Variant report

Variant	esv3410304
Chromosome Location	chr15:92690259-92690566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92682991..92685535-chr15:92689557..92692167,2	MCF-7	breast:
2	chr15:92690201..92691846-chr15:92709647..92712253,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187980639	chr15:92690264-92690265	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs147148495	chr15:92690285-92690286	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79038643	chr15:92690298-92690299	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540544054	chr15:92690300-92690301	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs5814521	chr15:92690308-92690309	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs78550975	chr15:92690348-92690349	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200853562	chr15:92690365-92690366	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373470993	chr15:92690378-92690379	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141187463	chr15:92690379-92690380	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376203894	chr15:92690384-92690385	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs199931152	chr15:92690393-92690394	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372766661	chr15:92690395-92690396	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79076381	chr15:92690400-92690401	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370549684	chr15:92690410-92690411	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76601963	chr15:92690425-92690426	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs35622218	chr15:92690429-92690430	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371134473	chr15:92690431-92690432	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201798375	chr15:92690434-92690435	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs75076117	chr15:92690439-92690440	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74028829	chr15:92690451-92690452	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189387138	chr15:92690464-92690465	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs78545261	chr15:92690467-92690468	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538290228	chr15:92690476-92690477	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552129225	chr15:92690517-92690518	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs151151120	chr15:92690518-92690519	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs732546	chr15:92690548-92690549	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs374270110	chr15:92690549-92690550	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92645200-92705600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:92648200-92692600	Weak transcription	NHLF	lung
3	chr15:92649200-92710800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:92661000-92703600	Weak transcription	Small Intestine	intestine
5	chr15:92664000-92707000	Weak transcription	Liver	Liver
6	chr15:92664000-92712000	Weak transcription	Psoas Muscle	Psoas
7	chr15:92666000-92704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:92668600-92690800	Weak transcription	Brain Angular Gyrus	brain
9	chr15:92669600-92703000	Weak transcription	Brain Anterior Caudate	brain
10	chr15:92671600-92708000	Weak transcription	Gastric	stomach
11	chr15:92671800-92707800	Weak transcription	Colonic Mucosa	Colon
12	chr15:92671800-92709200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr15:92672000-92704200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:92672200-92695600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:92672200-92703200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:92672600-92691200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:92673400-92692600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:92674800-92707800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:92678600-92692400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:92678600-92701000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:92679200-92698800	Weak transcription	Thymus	Thymus
22	chr15:92684000-92713200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr15:92684200-92701400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:92684400-92713200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr15:92684600-92701000	Weak transcription	NHEK	skin
26	chr15:92684800-92701400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:92685200-92691600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:92685200-92701000	Weak transcription	HMEC	breast
29	chr15:92686000-92692400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:92686000-92703200	Weak transcription	Right Atrium	heart
31	chr15:92686200-92690600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:92686400-92692200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:92686400-92706800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:92686800-92707600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:92687400-92705000	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:92687600-92701000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:92687600-92719400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:92687800-92691200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr15:92687800-92700400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:92688200-92692400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:92688400-92700400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:92689000-92690400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:92689000-92690600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:92689000-92690600	Enhancers	Fetal Brain Male	brain
45	chr15:92689200-92690400	Enhancers	Brain Cingulate Gyrus	brain
46	chr15:92689200-92693400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:92689200-92697600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr15:92689200-92697600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:92689200-92700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:92689400-92690400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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