Variant report

Variant	rs343704
Chromosome Location	chr6:80622851-80622852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs163983	1.00[EUR][1000 genomes]
rs239530	1.00[EUR][1000 genomes]
rs343617	1.00[EUR][1000 genomes]
rs343619	1.00[EUR][1000 genomes]
rs343622	1.00[EUR][1000 genomes]
rs343626	1.00[EUR][1000 genomes]
rs343630	1.00[EUR][1000 genomes]
rs343633	1.00[EUR][1000 genomes]
rs343634	1.00[EUR][1000 genomes]
rs343690	1.00[EUR][1000 genomes]
rs343692	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343695	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs346365	0.80[AFR][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	chr6:80617600-80625600	Weak transcription	Fetal Thymus	thymus
2	chr6:80618400-80656000	Weak transcription	Aorta	Aorta
3	chr6:80618600-80626200	Weak transcription	Thymus	Thymus
4	chr6:80619200-80631800	Weak transcription	Esophagus	oesophagus
5	chr6:80620600-80628400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:80620800-80623000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:80620800-80628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:80620800-80628600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:80621000-80630000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:80621200-80630400	Weak transcription	Ovary	ovary
11	chr6:80621800-80626200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:80621800-80628000	Weak transcription	HMEC	breast
13	chr6:80621800-80630000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:80621800-80632000	Weak transcription	Brain Angular Gyrus	brain
15	chr6:80621800-80635000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:80622000-80643800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:80622000-80644200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:80622600-80623200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:80622600-80624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:80622600-80630000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:80622600-80632400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:80622600-80636800	Strong transcription	Dnd41	blood
23	chr6:80622600-80639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:80622800-80623400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:80622800-80630000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links