Variant report

Variant	rs10248070
Chromosome Location	chr7:18835449-18835450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10215908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10231651	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10234468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234685	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10245511	1.00[JPT][hapmap]
rs10248443	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10258269	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10261308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10281362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2519739	1.00[JPT][hapmap]
rs28811631	0.88[ASN][1000 genomes]
rs3852251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3852252	0.88[ASN][1000 genomes]
rs56036745	0.91[ASN][1000 genomes]
rs7777331	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7790376	0.85[ASN][1000 genomes]
rs7798646	1.00[JPT][hapmap]
rs9655161	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[ASN][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:12 , 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	chr7:18833800-18835800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:18834000-18838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:18834200-18845200	Weak transcription	Aorta	Aorta
12	chr7:18835400-18836800	Enhancers	HUES48 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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