Variant report

Variant	rs11119308
Chromosome Location	chr1:209728049-209728050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11119309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12058586	1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs12074063	0.80[ASN][1000 genomes]
rs17014758	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17014770	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17014799	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17014808	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17014825	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17014842	0.84[CHB][hapmap];0.83[CHD][hapmap]
rs2072908	0.85[CHB][hapmap]
rs2076225	0.89[CHB][hapmap]
rs6690557	0.95[CHB][hapmap]
rs7512091	0.85[CHB][hapmap]
rs926385	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9429821	0.95[CHB][hapmap]
rs9430000	1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs9430001	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 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	chr1:209720600-209728200	Weak transcription	Esophagus	oesophagus
2	chr1:209726000-209730000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:209726400-209729000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:209726400-209735600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:209726600-209737800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:209726800-209738400	Weak transcription	NHEK	skin
7	chr1:209727000-209728200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:209727000-209729000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:209727000-209729000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:209727000-209729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:209727000-209729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:209727000-209734000	Weak transcription	HSMM	muscle
13	chr1:209727000-209737600	Weak transcription	HMEC	breast
14	chr1:209727200-209728800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:209727200-209729200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:209727600-209729200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr1:209727800-209728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:209727800-209730000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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

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