Variant report

Variant	rs11224458
Chromosome Location	chr11:100669107-100669108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10895015	0.83[AFR][1000 genomes]
rs10895017	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224444	0.93[ASN][1000 genomes]
rs11224451	0.93[ASN][1000 genomes]
rs11224453	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11224455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224456	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224462	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224463	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11224466	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224468	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224470	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12361454	0.96[ASN][1000 genomes]
rs17095535	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs495604	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs515584	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs545547	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57657599	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs630425	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933429	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7941596	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100645600-100679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:100645800-100679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:100654400-100671200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:100656600-100679600	Weak transcription	Fetal Lung	lung
5	chr11:100657000-100675600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:100660400-100669400	Weak transcription	Placenta	Placenta
7	chr11:100660400-100679400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:100660400-100679600	Weak transcription	Stomach Mucosa	stomach
9	chr11:100660400-100683600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:100660600-100671000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:100660600-100675600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:100660600-100679600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:100660600-100679600	Weak transcription	HSMM	muscle
14	chr11:100660600-100680000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:100660600-100680400	Weak transcription	Left Ventricle	heart
16	chr11:100661000-100671800	Weak transcription	Liver	Liver
17	chr11:100662000-100669400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:100662600-100679600	Weak transcription	Fetal Heart	heart
19	chr11:100663000-100691800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:100663200-100679600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:100663200-100679600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:100663400-100679800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:100664600-100669400	Weak transcription	HUVEC	blood vessel
24	chr11:100665400-100672600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:100666400-100679600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:100666600-100669200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:100667200-100685200	Weak transcription	Primary B cells from cord blood	blood
28	chr11:100667800-100679600	Weak transcription	Fetal Intestine Small	intestine
29	chr11:100669000-100669800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:100669000-100669800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:100669000-100669800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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