Variant report

Variant	rs11785622
Chromosome Location	chr8:99317739-99317740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99270989..99273601-chr8:99316752..99319337,2	MCF-7	breast:
2	chr8:99315966..99318460-chr8:99319507..99321163,2	K562	blood:
3	chr8:99219998..99222653-chr8:99315063..99317794,2	MCF-7	breast:
4	chr8:99317402..99318955-chr8:99321562..99323926,2	K562	blood:
5	chr8:99317720..99320163-chr8:99340158..99342322,2	MCF-7	breast:
6	chr8:99308144..99310521-chr8:99315679..99317867,2	K562	blood:
7	chr8:99316732..99320317-chr8:99321692..99325687,5	MCF-7	breast:
8	chr8:99305096..99307073-chr8:99316454..99319196,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10096079	1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775325	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775839	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777508	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11780409	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782450	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783294	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17288913	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17289367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17360909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55812318	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524219	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524220	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524223	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987554	1.00[ASN][1000 genomes]
rs72664861	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Thiazide-induced adverse metabolic effects in hypertensive patients	23400010	GWAS catalog

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99310200-99324200	Weak transcription	Fetal Heart	heart
2	chr8:99313000-99318200	Weak transcription	Stomach Mucosa	stomach
3	chr8:99313800-99318000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:99315200-99318000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:99316000-99318400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:99316000-99318400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:99316000-99320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:99316800-99318600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:99316800-99318800	Enhancers	NHEK	skin
10	chr8:99317000-99317800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:99317000-99317800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:99317000-99317800	Enhancers	GM12878-XiMat	blood
13	chr8:99317000-99317800	Enhancers	HUVEC	blood vessel
14	chr8:99317000-99317800	Enhancers	NH-A	brain
15	chr8:99317000-99318000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:99317000-99318400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:99317000-99318800	Enhancers	HSMM	muscle
18	chr8:99317000-99319000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:99317000-99319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:99317000-99319000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:99317000-99319000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:99317000-99319000	Enhancers	NHDF-Ad	bronchial
23	chr8:99317200-99319000	Enhancers	Esophagus	oesophagus
24	chr8:99317200-99319200	Enhancers	Fetal Brain Male	brain
25	chr8:99317200-99319200	Enhancers	HepG2	liver
26	chr8:99317400-99318000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:99317400-99318000	Enhancers	K562	blood
28	chr8:99317600-99318000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:99317600-99318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:99317600-99319000	Enhancers	Fetal Brain Female	brain
31	chr8:99317600-99322800	Weak transcription	HMEC	breast

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