Variant report

Variant	esv1679912
Chromosome Location	chr15:43394190-43394191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43389228..43394941-chr15:43395904..43400327,7	K562	blood:
2	chr15:43388815..43390634-chr15:43391926..43394516,2	K562	blood:
3	chr15:43392607..43394491-chr15:43442865..43444779,2	K562	blood:
4	chr15:43392059..43394941-chr15:43396768..43399559,3	K562	blood:
5	chr15:43392028..43394734-chr15:43397894..43400122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159459	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55875692	chr15:43394190-43394191	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs398043669	chr15:43394191-43394192	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
3	chr15:43346800-43395400	Weak transcription	Small Intestine	intestine
4	chr15:43348400-43397400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:43353000-43397400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:43367400-43394400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:43373200-43397200	Weak transcription	Fetal Brain Male	brain
8	chr15:43373600-43396600	Weak transcription	Pancreas	Pancrea
9	chr15:43375400-43396600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr15:43375600-43395400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:43376600-43397200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:43376800-43396400	Weak transcription	Fetal Kidney	kidney
13	chr15:43376800-43396600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:43377600-43397200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:43377600-43397200	Weak transcription	Colonic Mucosa	Colon
16	chr15:43378600-43394200	Weak transcription	Hela-S3	cervix
17	chr15:43379000-43396600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:43379200-43395800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:43379400-43394200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:43382200-43396600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:43385800-43397400	Weak transcription	Lung	lung
22	chr15:43386000-43397400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:43386000-43397400	Weak transcription	Aorta	Aorta
24	chr15:43386000-43397400	Weak transcription	Ovary	ovary
25	chr15:43386200-43396200	Weak transcription	GM12878-XiMat	blood
26	chr15:43386400-43396600	Weak transcription	Left Ventricle	heart
27	chr15:43386600-43396600	Weak transcription	Right Ventricle	heart
28	chr15:43388000-43396600	Weak transcription	A549	lung
29	chr15:43388800-43394400	Weak transcription	Fetal Heart	heart
30	chr15:43388800-43397600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:43389200-43396000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:43389200-43396600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:43389600-43395600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr15:43389600-43395800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:43389600-43395800	Weak transcription	NHDF-Ad	bronchial
36	chr15:43390000-43397600	Weak transcription	Spleen	Spleen
37	chr15:43391000-43397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:43391200-43395600	Strong transcription	Fetal Stomach	stomach
39	chr15:43391200-43396600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr15:43391200-43396600	Weak transcription	Brain Substantia Nigra	brain
41	chr15:43391400-43394800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr15:43391600-43394800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:43391600-43395000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:43391800-43394600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr15:43391800-43394600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr15:43391800-43394600	Strong transcription	Placenta	Placenta
47	chr15:43391800-43394600	Strong transcription	Fetal Thymus	thymus
48	chr15:43391800-43394800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:43391800-43394800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:43391800-43395000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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