Variant report

Variant	rs669825
Chromosome Location	chr1:216314753-216314754
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs301746	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs301748	1.00[AFR][1000 genomes]
rs301749	1.00[AFR][1000 genomes]
rs301751	1.00[AFR][1000 genomes]
rs3106400	1.00[AFR][1000 genomes]
rs400358	1.00[AFR][1000 genomes]
rs414373	1.00[AFR][1000 genomes]
rs419767	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs440416	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs446247	0.84[AMR][1000 genomes]
rs619629	1.00[AFR][1000 genomes]
rs619803	1.00[AFR][1000 genomes]
rs624102	0.81[EUR][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	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv999211	chr1:216268796-216329336	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216312200-216315000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr1:216313800-216315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:216313800-216315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:216314000-216314800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:216314000-216314800	Enhancers	Fetal Muscle Leg	muscle
6	chr1:216314000-216315000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:216314000-216315000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:216314000-216315200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:216314000-216315200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:216314000-216316800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:216314000-216317800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:216314200-216315000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:216314400-216314800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:216314400-216315000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:216314400-216318000	Weak transcription	Fetal Lung	lung
16	chr1:216314600-216315000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:216314600-216315000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:216314600-216315000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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