Variant report

Variant	rs2520339
Chromosome Location	chr7:18836460-18836461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10950703	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12533274	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12540265	0.85[EUR][1000 genomes]
rs12699981	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2028016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2073962	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2078868	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2157901	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2588612	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2588625	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6972607	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7779024	0.85[EUR][1000 genomes]
rs7779555	0.85[EUR][1000 genomes]
rs7785216	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7798677	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs929196	0.81[AMR][1000 genomes];0.84[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	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
2	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
3	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
4	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18833000-18837200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:18833000-18837800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:18833200-18837800	Weak transcription	NH-A	brain
4	chr7:18833200-18838000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:18833400-18837400	Weak transcription	Osteobl	bone
6	chr7:18833400-18838000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:18833400-18838000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:18833400-18838000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:18834000-18838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:18834200-18845200	Weak transcription	Aorta	Aorta
11	chr7:18835400-18836800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:18835800-18836800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:18835800-18838400	Weak transcription	Psoas Muscle	Psoas
14	chr7:18836000-18836800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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