Variant report

Variant	rs6999612
Chromosome Location	chr8:19803084-19803085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10092137	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10092531	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10092538	1.00[EUR][1000 genomes]
rs10099404	1.00[EUR][1000 genomes]
rs10102021	1.00[EUR][1000 genomes]
rs10102032	0.91[EUR][1000 genomes]
rs10102045	1.00[EUR][1000 genomes]
rs10102876	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10107119	1.00[EUR][1000 genomes]
rs10111437	1.00[EUR][1000 genomes]
rs1031045	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10503667	1.00[EUR][1000 genomes]
rs11992664	1.00[EUR][1000 genomes]
rs11997573	1.00[EUR][1000 genomes]
rs1470186	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17091738	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17091742	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17482338	1.00[EUR][1000 genomes]
rs1800590	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1801177	1.00[EUR][1000 genomes]
rs2410615	0.91[EUR][1000 genomes]
rs28371439	1.00[EUR][1000 genomes]
rs28445964	1.00[EUR][1000 genomes]
rs28522139	1.00[EUR][1000 genomes]
rs28568947	1.00[EUR][1000 genomes]
rs28575919	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28582042	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28615996	1.00[EUR][1000 genomes]
rs28645722	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28689946	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28786747	1.00[EUR][1000 genomes]
rs35469180	0.91[EUR][1000 genomes]
rs3854905	1.00[EUR][1000 genomes]
rs3900537	1.00[EUR][1000 genomes]
rs3951339	1.00[EUR][1000 genomes]
rs4368997	1.00[EUR][1000 genomes]
rs56043715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59811201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60633545	1.00[EUR][1000 genomes]
rs60901125	1.00[EUR][1000 genomes]
rs6586879	1.00[EUR][1000 genomes]
rs6984990	1.00[EUR][1000 genomes]
rs6995406	1.00[EUR][1000 genomes]
rs6996383	1.00[EUR][1000 genomes]
rs6997330	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6998260	1.00[EUR][1000 genomes]
rs7000460	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008626	0.91[EUR][1000 genomes]
rs7009128	0.83[EUR][1000 genomes]
rs7016529	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73667455	1.00[EUR][1000 genomes]
rs73667459	1.00[EUR][1000 genomes]
rs73667461	1.00[EUR][1000 genomes]
rs73667462	1.00[EUR][1000 genomes]
rs73667463	1.00[EUR][1000 genomes]
rs73667465	1.00[EUR][1000 genomes]
rs73667468	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73667469	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73667470	0.91[EUR][1000 genomes]
rs7818864	1.00[EUR][1000 genomes]
rs7835874	1.00[EUR][1000 genomes]
rs7840666	1.00[EUR][1000 genomes]
rs7840815	1.00[EUR][1000 genomes]
rs7840959	1.00[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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19798200-19818400	Weak transcription	K562	blood
2	chr8:19798400-19805800	Weak transcription	Aorta	Aorta
3	chr8:19798600-19808400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:19798600-19813400	Weak transcription	Ovary	ovary
5	chr8:19798600-19824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:19798800-19805800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:19799000-19813200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:19799400-19807200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:19799600-19805800	Weak transcription	Lung	lung
10	chr8:19799800-19813000	Weak transcription	Fetal Brain Female	brain
11	chr8:19799800-19819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:19800000-19805600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:19800800-19823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:19801000-19805800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:19801000-19805800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:19801400-19811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:19801800-19805600	Weak transcription	Brain Anterior Caudate	brain
18	chr8:19802000-19805200	Weak transcription	Right Ventricle	heart
19	chr8:19802600-19811400	Weak transcription	Brain Germinal Matrix	brain
20	chr8:19802600-19813000	Weak transcription	Fetal Brain Male	brain
21	chr8:19802800-19804000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:19802800-19805000	Weak transcription	Fetal Heart	heart
23	chr8:19802800-19805000	Weak transcription	Fetal Lung	lung
24	chr8:19802800-19805000	Weak transcription	Left Ventricle	heart
25	chr8:19802800-19805600	Weak transcription	Psoas Muscle	Psoas
26	chr8:19803000-19804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:19803000-19804400	Enhancers	Adipose Nuclei	Adipose

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