Variant report

Variant	rs11811038
Chromosome Location	chr1:209545391-209545392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1006316	0.85[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap]
rs1006317	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12135550	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12140933	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12142844	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12142846	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.88[LWK][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1354851	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.88[LWK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1354853	0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap]
rs1507336	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs17014332	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17014337	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs17014370	0.85[CHB][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap]
rs17014375	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs17014395	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs17014396	0.85[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs1857967	0.89[CEU][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1986792	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4844815	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs55717527	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56265166	0.89[EUR][1000 genomes]
rs6667906	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6681466	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs74155473	0.81[AMR][1000 genomes]
rs7516864	0.81[JPT][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	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209526400-209545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:209529800-209547000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:209535800-209550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:209536000-209545600	Enhancers	HMEC	breast
5	chr1:209536800-209548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:209537600-209548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:209538000-209547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:209539800-209545600	Enhancers	Fetal Brain Male	brain
9	chr1:209540400-209549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:209540600-209546200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:209541200-209548600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:209542400-209547000	Weak transcription	Esophagus	oesophagus
13	chr1:209542400-209548800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:209542600-209548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:209542600-209549200	Weak transcription	A549	lung
16	chr1:209543000-209546800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:209543200-209548400	Weak transcription	NHLF	lung
18	chr1:209543200-209548600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:209543200-209548800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:209543400-209548400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:209543400-209548400	Weak transcription	Hela-S3	cervix
22	chr1:209543400-209548400	Weak transcription	Osteobl	bone
23	chr1:209543600-209548600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:209544000-209545800	Enhancers	NHEK	skin
25	chr1:209544000-209549000	Weak transcription	Fetal Lung	lung
26	chr1:209544400-209550200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:209544600-209548600	Weak transcription	Fetal Brain Female	brain
28	chr1:209545200-209546600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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