Variant report

Variant	rs1724619
Chromosome Location	chr15:52810838-52810839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52799417..52803271-chr15:52809477..52812870,3	MCF-7	breast:
2	chr15:52807587..52810925-chr15:52812381..52815095,4	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10851519	0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12442200	0.82[AFR][1000 genomes]
rs1612233	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1693488	0.85[AMR][1000 genomes]
rs1693490	0.81[YRI][hapmap];0.85[AMR][1000 genomes]
rs1693491	0.85[AMR][1000 genomes]
rs1693498	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1693503	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1693504	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693509	0.96[YRI][hapmap]
rs1724582	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1724607	0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1724620	0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2414157	0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs2453987	0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2462845	0.80[YRI][hapmap]
rs2462852	0.85[AMR][1000 genomes]
rs2646030	0.82[AFR][1000 genomes]
rs2693464	0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2693471	0.81[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52778600-52812400	Weak transcription	Right Ventricle	heart
2	chr15:52786400-52812400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:52792000-52815200	Weak transcription	NHLF	lung
4	chr15:52796800-52811200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:52796800-52819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:52796800-52820000	Weak transcription	Primary T cells from cord blood	blood
7	chr15:52797000-52815200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:52797600-52819800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr15:52803400-52812400	Weak transcription	Left Ventricle	heart
10	chr15:52803400-52812400	Weak transcription	Spleen	Spleen
11	chr15:52803800-52812200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:52803800-52812600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:52803800-52814800	Weak transcription	NHDF-Ad	bronchial
14	chr15:52804000-52812400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:52804000-52812600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:52804000-52814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:52805200-52812400	Weak transcription	Brain Anterior Caudate	brain
18	chr15:52806800-52812400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:52807000-52812200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:52807000-52814200	Weak transcription	Brain Substantia Nigra	brain
21	chr15:52807400-52814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:52807400-52820200	Weak transcription	Lung	lung
23	chr15:52807800-52816800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr15:52807800-52819800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:52808000-52812000	Weak transcription	Right Atrium	heart
26	chr15:52808000-52815200	Weak transcription	HUVEC	blood vessel
27	chr15:52808800-52812000	Weak transcription	Psoas Muscle	Psoas
28	chr15:52809000-52812200	Weak transcription	Brain Angular Gyrus	brain
29	chr15:52809000-52812200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:52809000-52814600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:52809000-52815400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:52809600-52812600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:52809600-52814800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:52809600-52814800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:52809600-52815200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:52809800-52811000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:52809800-52811400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:52810000-52811400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:52810000-52814800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr15:52810200-52811200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:52810200-52811400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:52810200-52811600	Enhancers	Primary B cells from cord blood	blood
43	chr15:52810200-52811600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr15:52810200-52811800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr15:52810400-52811400	Enhancers	Primary hematopoietic stem cells	blood
46	chr15:52810400-52811400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr15:52810400-52811600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:52810400-52811800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:52810600-52811400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr15:52810600-52811400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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