Variant report

Variant	rs2462845
Chromosome Location	chr15:52812962-52812963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52807587..52810925-chr15:52812381..52815095,4	MCF-7	breast:
2	chr15:52812726..52818760-chr15:52818912..52822448,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197535	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10851519	0.86[ASW][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1612233	0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs1669867	0.80[YRI][hapmap]
rs1693488	0.85[AMR][1000 genomes]
rs1693490	1.00[MEX][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes]
rs1693491	0.92[YRI][hapmap];0.85[AMR][1000 genomes]
rs1693498	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1693503	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1693504	0.80[YRI][hapmap]
rs1693509	0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs1724582	0.85[AMR][1000 genomes]
rs1724602	0.81[MKK][hapmap]
rs1724607	0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1724619	0.80[YRI][hapmap]
rs2414157	0.94[YRI][hapmap];0.85[AMR][1000 genomes]
rs2453987	0.93[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2462852	0.85[AMR][1000 genomes]
rs2693464	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2693471	0.92[YRI][hapmap];0.85[AMR][1000 genomes]
rs7176554	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52792000-52815200	Weak transcription	NHLF	lung
2	chr15:52796800-52819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:52796800-52820000	Weak transcription	Primary T cells from cord blood	blood
4	chr15:52797000-52815200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:52797600-52819800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr15:52803800-52814800	Weak transcription	NHDF-Ad	bronchial
7	chr15:52804000-52814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:52807000-52814200	Weak transcription	Brain Substantia Nigra	brain
9	chr15:52807400-52814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:52807400-52820200	Weak transcription	Lung	lung
11	chr15:52807800-52816800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr15:52807800-52819800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:52808000-52815200	Weak transcription	HUVEC	blood vessel
14	chr15:52809000-52814600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:52809000-52815400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:52809600-52814800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:52809600-52814800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:52809600-52815200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:52810000-52814800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr15:52810800-52813800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:52810800-52815000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:52810800-52815200	Weak transcription	A549	lung
23	chr15:52811000-52813600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:52811200-52815000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:52811400-52813400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:52811400-52813600	Weak transcription	NHEK	skin
27	chr15:52811400-52813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:52811400-52814800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:52811400-52814800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:52811400-52816400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr15:52811600-52817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:52811600-52817600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:52811600-52819400	Weak transcription	Primary B cells from cord blood	blood
34	chr15:52812200-52813000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:52812200-52814000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr15:52812400-52813000	Enhancers	Adipose Nuclei	Adipose
37	chr15:52812400-52813000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr15:52812400-52813000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr15:52812400-52813000	Enhancers	Fetal Heart	heart
40	chr15:52812400-52813800	Enhancers	GM12878-XiMat	blood
41	chr15:52812400-52816000	Enhancers	Brain Hippocampus Middle	brain
42	chr15:52812400-52819600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:52812600-52813000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr15:52812600-52813000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:52812600-52813000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:52812600-52813800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr15:52812600-52814000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:52812600-52820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:52812800-52813600	Weak transcription	Brain Angular Gyrus	brain
50	chr15:52812800-52814000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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