Variant report

Variant	rs66817037
Chromosome Location	chr8:113685662-113685663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1019603	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10505190	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10505191	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10505192	0.86[EUR][1000 genomes]
rs10505193	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10955633	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12114545	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12114638	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12677225	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12677918	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12679365	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12682342	0.83[EUR][1000 genomes]
rs1549351	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549352	0.85[EUR][1000 genomes]
rs1549353	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16884004	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16884034	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16884039	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16884044	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16884046	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16884089	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16884093	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16884096	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1863088	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1991134	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1991135	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2052635	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2194597	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4582593	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4876291	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4876292	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4876293	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4876483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876484	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876492	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56859083	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61498012	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6469435	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6469436	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6469438	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6469439	0.81[AMR][1000 genomes]
rs67112531	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67545147	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67594301	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67838088	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68078492	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6993756	0.83[EUR][1000 genomes]
rs7002262	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7820108	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7820337	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826001	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7826958	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7837037	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7845849	0.82[EUR][1000 genomes]
rs9649935	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9650049	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9918857	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891324	chr8:113647451-113732965	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113683800-113688600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:113684200-113686000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:113684200-113688000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:113684200-113688000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:113684400-113686400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:113684600-113687600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:113684600-113688200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:113684600-113688400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:113684600-113690200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:113684800-113686000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:113684800-113687200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:113685000-113686000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:113685000-113686000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:113685200-113685800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:113685200-113686800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:113685200-113686800	Flanking Active TSS	HMEC	breast
17	chr8:113685200-113687000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:113685400-113685800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:113685400-113686400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:113685400-113687800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:113685600-113686000	Active TSS	NHEK	skin
22	chr8:113685600-113686400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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