Variant report

Variant	rs1612233
Chromosome Location	chr15:52786319-52786320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52782555..52786559-chr15:52788524..52791233,4	MCF-7	breast:
2	chr15:52785155..52787650-chr15:52822285..52825077,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10851519	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12442200	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1669867	0.84[YRI][hapmap]
rs1693488	1.00[AMR][1000 genomes]
rs1693490	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs1693491	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1693498	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693503	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693504	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1693509	0.81[YRI][hapmap]
rs1724582	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1724607	0.81[YRI][hapmap]
rs1724619	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1724620	0.85[AMR][1000 genomes]
rs2414157	0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453987	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2462845	0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs2462852	1.00[AMR][1000 genomes]
rs2646030	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2693464	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693471	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2950061	0.85[AMR][1000 genomes]
rs7176554	1.00[AMR][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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054899	chr15:52662365-52803756	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52774600-52802600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:52775200-52788400	Weak transcription	Primary B cells from cord blood	blood
3	chr15:52776400-52789000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:52776400-52796200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:52776800-52788800	Weak transcription	Osteobl	bone
6	chr15:52778600-52788600	Weak transcription	Psoas Muscle	Psoas
7	chr15:52778600-52788800	Weak transcription	HSMMtube	muscle
8	chr15:52778600-52812400	Weak transcription	Right Ventricle	heart
9	chr15:52779200-52791600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:52780200-52788400	Weak transcription	Left Ventricle	heart
11	chr15:52780200-52791800	Weak transcription	Brain Angular Gyrus	brain
12	chr15:52781400-52791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:52781600-52788400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:52781800-52795200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr15:52782000-52787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:52782200-52787400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:52782400-52795600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr15:52782600-52788400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr15:52782600-52796200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr15:52783000-52786600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:52783000-52787000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr15:52783000-52788400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:52783400-52786600	Enhancers	NHDF-Ad	bronchial
24	chr15:52783400-52786800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:52784000-52788800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:52784000-52788800	Weak transcription	NHLF	lung
27	chr15:52784400-52796400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:52784600-52788400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:52784600-52789600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:52784600-52792200	Enhancers	HUVEC	blood vessel
31	chr15:52784800-52789000	Weak transcription	Brain Anterior Caudate	brain
32	chr15:52784800-52794800	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:52784800-52798800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:52785000-52786400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:52785000-52791000	Weak transcription	Brain Substantia Nigra	brain
36	chr15:52785000-52801200	Weak transcription	Right Atrium	heart
37	chr15:52785200-52788400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:52785600-52786800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:52785600-52787000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:52785800-52786800	Enhancers	NHEK	skin
41	chr15:52786000-52786400	Enhancers	Brain Hippocampus Middle	brain
42	chr15:52786200-52786400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:52786200-52786400	Enhancers	Adipose Nuclei	Adipose
44	chr15:52786200-52786600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:52786200-52786600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:52786200-52786600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:52786200-52786600	Enhancers	Hela-S3	cervix
48	chr15:52786200-52786600	Enhancers	HMEC	breast
49	chr15:52786200-52786600	Enhancers	HSMM	muscle
50	chr15:52786200-52786800	Enhancers	A549	lung

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