Variant report

Variant	esv3311790
Chromosome Location	chr15:55671227-55673140
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: 119 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147533860	chr15:55671229-55671230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190298251	chr15:55671237-55671238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546448991	chr15:55671285-55671286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553406556	chr15:55671290-55671291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573370992	chr15:55671300-55671301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182183411	chr15:55671301-55671302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12901483	chr15:55671326-55671327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146009067	chr15:55671359-55671360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374832122	chr15:55671360-55671361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57640801	chr15:55671391-55671392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547871138	chr15:55671415-55671416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186515981	chr15:55671419-55671420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190856696	chr15:55671420-55671421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544726569	chr15:55671478-55671479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566345562	chr15:55671529-55671530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564456466	chr15:55671550-55671551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535338529	chr15:55671577-55671578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533190702	chr15:55671588-55671589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552411880	chr15:55671596-55671597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565865905	chr15:55671637-55671638	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555615854	chr15:55671706-55671707	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77944244	chr15:55671712-55671713	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs367998424	chr15:55671715-55671716	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528269189	chr15:55671736-55671737	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183906075	chr15:55671755-55671756	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141139391	chr15:55671769-55671770	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536702216	chr15:55671841-55671842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556659929	chr15:55671850-55671851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375890315	chr15:55671851-55671852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539096496	chr15:55671867-55671868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553607285	chr15:55671872-55671873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547703255	chr15:55671884-55671885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573503923	chr15:55671930-55671931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542432220	chr15:55671954-55671955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570757777	chr15:55671959-55671960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368575152	chr15:55671960-55671961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555955403	chr15:55671983-55671984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112542995	chr15:55671984-55671985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575909860	chr15:55671986-55671987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561777341	chr15:55672008-55672009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544687446	chr15:55672038-55672039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188906585	chr15:55672079-55672080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150728142	chr15:55672083-55672084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112986675	chr15:55672115-55672116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372880435	chr15:55672129-55672130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193062036	chr15:55672131-55672132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139077315	chr15:55672170-55672171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528332456	chr15:55672192-55672193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548085144	chr15:55672200-55672201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567886524	chr15:55672213-55672214	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:157 , 50 per page) page: 1 2 3 4

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	chr15:55637000-55671400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:55637000-55699600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:55637400-55680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:55641000-55671600	Weak transcription	Thymus	Thymus
14	chr15:55645000-55680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:55645600-55681400	Weak transcription	Stomach Mucosa	stomach
16	chr15:55647800-55695400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:55648800-55675800	Weak transcription	Dnd41	blood
18	chr15:55649200-55681000	Weak transcription	HSMM	muscle
19	chr15:55649800-55695800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:55650800-55680800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:55651000-55675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:55652800-55675800	Weak transcription	NHDF-Ad	bronchial
23	chr15:55653000-55675200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:55659600-55672200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:55659600-55682000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:55660200-55672200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:55661200-55672000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:55661200-55680800	Weak transcription	NHLF	lung
29	chr15:55661400-55671400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:55662200-55681600	Weak transcription	Esophagus	oesophagus
31	chr15:55662600-55672200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:55662800-55674000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:55663400-55672000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:55664000-55675400	Weak transcription	Fetal Lung	lung
35	chr15:55664200-55675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:55664200-55681200	Weak transcription	NH-A	brain
37	chr15:55665200-55672200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:55665600-55672200	Strong transcription	Liver	Liver
39	chr15:55665800-55672200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:55665800-55675200	Weak transcription	Fetal Kidney	kidney
41	chr15:55665800-55676800	Weak transcription	HepG2	liver
42	chr15:55665800-55680800	Weak transcription	A549	lung
43	chr15:55666000-55672000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:55666000-55681200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:55666200-55671800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:55666200-55671800	Strong transcription	Left Ventricle	heart
47	chr15:55666200-55673600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:55666200-55675400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr15:55666200-55680600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:55666200-55684000	Weak transcription	HUVEC	blood vessel

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