Variant report

Variant	esv3311633
Chromosome Location	chr15:100264004-100264524
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	chr15:99875624..99878223-chr15:100263924..100266791,2	MCF-7	breast:
2	chr15:100262124..100264300-chr15:100264707..100266536,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259257	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555984875	chr15:100264012-100264013	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377663228	chr15:100264019-100264020	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192441612	chr15:100264082-100264083	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147771777	chr15:100264093-100264094	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556783731	chr15:100264098-100264099	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs578232951	chr15:100264137-100264138	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141078159	chr15:100264138-100264139	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560399470	chr15:100264189-100264190	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572368002	chr15:100264206-100264207	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542661109	chr15:100264207-100264208	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561381427	chr15:100264211-100264212	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183758412	chr15:100264228-100264229	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111456294	chr15:100264282-100264283	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562322145	chr15:100264375-100264376	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532981538	chr15:100264431-100264432	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374105700	chr15:100264432-100264433	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148073575	chr15:100264433-100264434	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141777033	chr15:100264435-100264436	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544155038	chr15:100264469-100264470	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2123927	chr15:100264489-100264490	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567292488	chr15:100264491-100264492	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552229508	chr15:100264492-100264493	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150150228	chr15:100264502-100264503	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2123926	chr15:100264518-100264519	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100244600-100272400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:100249600-100272800	Weak transcription	Small Intestine	intestine
3	chr15:100249800-100272200	Weak transcription	HUVEC	blood vessel
4	chr15:100251800-100271800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:100252200-100271400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:100253000-100265000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:100253000-100271800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:100253200-100268400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:100253600-100267600	Weak transcription	Fetal Brain Female	brain
10	chr15:100253600-100268000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:100253600-100268000	Weak transcription	Brain Germinal Matrix	brain
12	chr15:100253600-100268200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr15:100253600-100272400	Weak transcription	Stomach Mucosa	stomach
14	chr15:100255400-100269000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:100255800-100268400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:100256000-100265000	Weak transcription	Hela-S3	cervix
17	chr15:100256800-100265200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:100257000-100268200	Weak transcription	Gastric	stomach
19	chr15:100257200-100265000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:100257200-100267800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:100257200-100268400	Weak transcription	Liver	Liver
22	chr15:100257400-100265000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:100257600-100270400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:100257800-100267200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:100257800-100267600	Weak transcription	NHLF	lung
26	chr15:100258000-100265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:100258000-100265000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:100258000-100265200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:100258000-100267800	Weak transcription	Ovary	ovary
30	chr15:100258000-100268000	Weak transcription	Brain Anterior Caudate	brain
31	chr15:100258000-100268200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:100258000-100268600	Weak transcription	Colonic Mucosa	Colon
33	chr15:100258000-100268600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:100258000-100272000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr15:100258400-100268200	Weak transcription	Brain Angular Gyrus	brain
36	chr15:100258600-100265000	Weak transcription	Fetal Intestine Large	intestine
37	chr15:100258600-100268400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:100259000-100265800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:100259000-100268000	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:100259000-100268000	Weak transcription	Brain Substantia Nigra	brain
41	chr15:100259000-100268200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:100259200-100270200	Weak transcription	Fetal Kidney	kidney
43	chr15:100259400-100268400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:100259800-100268000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:100259800-100268800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:100259800-100272200	Weak transcription	Osteobl	bone
47	chr15:100260000-100265000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:100260000-100268200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:100260000-100270000	Weak transcription	NHDF-Ad	bronchial
50	chr15:100261000-100268200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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