Variant report

Variant	rs520360
Chromosome Location	chr11:71852973-71852974
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71817497..71819718-chr11:71852568..71855106,2	MCF-7	breast:
2	chr11:71821717..71826052-chr11:71851780..71856774,7	MCF-7	breast:
3	chr11:71822348..71825348-chr11:71852319..71854832,3	MCF-7	breast:
4	chr11:71851522..71853498-chr11:71890827..71892489,2	K562	blood:

Variant related genes	Relation type
ENSG00000110200	Chromatin interaction
ENSG00000110203	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10751196	0.88[ASN][1000 genomes]
rs2212468	0.81[ASN][1000 genomes]
rs2508873	0.85[ASN][1000 genomes]
rs28490487	0.88[ASN][1000 genomes]
rs4341565	0.82[EUR][1000 genomes]
rs4630325	0.89[ASN][1000 genomes]
rs490201	0.89[ASN][1000 genomes]
rs495825	0.94[EUR][1000 genomes]
rs550638	0.88[ASN][1000 genomes]
rs555306	0.88[ASN][1000 genomes]
rs575341	0.88[ASN][1000 genomes]
rs575542	0.88[ASN][1000 genomes]
rs590586	0.85[ASN][1000 genomes]
rs59684857	0.89[ASN][1000 genomes]
rs607629	0.85[ASN][1000 genomes]
rs619237	0.82[ASN][1000 genomes]
rs649089	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650372	0.88[EUR][1000 genomes]
rs667351	0.85[ASN][1000 genomes]
rs670507	0.85[ASN][1000 genomes]
rs682244	0.88[ASN][1000 genomes]
rs693273	0.84[ASN][1000 genomes]
rs7123197	0.89[ASN][1000 genomes]
rs7949807	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv1054858	chr11:71847797-71880291	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3493111	chr11:71850822-71893073	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3493112	chr11:71850822-71893073	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv435918	chr11:71851427-71890983	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv5948	chr11:71851479-71890582	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3359634	chr11:71851533-71892403	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2513904	chr11:71852934-71892793	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs520360	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71846800-71853400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:71848400-71854600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:71849800-71853600	Genic enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:71850600-71853400	Enhancers	NHDF-Ad	bronchial
5	chr11:71850800-71853000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:71850800-71853200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:71850800-71853400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:71850800-71853400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:71850800-71853600	Enhancers	Hela-S3	cervix
10	chr11:71850800-71856200	Enhancers	HMEC	breast
11	chr11:71851000-71853200	Enhancers	Placenta	Placenta
12	chr11:71851000-71853400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:71851200-71856200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:71851400-71853400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:71851600-71853200	Genic enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:71851800-71853200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:71851800-71853200	Enhancers	NHLF	lung
18	chr11:71852000-71853200	Enhancers	HSMMtube	muscle
19	chr11:71852200-71854800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:71852400-71853000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:71852400-71853000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr11:71852600-71853000	Weak transcription	Primary B cells from cord blood	blood
23	chr11:71852600-71853000	Flanking Active TSS	NHEK	skin
24	chr11:71852600-71853400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:71852600-71853400	Enhancers	NH-A	brain
26	chr11:71852600-71853800	Enhancers	Fetal Thymus	thymus
27	chr11:71852600-71854400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:71852800-71853000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:71852800-71853400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:71852800-71853400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:71852800-71853400	Enhancers	Osteobl	bone
32	chr11:71852800-71853600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:71852800-71853600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:71852800-71853600	Enhancers	HSMM	muscle
35	chr11:71852800-71855000	Weak transcription	A549	lung

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