Variant report

Variant	rs7014430
Chromosome Location	chr8:8827737-8827738
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8816818..8819734-chr8:8826838..8829171,2	K562	blood:

Variant related genes	Relation type
ENSG00000207244	Chromatin interaction
ENSG00000233609	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11780774	0.82[EUR][1000 genomes]
rs11787026	0.83[CEU][hapmap]
rs11990476	0.86[ASN][1000 genomes]
rs11992016	0.86[ASN][1000 genomes]
rs12114954	0.84[CEU][hapmap]
rs12542733	0.80[AMR][1000 genomes]
rs12549151	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13252797	0.93[ASN][1000 genomes]
rs1594437	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17702602	0.81[CEU][hapmap]
rs2043129	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043131	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2060045	0.93[ASN][1000 genomes]
rs28510464	0.93[ASN][1000 genomes]
rs28587518	0.86[ASN][1000 genomes]
rs28740848	0.93[ASN][1000 genomes]
rs4840376	0.82[EUR][1000 genomes]
rs4840381	0.93[ASN][1000 genomes]
rs57395675	0.86[ASN][1000 genomes]
rs57693332	0.80[ASN][1000 genomes]
rs58594457	0.86[ASN][1000 genomes]
rs59374911	0.86[ASN][1000 genomes]
rs59454995	0.93[ASN][1000 genomes]
rs60274012	0.86[ASN][1000 genomes]
rs6601280	0.83[CEU][hapmap]
rs6981745	0.82[EUR][1000 genomes]
rs6983877	0.84[CEU][hapmap]
rs7004160	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7014604	0.86[ASN][1000 genomes]
rs7016240	0.86[ASN][1000 genomes]
rs73514371	0.80[ASN][1000 genomes]
rs73514373	0.93[ASN][1000 genomes]
rs73518314	0.93[ASN][1000 genomes]
rs73518320	0.93[ASN][1000 genomes]
rs73522594	0.86[ASN][1000 genomes]
rs73662257	0.86[ASN][1000 genomes]
rs7814828	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7836156	0.93[ASN][1000 genomes]
rs7843024	0.81[EUR][1000 genomes]
rs7843789	0.82[EUR][1000 genomes]
rs9987276	0.93[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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7014430	RP11-62H7.2	cis	Thyroid	GTEx
rs7014430	RP11-62H7.2	cis	Whole Blood	GTEx
rs7014430	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8820800-8835400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:8821200-8835600	Weak transcription	Gastric	stomach
4	chr8:8821800-8831000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:8826000-8831800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:8826400-8831400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:8826600-8827800	Enhancers	NHDF-Ad	bronchial
8	chr8:8826600-8828000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:8826800-8831200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:8827200-8828800	Enhancers	Fetal Intestine Small	intestine
11	chr8:8827400-8828000	Enhancers	Fetal Intestine Large	intestine
12	chr8:8827400-8828200	Flanking Active TSS	Liver	Liver
13	chr8:8827400-8828200	Active TSS	Duodenum Mucosa	Duodenum
14	chr8:8827400-8828200	Flanking Active TSS	HepG2	liver
15	chr8:8827400-8828800	Enhancers	Stomach Mucosa	stomach
16	chr8:8827600-8828000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:8827600-8828000	Active TSS	Rectal Mucosa Donor 31	rectum

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