Variant report

Variant	rs1264942
Chromosome Location	chr8:102904048-102904049
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1144545	0.88[ASN][1000 genomes]
rs1148498	0.81[EUR][1000 genomes]
rs1264866	0.81[EUR][1000 genomes]
rs1264946	0.83[ASN][1000 genomes]
rs1264948	0.80[EUR][1000 genomes]
rs1271946	0.91[ASN][1000 genomes]
rs1313944	0.92[ASN][1000 genomes]
rs1313945	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs472638	0.84[ASN][1000 genomes]
rs473498	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs477236	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs478069	0.80[EUR][1000 genomes]
rs478092	0.86[EUR][1000 genomes]
rs478189	0.84[ASN][1000 genomes]
rs478875	0.81[EUR][1000 genomes]
rs478896	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs478917	0.88[ASN][1000 genomes]
rs479041	0.84[ASN][1000 genomes]
rs479742	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs480955	0.86[ASN][1000 genomes]
rs481545	0.87[ASN][1000 genomes]
rs484657	0.90[EUR][1000 genomes]
rs485252	0.81[ASN][1000 genomes]
rs485363	0.85[ASN][1000 genomes]
rs486196	0.86[ASN][1000 genomes]
rs486496	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs487863	0.91[ASN][1000 genomes]
rs487987	0.94[ASN][1000 genomes]
rs489973	0.84[ASN][1000 genomes]
rs490032	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs490096	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs490125	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs494352	0.84[ASN][1000 genomes]
rs495636	0.88[ASN][1000 genomes]
rs497905	0.83[ASN][1000 genomes]
rs505460	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs506026	0.86[EUR][1000 genomes]
rs508386	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs510524	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs512202	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs513159	0.82[EUR][1000 genomes]
rs517868	0.93[ASN][1000 genomes]
rs526533	0.89[ASN][1000 genomes]
rs534512	0.82[EUR][1000 genomes]
rs539663	0.82[EUR][1000 genomes]
rs540459	0.88[ASN][1000 genomes]
rs542208	0.92[ASN][1000 genomes]
rs543897	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs544821	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs544928	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs550281	0.93[ASN][1000 genomes]
rs551295	0.83[ASN][1000 genomes]
rs553463	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs554945	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs557654	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs558159	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558772	0.89[ASN][1000 genomes]
rs558985	0.88[EUR][1000 genomes]
rs561000	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs561603	0.92[ASN][1000 genomes]
rs562037	0.84[ASN][1000 genomes]
rs563463	0.83[ASN][1000 genomes]
rs564718	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs566264	0.86[ASN][1000 genomes]
rs566315	0.88[ASN][1000 genomes]
rs566392	0.84[ASN][1000 genomes]
rs566501	0.86[ASN][1000 genomes]
rs568194	0.84[ASN][1000 genomes]
rs569787	0.84[ASN][1000 genomes]
rs571673	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs572692	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs577756	0.84[ASN][1000 genomes]
rs578603	0.82[EUR][1000 genomes];0.89[ASN][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:37 , 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	chr8:102899600-102904600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:102899600-102914600	Weak transcription	Left Ventricle	heart
5	chr8:102902200-102905000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:102902400-102910000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:102902600-102904200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:102902800-102904200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:102903000-102910000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:102903400-102904200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:102903600-102904200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:102903600-102904200	Active TSS	Duodenum Mucosa	Duodenum
13	chr8:102903600-102904600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:102903600-102905000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:102903600-102905000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:102903800-102904200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:102903800-102904200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:102903800-102904200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:102903800-102904200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:102903800-102904200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:102903800-102904200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:102903800-102904200	Active TSS	Colonic Mucosa	Colon
23	chr8:102903800-102904200	Active TSS	Placenta	Placenta
24	chr8:102903800-102904200	Enhancers	Gastric	stomach
25	chr8:102903800-102904200	Enhancers	Stomach Mucosa	stomach
26	chr8:102903800-102904200	Active TSS	Hela-S3	cervix
27	chr8:102903800-102904200	Active TSS	K562	blood
28	chr8:102903800-102904200	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr8:102904000-102904200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:102904000-102904200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:102904000-102904200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:102904000-102904200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:102904000-102904200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:102904000-102904200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:102904000-102904200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:102904000-102904200	Active TSS	Psoas Muscle	Psoas
37	chr8:102904000-102904200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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