Variant report

Variant	rs1264946
Chromosome Location	chr8:102904703-102904704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1144545	0.83[EUR][1000 genomes]
rs1264942	0.83[ASN][1000 genomes]
rs1264948	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1264949	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1271946	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1313944	0.81[ASN][1000 genomes]
rs1313945	0.87[EUR][1000 genomes]
rs472638	0.82[EUR][1000 genomes]
rs478917	0.83[EUR][1000 genomes]
rs479742	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs480570	0.82[EUR][1000 genomes]
rs481545	0.83[EUR][1000 genomes]
rs482023	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs484657	0.81[EUR][1000 genomes]
rs485252	0.83[EUR][1000 genomes]
rs485263	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs485363	0.82[EUR][1000 genomes]
rs486496	0.81[EUR][1000 genomes]
rs487863	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs487987	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs494352	0.81[EUR][1000 genomes]
rs495636	0.83[EUR][1000 genomes]
rs502334	0.82[EUR][1000 genomes]
rs505460	0.81[ASN][1000 genomes]
rs508386	0.91[ASN][1000 genomes]
rs510524	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs512202	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs513159	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs513472	0.81[EUR][1000 genomes]
rs514057	0.88[EUR][1000 genomes]
rs517868	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs529684	0.82[EUR][1000 genomes]
rs531624	0.82[EUR][1000 genomes]
rs540459	0.83[EUR][1000 genomes]
rs542208	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs543897	0.83[EUR][1000 genomes]
rs544821	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs549281	0.82[EUR][1000 genomes]
rs550281	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs551295	0.81[EUR][1000 genomes]
rs553463	0.83[ASN][1000 genomes]
rs554945	0.83[EUR][1000 genomes]
rs557654	0.84[EUR][1000 genomes]
rs558985	0.80[EUR][1000 genomes]
rs561603	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs566315	0.81[EUR][1000 genomes]
rs569015	0.83[EUR][1000 genomes]
rs576173	0.82[EUR][1000 genomes]
rs577756	0.82[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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102896400-102914800	Weak transcription	Right Ventricle	heart
2	chr8:102898000-102914600	Weak transcription	Ovary	ovary
3	chr8:102899600-102914600	Weak transcription	Left Ventricle	heart
4	chr8:102902200-102905000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:102902400-102910000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:102903000-102910000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:102903600-102905000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:102903600-102905000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:102904200-102914600	Weak transcription	K562	blood
10	chr8:102904600-102904800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:102904600-102905000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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