Variant report

Variant	rs11998684
Chromosome Location	chr8:58963037-58963038
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	chr8:58959136..58960793-chr8:58960961..58963378,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10086632	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs10089240	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10091875	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10099623	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs10504246	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs1105302	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs11783171	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12114333	0.88[EUR][1000 genomes]
rs12155558	0.97[ASN][1000 genomes]
rs12156321	0.85[CHB][hapmap]
rs13249102	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs13252750	0.86[EUR][1000 genomes]
rs13263290	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13263507	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs13273891	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13277246	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs13279262	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs16922941	0.85[CHB][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs16922990	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs17175390	0.85[CHB][hapmap]
rs17175804	0.85[CHB][hapmap]
rs17175965	0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs17239590	0.85[JPT][hapmap]
rs17254739	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs17835765	0.85[JPT][hapmap]
rs34915140	0.86[EUR][1000 genomes]
rs35124619	0.84[EUR][1000 genomes]
rs35350559	0.97[ASN][1000 genomes]
rs35786251	0.82[ASN][1000 genomes]
rs35856042	0.85[EUR][1000 genomes]
rs35856598	0.82[ASN][1000 genomes]
rs35979674	0.97[ASN][1000 genomes]
rs4407868	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs4452790	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs4498527	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs4524775	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs4524776	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs55930039	0.86[EUR][1000 genomes]
rs56128341	0.86[EUR][1000 genomes]
rs57650783	0.87[EUR][1000 genomes]
rs58124183	0.86[EUR][1000 genomes]
rs60265023	0.96[EUR][1000 genomes]
rs6984700	0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6988260	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6991555	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6994434	0.86[EUR][1000 genomes]
rs6997924	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6999606	0.86[EUR][1000 genomes]
rs7000317	0.97[ASN][1000 genomes]
rs7009526	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs7010934	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs7017824	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs72662407	0.82[ASN][1000 genomes]
rs7823853	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7826402	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs7835676	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7841308	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs7841370	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7842565	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9297984	0.90[CEU][hapmap];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58949400-58966800	Weak transcription	Liver	Liver
3	chr8:58951800-58963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:58952000-58964200	Weak transcription	Osteobl	bone
5	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
7	chr8:58954400-58973200	Weak transcription	Psoas Muscle	Psoas
8	chr8:58955200-58974400	Weak transcription	Fetal Brain Male	brain
9	chr8:58956000-58969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:58958000-58964000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:58958000-58969400	Weak transcription	HSMM	muscle
12	chr8:58958000-58979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:58958200-58968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:58959600-58964600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:58960000-58963800	Enhancers	Fetal Kidney	kidney
16	chr8:58960400-58963200	Enhancers	Colon Smooth Muscle	Colon
17	chr8:58960800-58963400	Weak transcription	NHLF	lung
18	chr8:58960800-58963800	Weak transcription	HepG2	liver
19	chr8:58960800-58964000	Enhancers	Fetal Heart	heart
20	chr8:58960800-58964200	Enhancers	Ovary	ovary
21	chr8:58961200-58964000	Enhancers	Brain Anterior Caudate	brain
22	chr8:58961400-58963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:58961400-58963200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:58961400-58963400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:58961400-58969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:58961600-58963600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:58961800-58963200	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:58962000-58968200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:58962200-58963600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:58962200-58964400	Weak transcription	NHDF-Ad	bronchial
31	chr8:58962200-58964600	Enhancers	Fetal Lung	lung
32	chr8:58962400-58964200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:58962600-58963200	Enhancers	Fetal Brain Female	brain
34	chr8:58962600-58963400	Enhancers	Spleen	Spleen
35	chr8:58962800-58963600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:58962800-58963600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:58962800-58963800	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:58962800-58963800	Enhancers	Brain Germinal Matrix	brain
39	chr8:58962800-58963800	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:58962800-58963800	Enhancers	Gastric	stomach
41	chr8:58962800-58963800	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:58962800-58963800	Enhancers	Right Ventricle	heart
43	chr8:58962800-58963800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:58962800-58964000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:58962800-58964000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:58962800-58964000	Enhancers	Lung	lung
47	chr8:58962800-58964200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:58962800-58964800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:58963000-58963400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:58963000-58963400	Genic enhancers	Fetal Stomach	stomach

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