	muscle
12	chr6:80625600-80636600	Strong transcription	Fetal Thymus	thymus
13	chr6:80626200-80633800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:80628600-80638600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:80629200-80639800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:80630800-80639800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:80630800-80639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:80631000-80653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:80631600-80638600	Weak transcription	Thymus	Thymus
20	chr6:80632000-80637400	Weak transcription	Primary T cells from cord blood	blood
21	chr6:80632000-80654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:80632400-80637200	Weak transcription	Fetal Intestine Large	intestine
23	chr6:80633000-80639600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:80633000-80646400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:80633200-80634800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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