Variant report

Variant	rs62446605
Chromosome Location	chr7:18810558-18810559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1011446	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266741	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10280633	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10950703	0.90[ASN][1000 genomes]
rs12535294	0.80[ASN][1000 genomes]
rs12539715	0.83[ASN][1000 genomes]
rs12540265	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12699981	0.95[ASN][1000 genomes]
rs2028012	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2028013	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2028014	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2028016	0.87[ASN][1000 genomes]
rs2073962	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2078866	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2078868	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2078869	0.80[ASN][1000 genomes]
rs2157901	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2257696	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2519742	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2519744	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2519745	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2519746	0.80[ASN][1000 genomes]
rs2520345	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2520360	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2588595	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2588596	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2588597	0.80[ASN][1000 genomes]
rs2588599	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2588600	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2588601	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2588602	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2588603	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2588604	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2588605	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2588623	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2588625	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2588627	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3844320	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3852250	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3854290	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3855596	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3901892	0.80[ASN][1000 genomes]
rs4721725	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62446608	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6461384	0.80[ASN][1000 genomes]
rs6951973	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6972607	0.87[ASN][1000 genomes]
rs7779024	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7779555	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7782894	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7783209	0.91[ASN][1000 genomes]
rs7785216	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7798677	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7801849	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs929196	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:18787800-18810800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:18802400-18810800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:18807200-18811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:18807600-18812200	Enhancers	HSMM	muscle
7	chr7:18807600-18812400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:18807800-18810600	Enhancers	HSMMtube	muscle
9	chr7:18807800-18812000	Enhancers	NHDF-Ad	bronchial
10	chr7:18808000-18811800	Weak transcription	Fetal Brain Female	brain
11	chr7:18808200-18823200	Weak transcription	Aorta	Aorta
12	chr7:18808800-18810600	Enhancers	HMEC	breast
13	chr7:18808800-18811000	Enhancers	NHLF	lung
14	chr7:18808800-18811200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:18808800-18812000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:18808800-18812400	Enhancers	NHEK	skin
17	chr7:18809000-18810800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:18809600-18810600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:18809600-18810800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:18809600-18812600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:18809800-18811800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:18810000-18810600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:18810000-18810800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:18810000-18810800	Flanking Active TSS	Osteobl	bone
25	chr7:18810000-18811400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:18810000-18812400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:18810200-18810600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:18810200-18811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:18810400-18810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:18810400-18811200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:18810400-18811800	Enhancers	NH-A	brain
32	chr7:18810400-18812200	Enhancers	Muscle Satellite Cultured Cells	--

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