Variant report

Variant	esv3377136
Chromosome Location	chr15:55673249-55673656
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	chr15:55623887..55626442-chr15:55671919..55674129,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185523919	chr15:55673260-55673261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528871977	chr15:55673314-55673315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549044011	chr15:55673361-55673362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528989284	chr15:55673400-55673401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111771707	chr15:55673430-55673431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554150798	chr15:55673451-55673452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550515746	chr15:55673462-55673463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531867035	chr15:55673476-55673477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71105874	chr15:55673483-55673484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556258632	chr15:55673489-55673490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190961171	chr15:55673490-55673491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398027374	chr15:55673493-55673494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571715089	chr15:55673494-55673495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113178792	chr15:55673505-55673506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568537108	chr15:55673516-55673517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553828830	chr15:55673529-55673530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567467733	chr15:55673554-55673555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2414410	chr15:55673555-55673556	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576387945	chr15:55673563-55673564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544149290	chr15:55673585-55673586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540393	chr15:55673590-55673591	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532795899	chr15:55673616-55673617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55611800-55699400	Weak transcription	Colonic Mucosa	Colon
2	chr15:55612600-55675600	Weak transcription	Aorta	Aorta
3	chr15:55612800-55677600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:55630000-55695000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:55630400-55675600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:55630800-55683600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:55631200-55674000	Weak transcription	Placenta	Placenta
8	chr15:55635800-55675200	Weak transcription	Fetal Brain Male	brain
9	chr15:55636600-55678200	Weak transcription	Fetal Thymus	thymus
10	chr15:55637000-55699600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:55637400-55680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:55645000-55680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:55645600-55681400	Weak transcription	Stomach Mucosa	stomach
14	chr15:55647800-55695400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:55648800-55675800	Weak transcription	Dnd41	blood
16	chr15:55649200-55681000	Weak transcription	HSMM	muscle
17	chr15:55649800-55695800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:55650800-55680800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:55651000-55675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:55652800-55675800	Weak transcription	NHDF-Ad	bronchial
21	chr15:55653000-55675200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:55659600-55682000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:55661200-55680800	Weak transcription	NHLF	lung
24	chr15:55662200-55681600	Weak transcription	Esophagus	oesophagus
25	chr15:55662800-55674000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:55664000-55675400	Weak transcription	Fetal Lung	lung
27	chr15:55664200-55675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:55664200-55681200	Weak transcription	NH-A	brain
29	chr15:55665800-55675200	Weak transcription	Fetal Kidney	kidney
30	chr15:55665800-55676800	Weak transcription	HepG2	liver
31	chr15:55665800-55680800	Weak transcription	A549	lung
32	chr15:55666000-55681200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:55666200-55673600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr15:55666200-55675400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr15:55666200-55680600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr15:55666200-55684000	Weak transcription	HUVEC	blood vessel
37	chr15:55666600-55675600	Weak transcription	GM12878-XiMat	blood
38	chr15:55667200-55675400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:55667600-55681800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr15:55667600-55682000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr15:55667600-55687000	Weak transcription	Pancreas	Pancrea
42	chr15:55667800-55674800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:55668200-55675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:55668200-55699800	Weak transcription	Spleen	Spleen
45	chr15:55669200-55675400	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:55669200-55682600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:55669400-55673400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:55669400-55687200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:55669400-55690400	Weak transcription	Fetal Heart	heart
50	chr15:55669800-55675200	Weak transcription	Brain Anterior Caudate	brain

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