Variant report

Variant	rs7833230
Chromosome Location	chr8:90723000-90723001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11995065	1.00[ASN][1000 genomes]
rs13250228	1.00[ASN][1000 genomes]
rs13256893	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13262484	1.00[ASN][1000 genomes]
rs13265005	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267411	1.00[ASN][1000 genomes]
rs13270337	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274661	0.90[EUR][1000 genomes]
rs13281958	1.00[ASN][1000 genomes]
rs2230801	1.00[ASN][1000 genomes]
rs34038516	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34099903	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34211510	1.00[ASN][1000 genomes]
rs34541191	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35168775	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353289	1.00[ASN][1000 genomes]
rs35469651	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35598276	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35643733	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35741091	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35976220	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36032938	1.00[ASN][1000 genomes]
rs36139021	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532080	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532117	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62533561	0.92[ASN][1000 genomes]
rs6991439	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6998924	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7841459	1.00[ASN][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	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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	45 gene(s)	inside rSNPs	diseases
6	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90710000-90730000	Weak transcription	HSMMtube	muscle
2	chr8:90710200-90729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:90710200-90730400	Weak transcription	A549	lung
4	chr8:90710200-90731200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:90710200-90736200	Weak transcription	Adipose Nuclei	Adipose
6	chr8:90711200-90733800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
8	chr8:90713400-90738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
10	chr8:90714200-90728000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
12	chr8:90714400-90741000	Weak transcription	Gastric	stomach
13	chr8:90714600-90726600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:90714800-90733000	Weak transcription	Placenta	Placenta
15	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:90716800-90738000	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:90717200-90729600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:90717200-90733400	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:90717400-90738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:90717600-90733400	Weak transcription	Aorta	Aorta
22	chr8:90717600-90733800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:90717800-90731200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:90717800-90736200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:90717800-90737800	Weak transcription	NHEK	skin
26	chr8:90717800-90738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:90717800-90738000	Weak transcription	NH-A	brain
28	chr8:90717800-90747800	Weak transcription	Ovary	ovary
29	chr8:90718200-90731000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:90719400-90730800	Weak transcription	HSMM	muscle
31	chr8:90720800-90729800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:90720800-90729800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:90720800-90736000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
35	chr8:90721000-90740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:90721200-90736400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:90721400-90731000	Weak transcription	Fetal Intestine Small	intestine
38	chr8:90721400-90735600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:90721400-90740400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:90721800-90733400	Weak transcription	Fetal Stomach	stomach
41	chr8:90721800-90738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:90722400-90723400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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