Variant report

Variant	rs61306907
Chromosome Location	chr8:118989280-118989281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	8:118988958-118993290..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10097988	1.00[AMR][1000 genomes]
rs10099089	1.00[AMR][1000 genomes]
rs17475246	1.00[AMR][1000 genomes]
rs17475939	1.00[AMR][1000 genomes]
rs17475966	1.00[AMR][1000 genomes]
rs17476338	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476380	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476623	1.00[AMR][1000 genomes]
rs17476700	1.00[AMR][1000 genomes]
rs17476924	1.00[AMR][1000 genomes]
rs17503962	1.00[AMR][1000 genomes]
rs17503990	1.00[AMR][1000 genomes]
rs17504018	1.00[AMR][1000 genomes]
rs17504736	1.00[AMR][1000 genomes]
rs17505086	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505304	1.00[AMR][1000 genomes]
rs17505513	1.00[AMR][1000 genomes]
rs17505610	1.00[AMR][1000 genomes]
rs17505691	1.00[AMR][1000 genomes]
rs17505910	1.00[AMR][1000 genomes]
rs28445582	1.00[AMR][1000 genomes]
rs28592980	1.00[AMR][1000 genomes]
rs56043836	1.00[AMR][1000 genomes]
rs57174831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59593630	1.00[AMR][1000 genomes]
rs73704842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704843	1.00[AMR][1000 genomes]
rs73704896	1.00[AMR][1000 genomes]
rs73704897	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
2	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
3	chr8:118972000-118989600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:118972200-118989600	Weak transcription	HSMM	muscle
5	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:118975400-118992400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:118976600-118991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:118978200-118992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:118978600-118993000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:118979000-118991000	Weak transcription	HepG2	liver
11	chr8:118981200-118990200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:118981200-118992400	Weak transcription	Left Ventricle	heart
13	chr8:118982000-118993800	Weak transcription	Gastric	stomach
14	chr8:118982200-118992200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:118982400-118990000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:118982400-118992000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:118982600-118989800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:118983400-118993000	Weak transcription	Esophagus	oesophagus
19	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
20	chr8:118983800-118992200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:118983800-118992600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:118984000-118989600	Weak transcription	HMEC	breast
23	chr8:118984000-118989800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:118984200-118990200	Weak transcription	Small Intestine	intestine
25	chr8:118984200-118993600	Weak transcription	Fetal Intestine Large	intestine
26	chr8:118984800-118990400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:118985400-118990000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:118985600-118990800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:118986600-118993000	Enhancers	NHLF	lung
30	chr8:118986800-118989800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:118986800-118991200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:118987000-118989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:118987000-118989400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:118987000-118989800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:118987000-118990000	Enhancers	NHDF-Ad	bronchial
36	chr8:118987000-118993600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:118987200-118992200	Weak transcription	Lung	lung
38	chr8:118987200-118992200	Weak transcription	Spleen	Spleen
39	chr8:118987400-118992400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:118987400-118992400	Weak transcription	Right Ventricle	heart
41	chr8:118987400-118992600	Enhancers	Osteobl	bone
42	chr8:118987600-118989800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:118987600-118990400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:118987600-118992200	Weak transcription	Fetal Kidney	kidney
45	chr8:118987600-118994200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:118987800-118989800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:118987800-118990400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:118988000-118989600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:118988000-118989800	Weak transcription	Adipose Nuclei	Adipose
50	chr8:118988000-118989800	Weak transcription	Fetal Stomach	stomach

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