Variant report

Variant	rs6470146
Chromosome Location	chr8:124416004-124416005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124406625..124409750-chr8:124412518..124416367,5	K562	blood:
2	chr8:124415153..124417409-chr8:124424066..124426465,2	K562	blood:

Variant related genes	Relation type
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10111271	0.90[EUR][1000 genomes]
rs10956126	0.90[EUR][1000 genomes]
rs11774702	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776589	0.87[EUR][1000 genomes]
rs11783637	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs11787093	0.86[EUR][1000 genomes]
rs12543979	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12707901	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779985	0.96[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3779989	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3779991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857957	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4006576	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4870851	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871366	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs4871367	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs4871368	0.92[EUR][1000 genomes]
rs4871370	0.90[EUR][1000 genomes]
rs4871371	0.90[EUR][1000 genomes]
rs4871373	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs4871377	0.96[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.87[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62519216	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6981304	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6986525	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7012343	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7833321	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7836626	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs7836880	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7840703	0.96[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7844004	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv971698	chr8:124409783-124416455	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6470146	WDYHV1	cis	lymphoblastoid	seeQTL
rs6470146	WDYHV1	cis	cerebellum	SCAN
rs6470146	WDYHV1	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124409400-124419200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:124409400-124421400	Weak transcription	Right Ventricle	heart
3	chr8:124409400-124424800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:124409400-124427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:124409400-124427600	Weak transcription	A549	lung
6	chr8:124409400-124428000	Weak transcription	Brain Anterior Caudate	brain
7	chr8:124409600-124417800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:124409600-124424600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:124409600-124424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:124409800-124424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:124409800-124427800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:124414400-124425000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:124414600-124416200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:124414800-124416800	Enhancers	Fetal Heart	heart
15	chr8:124415400-124416200	Enhancers	Right Atrium	heart
16	chr8:124415400-124416800	Enhancers	Liver	Liver
17	chr8:124415600-124416200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:124415600-124418800	Weak transcription	Gastric	stomach
19	chr8:124415800-124416200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:124415800-124416200	Enhancers	Fetal Intestine Small	intestine
21	chr8:124415800-124416200	Enhancers	Left Ventricle	heart
22	chr8:124415800-124416200	Enhancers	Pancreas	Pancrea
23	chr8:124415800-124416200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr8:124415800-124416400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:124415800-124416600	Enhancers	Fetal Intestine Large	intestine
26	chr8:124415800-124416800	Enhancers	Hela-S3	cervix
27	chr8:124415800-124416800	Flanking Active TSS	HepG2	liver
28	chr8:124416000-124416200	Enhancers	Brain Angular Gyrus	brain
29	chr8:124416000-124416200	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links