Variant report

Variant	rs17424247
Chromosome Location	chr8:21027825-21027826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13252980	0.83[AFR][1000 genomes]
rs13261360	0.83[AFR][1000 genomes]
rs1460975	0.83[AFR][1000 genomes]
rs1460979	0.83[AFR][1000 genomes]
rs17495841	0.83[AFR][1000 genomes]
rs17495898	0.83[AFR][1000 genomes]
rs1841509	0.83[AFR][1000 genomes]
rs34074802	0.83[AFR][1000 genomes]
rs34226603	0.83[AFR][1000 genomes]
rs34284335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34882429	0.83[AFR][1000 genomes]
rs34914411	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34969903	0.83[AFR][1000 genomes]
rs35057769	0.83[AFR][1000 genomes]
rs35106026	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35417410	0.83[AFR][1000 genomes]
rs35425497	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35484396	1.00[AFR][1000 genomes]
rs35789651	0.83[AFR][1000 genomes]
rs35853955	0.83[AFR][1000 genomes]
rs36096496	0.83[AFR][1000 genomes]
rs36183284	0.83[AFR][1000 genomes]
rs4582551	0.83[AFR][1000 genomes]
rs71513807	0.83[AFR][1000 genomes]
rs71513808	0.83[AFR][1000 genomes]
rs71513809	0.83[AFR][1000 genomes]
rs71513810	0.83[AFR][1000 genomes]
rs71513815	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1034265	chr8:20742935-21152545	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv539528	chr8:20742935-21152545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831260	chr8:20907266-21097125	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv469878	chr8:20955260-21128307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv482339	chr8:20955260-21128307	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv831261	chr8:20996095-21193619	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv890649	chr8:21001379-21171259	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1023459	chr8:21023591-21042178	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:21024600-21028200	Enhancers	Colonic Mucosa	Colon
2	chr8:21026000-21028600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr8:21026400-21028600	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr8:21026400-21029800	Enhancers	Fetal Brain Male	brain
5	chr8:21026800-21028200	Bivalent Enhancer	Fetal Stomach	stomach
6	chr8:21026800-21028800	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:21027000-21028000	Enhancers	Fetal Thymus	thymus
8	chr8:21027000-21028000	Enhancers	Spleen	Spleen
9	chr8:21027000-21028200	Enhancers	Lung	lung
10	chr8:21027000-21028400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:21027200-21028000	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr8:21027200-21028000	Enhancers	Fetal Lung	lung
13	chr8:21027200-21028200	Enhancers	Gastric	stomach
14	chr8:21027200-21028400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr8:21027200-21028800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:21027400-21029600	Weak transcription	Right Ventricle	heart
17	chr8:21027400-21029800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:21027600-21028000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr8:21027600-21028000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:21027600-21028400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:21027600-21028400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:21027600-21028400	Enhancers	Fetal Brain Female	brain
23	chr8:21027800-21028000	Enhancers	Right Atrium	heart
24	chr8:21027800-21028400	Enhancers	Fetal Intestine Large	intestine
25	chr8:21027800-21028800	Enhancers	Brain Germinal Matrix	brain
26	chr8:21027800-21030400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:21027800-21031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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