Variant report

Variant	rs1693491
Chromosome Location	chr15:52772937-52772938
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	chr15:52754471..52760057-chr15:52770956..52773396,5	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10851519	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs12442200	0.83[AMR][1000 genomes]
rs1612233	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1669867	0.81[YRI][hapmap]
rs1693488	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693490	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1693498	1.00[AMR][1000 genomes]
rs1693503	1.00[AMR][1000 genomes]
rs1693504	0.85[AMR][1000 genomes]
rs1724582	1.00[AMR][1000 genomes]
rs1724619	0.85[AMR][1000 genomes]
rs1724620	0.80[YRI][hapmap];0.85[AMR][1000 genomes]
rs1724632	0.87[AFR][1000 genomes]
rs2414157	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453987	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs2462845	0.92[YRI][hapmap];0.85[AMR][1000 genomes]
rs2462852	1.00[AMR][1000 genomes]
rs2646030	0.83[AMR][1000 genomes]
rs2693464	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2693471	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950061	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7176554	0.93[AFR][1000 genomes];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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52758600-52773000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:52758800-52773000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:52759200-52778200	Weak transcription	Right Atrium	heart
4	chr15:52759400-52773000	Weak transcription	Brain Angular Gyrus	brain
5	chr15:52759800-52773000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr15:52764200-52773000	Weak transcription	Brain Anterior Caudate	brain
7	chr15:52767600-52773600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:52769800-52774400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:52770000-52776600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr15:52770000-52777000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:52770600-52773000	Weak transcription	NHEK	skin
12	chr15:52770800-52773800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:52770800-52776400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:52771000-52773800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr15:52771000-52777000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr15:52771000-52778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:52771200-52773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:52771400-52776200	Enhancers	Fetal Thymus	thymus
19	chr15:52771400-52776400	Enhancers	Primary hematopoietic stem cells	blood
20	chr15:52771400-52776400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:52771800-52773800	Enhancers	Primary T cells from cord blood	blood
22	chr15:52771800-52773800	Enhancers	Thymus	Thymus
23	chr15:52771800-52774000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:52771800-52775200	Enhancers	Primary B cells from cord blood	blood
25	chr15:52771800-52776200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr15:52772000-52773600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:52772000-52773600	Enhancers	GM12878-XiMat	blood
28	chr15:52772000-52773800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:52772000-52773800	Enhancers	Fetal Muscle Leg	muscle
30	chr15:52772000-52774000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr15:52772000-52774600	Enhancers	Adipose Nuclei	Adipose
32	chr15:52772000-52774600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr15:52772000-52775400	Enhancers	HSMM	muscle
34	chr15:52772000-52775600	Enhancers	Duodenum Mucosa	Duodenum
35	chr15:52772000-52775800	Enhancers	HUVEC	blood vessel
36	chr15:52772000-52776400	Enhancers	Primary B cells from peripheral blood	blood
37	chr15:52772000-52776600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:52772000-52776800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:52772000-52776800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr15:52772000-52777000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr15:52772000-52777000	Enhancers	NHDF-Ad	bronchial
42	chr15:52772200-52774200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:52772200-52775000	Weak transcription	Spleen	Spleen
44	chr15:52772200-52775200	Weak transcription	Left Ventricle	heart
45	chr15:52772200-52776400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr15:52772200-52776600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr15:52772200-52781600	Weak transcription	Colonic Mucosa	Colon
48	chr15:52772400-52773600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:52772400-52774000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:52772400-52775000	Weak transcription	Colon Smooth Muscle	Colon

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