Variant report

Variant	rs41369045
Chromosome Location	chr13:50819594-50819595
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	chr13:50697519..50700098-chr13:50819496..50821054,2	MCF-7	breast:
2	chr13:50818703..50821779-chr13:50825797..50828138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1149846	0.86[ASN][1000 genomes]
rs11617027	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050063	0.84[ASN][1000 genomes]
rs17074055	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1924369	0.88[ASN][1000 genomes]
rs2066694	0.92[ASN][1000 genomes]
rs2066695	0.87[ASN][1000 genomes]
rs55810037	0.84[AFR][1000 genomes]
rs55901275	0.84[AFR][1000 genomes]
rs56151151	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155205	0.84[AFR][1000 genomes]
rs57897284	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61962179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495890	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806299	0.90[ASN][1000 genomes]
rs9562953	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9562955	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568386	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568389	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568393	0.92[AFR][1000 genomes];0.81[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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50812600-50822600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:50817800-50820000	Enhancers	K562	blood
3	chr13:50818000-50819800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50818000-50819800	Enhancers	NHLF	lung
5	chr13:50818000-50820000	Enhancers	NHDF-Ad	bronchial
6	chr13:50818200-50819800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:50818200-50819800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:50818200-50819800	Enhancers	HUVEC	blood vessel
9	chr13:50818200-50819800	Enhancers	NH-A	brain
10	chr13:50818200-50820000	Enhancers	Hela-S3	cervix
11	chr13:50818200-50820200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr13:50818400-50819800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:50818400-50819800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr13:50818400-50819800	Enhancers	Duodenum Mucosa	Duodenum
15	chr13:50818400-50819800	Enhancers	GM12878-XiMat	blood
16	chr13:50818400-50819800	Enhancers	HSMMtube	muscle
17	chr13:50818400-50820000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:50818400-50820200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:50818600-50819600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr13:50818600-50819600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr13:50818600-50819800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:50818600-50819800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr13:50818600-50819800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:50818600-50819800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:50818600-50819800	Enhancers	Fetal Thymus	thymus
26	chr13:50818600-50819800	Enhancers	Stomach Mucosa	stomach
27	chr13:50818600-50819800	Enhancers	HSMM	muscle
28	chr13:50818600-50820000	Enhancers	HMEC	breast
29	chr13:50818600-50820000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr13:50818600-50820000	Enhancers	Osteobl	bone
31	chr13:50818600-50820200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:50818600-50820200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:50818800-50819600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:50818800-50820000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:50818800-50820000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:50819000-50819600	Enhancers	Primary B cells from peripheral blood	blood
37	chr13:50819000-50819600	Enhancers	Thymus	Thymus
38	chr13:50819000-50819800	Enhancers	Liver	Liver
39	chr13:50819200-50819600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr13:50819200-50819600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:50819200-50819600	Enhancers	Fetal Kidney	kidney
42	chr13:50819200-50819600	Active TSS	A549	lung
43	chr13:50819200-50820000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:50819400-50819600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:50819400-50819800	Weak transcription	Esophagus	oesophagus
46	chr13:50819400-50819800	Flanking Active TSS	HepG2	liver
47	chr13:50819400-50822200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:50819400-50822200	Weak transcription	Dnd41	blood
49	chr13:50819400-50822800	Weak transcription	Primary monocytes fromperipheralblood	blood

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