Variant report

Variant	rs11133313
Chromosome Location	chr4:55081757-55081758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55080360..55082057-chr4:55084802..55087150,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11133312	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133314	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499153	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12501810	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12505054	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506783	0.83[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139131	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1800810	0.89[AFR][1000 genomes]
rs1800812	0.81[LWK][hapmap]
rs2052697	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28436914	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753397	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34521751	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4398585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864842	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864855	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864856	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864859	0.88[AFR][1000 genomes]
rs4864860	0.90[AFR][1000 genomes]
rs6554159	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6554161	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6554163	0.89[YRI][hapmap]
rs67432867	0.81[AFR][1000 genomes]
rs6819779	0.81[EUR][1000 genomes]
rs6825018	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6836215	0.88[YRI][hapmap]
rs6845581	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6850748	0.83[LWK][hapmap]
rs718454	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718455	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252942	0.81[AFR][1000 genomes]
rs7673267	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673853	0.87[AFR][1000 genomes]
rs7678144	0.83[LWK][hapmap]
rs7682912	0.88[JPT][hapmap]
rs7683707	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690503	0.88[AFR][1000 genomes]
rs890206	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11133313	ANKRD24	trans	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55079000-55083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:55079400-55083600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:55079800-55083600	Weak transcription	Osteobl	bone
4	chr4:55079800-55083800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:55080000-55081800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:55080000-55083600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:55080000-55083800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:55080000-55083800	Weak transcription	Esophagus	oesophagus
9	chr4:55080000-55083800	Weak transcription	Right Ventricle	heart
10	chr4:55080200-55081800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:55080200-55083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:55080200-55083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:55080200-55083800	Weak transcription	Ovary	ovary
14	chr4:55080200-55083800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:55080400-55081800	Weak transcription	NHDF-Ad	bronchial
16	chr4:55080400-55083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:55080400-55083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:55080400-55083800	Weak transcription	Hela-S3	cervix
19	chr4:55080400-55083800	Weak transcription	HMEC	breast
20	chr4:55080600-55083600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:55080600-55083600	Weak transcription	Left Ventricle	heart
22	chr4:55080600-55083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:55080600-55083800	Weak transcription	HUVEC	blood vessel
24	chr4:55080600-55083800	Weak transcription	NHEK	skin
25	chr4:55081200-55082000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:55081200-55083000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:55081600-55081800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:55081600-55081800	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr4:55081600-55081800	Enhancers	Small Intestine	intestine
30	chr4:55081600-55082000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:55081600-55082000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:55081600-55082400	Enhancers	NHLF	lung

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