Variant report

Variant	rs558895
Chromosome Location	chr1:196242764-196242765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10399833	0.81[EUR][1000 genomes]
rs12060609	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067586	0.80[ASN][1000 genomes]
rs12071084	1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12082579	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12092252	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1325299	1.00[ASN][1000 genomes]
rs1925337	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1998652	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2477556	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs59729886	0.90[ASN][1000 genomes]
rs606473	1.00[ASN][1000 genomes]
rs994454	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872952	chr1:196174790-196304223	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv548741	chr1:196186750-196293493	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832237	chr1:196205674-196328500	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196214600-196247800	Weak transcription	Ovary	ovary
2	chr1:196234800-196248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:196234800-196252200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:196234800-196255400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:196236400-196248600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:196236600-196247800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:196236800-196249400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:196237000-196246000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:196237000-196249800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:196237000-196253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:196237200-196253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:196237800-196245400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:196240000-196252200	Weak transcription	Fetal Lung	lung
14	chr1:196240200-196252000	Weak transcription	Fetal Stomach	stomach
15	chr1:196242600-196251800	Strong transcription	Liver	Liver

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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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