Variant report

Variant	rs611823
Chromosome Location	chr6:131451282-131451283
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs473556	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs500008	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs509716	0.87[ASN][1000 genomes]
rs600306	0.81[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs600749	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613182	1.00[ASN][1000 genomes]
rs613606	1.00[ASN][1000 genomes]
rs7765542	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019112	chr6:131409284-131452300	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2761029	chr6:131413789-131452312	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016925	chr6:131418532-131452300	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs611823	C6orf192	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131446000-131456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:131447200-131455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:131449000-131456000	Weak transcription	Fetal Brain Male	brain
4	chr6:131450200-131451800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:131450800-131451600	Enhancers	HepG2	liver
6	chr6:131450800-131451600	Enhancers	NHEK	skin
7	chr6:131450800-131452000	Enhancers	Liver	Liver
8	chr6:131451000-131451400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:131451000-131451400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:131451000-131451400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:131451000-131451600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:131451000-131451600	Enhancers	HMEC	breast
13	chr6:131451000-131452000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:131451200-131451600	Enhancers	HSMMtube	muscle
15	chr6:131451200-131452400	Enhancers	HSMM	muscle
16	chr6:131451200-131455800	Weak transcription	Monocytes-CD14+_RO01746	blood

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links