Variant report

Variant	rs11572498
Chromosome Location	chr1:217104331-217104332
allele	A/G
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:14)

rs_ID	r²[population]
rs11572499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572510	0.94[EUR][1000 genomes]
rs11572513	0.94[EUR][1000 genomes]
rs17044346	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17044349	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17044372	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17044374	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34783704	0.94[EUR][1000 genomes]
rs34936607	0.94[EUR][1000 genomes]
rs6683415	0.94[EUR][1000 genomes]
rs71643427	0.94[EUR][1000 genomes]
rs7548082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7551571	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7554541	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873179	chr1:217056893-217112871	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv873180	chr1:217073060-217112871	Enhancers Weak transcription Flanking Active TSS Active TSS	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	chr1:217088800-217112000	Weak transcription	Pancreas	Pancrea
2	chr1:217093400-217104800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:217101200-217109600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:217102000-217107200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:217102600-217105200	Enhancers	HMEC	breast
6	chr1:217102600-217105200	Enhancers	NHEK	skin
7	chr1:217102800-217104600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:217102800-217104600	Enhancers	NH-A	brain
9	chr1:217102800-217105000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:217102800-217105000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:217103800-217109600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:217104000-217109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:217104200-217104600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:217104200-217109200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:217104200-217109600	Weak transcription	HUES48 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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