Variant report

Variant	rs56047034
Chromosome Location	chr8:102903933-102903934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11986127	0.88[EUR][1000 genomes]
rs11996557	0.94[EUR][1000 genomes]
rs11997578	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11997754	0.88[EUR][1000 genomes]
rs16868691	0.88[EUR][1000 genomes]
rs16868707	0.88[EUR][1000 genomes]
rs16868710	0.88[EUR][1000 genomes]
rs16868711	0.88[EUR][1000 genomes]
rs16868715	0.88[EUR][1000 genomes]
rs16868730	0.88[EUR][1000 genomes]
rs16868739	0.88[EUR][1000 genomes]
rs16868741	0.88[EUR][1000 genomes]
rs34561956	0.88[EUR][1000 genomes]
rs35690650	0.88[EUR][1000 genomes]
rs55754486	0.94[EUR][1000 genomes]
rs55824424	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55897683	0.88[EUR][1000 genomes]
rs55939093	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57350304	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs58938702	0.88[EUR][1000 genomes]
rs59182464	0.85[AFR][1000 genomes]
rs59217267	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59278862	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs59332201	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61185137	0.88[EUR][1000 genomes]
rs61308131	0.80[AFR][1000 genomes]
rs61383411	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7005622	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73280871	0.94[EUR][1000 genomes]
rs73280876	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73280878	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73280879	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73280880	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73280885	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73280888	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73280891	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73280899	0.88[EUR][1000 genomes]
rs73282603	0.88[EUR][1000 genomes]
rs73282609	0.88[EUR][1000 genomes]
rs73282612	0.88[EUR][1000 genomes]
rs73282613	0.88[EUR][1000 genomes]
rs73282614	0.88[EUR][1000 genomes]
rs73282618	0.88[EUR][1000 genomes]
rs73282620	0.88[EUR][1000 genomes]
rs73290530	0.88[EUR][1000 genomes]
rs73696550	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73696551	0.94[EUR][1000 genomes]
rs73696560	0.88[EUR][1000 genomes]
rs73696564	0.88[EUR][1000 genomes]
rs73696586	0.88[EUR][1000 genomes]
rs7816729	0.94[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:36 , 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	chr8:102899800-102904000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:102901400-102904000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:102902200-102905000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:102902400-102910000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:102902600-102904000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:102902600-102904200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:102902800-102904000	Weak transcription	Psoas Muscle	Psoas
12	chr8:102902800-102904200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:102903000-102904000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:102903000-102910000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:102903200-102904000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:102903400-102904200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:102903600-102904200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:102903600-102904200	Active TSS	Duodenum Mucosa	Duodenum
19	chr8:102903600-102904600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:102903600-102905000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr8:102903600-102905000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:102903800-102904000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:102903800-102904000	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr8:102903800-102904200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:102903800-102904200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:102903800-102904200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:102903800-102904200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:102903800-102904200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:102903800-102904200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:102903800-102904200	Active TSS	Colonic Mucosa	Colon
31	chr8:102903800-102904200	Active TSS	Placenta	Placenta
32	chr8:102903800-102904200	Enhancers	Gastric	stomach
33	chr8:102903800-102904200	Enhancers	Stomach Mucosa	stomach
34	chr8:102903800-102904200	Active TSS	Hela-S3	cervix
35	chr8:102903800-102904200	Active TSS	K562	blood
36	chr8:102903800-102904200	Active TSS	Monocytes-CD14+_RO01746	blood

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