Variant report

Variant	rs73492252
Chromosome Location	chr11:63578672-63578673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63571565..63574234-chr11:63577840..63579513,2	K562	blood:
2	chr11:63525704..63527853-chr11:63578506..63580593,2	K562	blood:
3	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
4	chr11:63448233..63451551-chr11:63578408..63582128,5	K562	blood:

Variant related genes	Relation type
ENSG00000133318	Chromatin interaction
ENSG00000168005	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12278871	1.00[ASN][1000 genomes]
rs12285245	1.00[ASN][1000 genomes]
rs12291587	0.92[ASN][1000 genomes]
rs2957205	0.92[ASN][1000 genomes]
rs2959885	0.92[ASN][1000 genomes]
rs3016160	0.92[ASN][1000 genomes]
rs3740635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs510804	0.92[ASN][1000 genomes]
rs580155	1.00[ASN][1000 genomes]
rs598301	1.00[ASN][1000 genomes]
rs623539	0.92[ASN][1000 genomes]
rs7113873	0.92[ASN][1000 genomes]
rs7128971	1.00[AMR][1000 genomes]
rs73492249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63567600-63580000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:63570600-63579200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:63570600-63580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:63570800-63578800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:63571000-63578800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:63571000-63578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:63571000-63580000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:63571000-63580000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:63571000-63580000	Weak transcription	A549	lung
10	chr11:63571200-63578800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:63571800-63580000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:63572000-63578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:63572000-63580000	Weak transcription	Osteobl	bone
14	chr11:63572200-63580000	Weak transcription	HMEC	breast
15	chr11:63572400-63580000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:63572600-63580000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:63572600-63580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:63572800-63580000	Weak transcription	Colonic Mucosa	Colon
19	chr11:63573800-63580000	Weak transcription	Ovary	ovary
20	chr11:63573800-63580200	Weak transcription	Left Ventricle	heart
21	chr11:63574000-63580000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:63574000-63580200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:63575200-63579000	Weak transcription	Hela-S3	cervix
24	chr11:63575200-63580000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:63575400-63580000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:63575800-63580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:63577400-63579000	Enhancers	Placenta	Placenta
28	chr11:63577400-63579000	Enhancers	HepG2	liver
29	chr11:63578200-63579200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:63578200-63579400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:63578600-63579400	Enhancers	K562	blood
32	chr11:63578600-63580000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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