Variant report

Variant	rs58277500
Chromosome Location	chr11:102190889-102190890
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102190377..102192046-chr11:102220523..102222803,2	MCF-7	breast:
2	chr11:102189545..102191637-chr11:102216334..102218108,2	K562	blood:
3	chr11:102138424..102140311-chr11:102188634..102190970,2	MCF-7	breast:
4	chr11:102188890..102192492-chr11:102192509..102196398,3	MCF-7	breast:
5	chr11:102188098..102191031-chr11:102194628..102197426,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110330	Chromatin interaction
ENSG00000023445	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10501998	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10501999	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11225201	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11225202	0.92[ASN][1000 genomes]
rs11225203	0.93[ASN][1000 genomes]
rs11600522	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11602147	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11606268	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12098902	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12280343	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576911	0.87[ASN][1000 genomes]
rs12787745	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12789170	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12794196	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17763827	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17763887	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17769417	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17878708	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894113	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894114	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1894115	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2408344	0.92[ASN][1000 genomes]
rs2511293	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511295	0.93[ASN][1000 genomes]
rs2604526	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2604527	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2604533	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2846848	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2846849	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2846857	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2846858	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2852879	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852880	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2852881	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2852882	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2852891	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3132831	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35612369	0.89[ASN][1000 genomes]
rs61893629	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7480738	0.92[ASN][1000 genomes]
rs7924744	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7928663	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931341	0.88[ASN][1000 genomes]
rs7938790	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9665961	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58277500	BIRC3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102187200-102191000	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:102187400-102191400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:102187400-102191400	Active TSS	GM12878-XiMat	blood
4	chr11:102187600-102191000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr11:102187600-102192400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:102188200-102193800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:102188400-102191400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:102188400-102192800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr11:102188800-102191200	Weak transcription	Brain Angular Gyrus	brain
10	chr11:102188800-102191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:102188800-102193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:102188800-102193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
14	chr11:102189000-102191000	Weak transcription	Brain Anterior Caudate	brain
15	chr11:102189000-102191400	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:102189000-102191600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:102189000-102193200	Weak transcription	NH-A	brain
18	chr11:102189200-102191200	Weak transcription	Brain Substantia Nigra	brain
19	chr11:102189200-102193600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:102189200-102194200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
21	chr11:102189200-102197600	Weak transcription	Fetal Intestine Small	intestine
22	chr11:102189400-102191000	Weak transcription	Lung	lung
23	chr11:102189400-102192800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
24	chr11:102189400-102193400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:102189400-102193600	Weak transcription	HSMM	muscle
26	chr11:102189400-102194200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:102189400-102197400	Weak transcription	Adipose Nuclei	Adipose
28	chr11:102189400-102205800	Weak transcription	Psoas Muscle	Psoas
29	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
31	chr11:102189600-102191200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:102189600-102191200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:102189600-102191200	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:102189600-102191600	Enhancers	Colon Smooth Muscle	Colon
35	chr11:102189600-102192800	Weak transcription	NHDF-Ad	bronchial
36	chr11:102189600-102192800	Weak transcription	NHLF	lung
37	chr11:102189600-102193000	Weak transcription	NHEK	skin
38	chr11:102189600-102193600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:102189600-102193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:102189600-102194400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:102189600-102200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:102189600-102200800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:102189600-102200800	Weak transcription	Left Ventricle	heart
44	chr11:102189800-102191000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:102189800-102191600	Enhancers	Stomach Mucosa	stomach
46	chr11:102189800-102192800	Weak transcription	Osteobl	bone
47	chr11:102189800-102194000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:102189800-102194400	Weak transcription	HMEC	breast
49	chr11:102189800-102196200	Weak transcription	Liver	Liver
50	chr11:102190000-102191400	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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