Variant report

Variant	rs60543967
Chromosome Location	chr15:72395155-72395156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72394985..72397263-chr15:72398518..72401032,2	MCF-7	breast:
2	chr15:72394930..72397507-chr15:72409085..72411660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066933	Chromatin interaction
ENSG00000166192	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10048041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10083583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10518975	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379635	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16956307	1.00[AMR][1000 genomes]
rs16956355	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2415133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28414926	0.84[AFR][1000 genomes]
rs28478122	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56820256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59572935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61109283	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7176558	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432498	1.00[AMR][1000 genomes]
rs73434307	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434311	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434331	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434332	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434358	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73434401	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436314	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436315	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436318	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436365	0.87[AFR][1000 genomes]
rs73436366	0.87[AFR][1000 genomes]
rs73436377	0.87[AFR][1000 genomes]
rs748471	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs748473	1.00[AMR][1000 genomes]
rs8192418	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
6	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
8	esv11550	chr15:72353301-72395288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv869747	chr15:72372245-72403103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
11	nsv510665	chr15:72374862-72407548	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv511557	chr15:72386175-72408069	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv569929	chr15:72386349-72403001	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
5	chr15:72375800-72395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:72377800-72397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:72378800-72395800	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:72379000-72395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:72379200-72395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:72380200-72395600	Weak transcription	Brain Anterior Caudate	brain
14	chr15:72380200-72395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:72380800-72395400	Weak transcription	Psoas Muscle	Psoas
16	chr15:72388200-72395600	Weak transcription	Osteobl	bone
17	chr15:72388400-72396200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr15:72389200-72395600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:72389400-72395800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:72389400-72396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:72389600-72395600	Weak transcription	Fetal Lung	lung
22	chr15:72389600-72395600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:72389600-72403600	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:72389800-72396200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:72390400-72407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:72390800-72395600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:72390800-72395600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:72391000-72395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:72391200-72404200	Weak transcription	HSMMtube	muscle
30	chr15:72391800-72401600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:72391800-72406600	Weak transcription	Ovary	ovary
32	chr15:72392000-72395600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:72392600-72403000	Weak transcription	Fetal Intestine Small	intestine
34	chr15:72392600-72404000	Weak transcription	Fetal Stomach	stomach
35	chr15:72394800-72395200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr15:72395000-72395600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:72395000-72395800	Enhancers	Brain Hippocampus Middle	brain
38	chr15:72395000-72395800	Enhancers	HMEC	breast
39	chr15:72395000-72396000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr15:72395000-72396600	Enhancers	Brain Cingulate Gyrus	brain
41	chr15:72395000-72396800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr15:72395000-72397800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:72395000-72397800	Enhancers	Brain Angular Gyrus	brain
44	chr15:72395000-72397800	Enhancers	Duodenum Smooth Muscle	Duodenum

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