Variant report

Variant	esv3405065
Chromosome Location	chr15:59214360-59215508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59203507..59205311-chr15:59211852..59214768,2	MCF-7	breast:
2	chr15:59212424..59217333-chr15:59223129..59226870,5	MCF-7	breast:
3	chr15:59205247..59208199-chr15:59214036..59216910,3	K562	blood:

Variant related genes	Relation type
ENSG00000137776	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537495330	chr15:59214433-59214434	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117777765	chr15:59214448-59214449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375262535	chr15:59214576-59214577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs59996812	chr15:59214598-59214599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76110370	chr15:59214599-59214600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574223854	chr15:59214665-59214666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184914346	chr15:59214675-59214676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2414614	chr15:59214677-59214678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs578177282	chr15:59214720-59214721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs8030677	chr15:59214721-59214722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148655568	chr15:59214726-59214727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373083101	chr15:59214739-59214740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57350249	chr15:59214740-59214741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377103448	chr15:59214743-59214744	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376331331	chr15:59214745-59214746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs28785559	chr15:59214746-59214747	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs57139132	chr15:59214747-59214748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs60923547	chr15:59214748-59214749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367954360	chr15:59214753-59214754	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370266548	chr15:59214754-59214755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372133595	chr15:59214759-59214760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs202170218	chr15:59214766-59214767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189796354	chr15:59214770-59214771	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181600903	chr15:59214772-59214773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561438380	chr15:59214779-59214780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186111501	chr15:59214785-59214786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs151216767	chr15:59214801-59214802	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113247610	chr15:59214806-59214807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552825502	chr15:59214810-59214811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370927963	chr15:59214859-59214860	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547254455	chr15:59214872-59214873	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559514082	chr15:59214873-59214874	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533048708	chr15:59214889-59214890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551656416	chr15:59214937-59214938	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200423653	chr15:59214956-59214957	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534991436	chr15:59214963-59214964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144199143	chr15:59214966-59214967	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190829744	chr15:59214985-59214986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146535809	chr15:59214987-59214988	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567738472	chr15:59215010-59215011	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535151416	chr15:59215011-59215012	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553258655	chr15:59215014-59215015	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578142387	chr15:59215015-59215016	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538918682	chr15:59215023-59215024	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557244390	chr15:59215059-59215060	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575574263	chr15:59215075-59215076	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543011646	chr15:59215077-59215078	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561375833	chr15:59215101-59215102	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573640398	chr15:59215127-59215128	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541141710	chr15:59215185-59215186	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	19238632	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	19318576	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59168600-59220000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr15:59169200-59223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:59170800-59224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:59179800-59224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:59180800-59216400	Weak transcription	Stomach Mucosa	stomach
6	chr15:59182200-59224200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:59192200-59223400	Weak transcription	Right Ventricle	heart
8	chr15:59192600-59223400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:59192800-59221200	Weak transcription	Small Intestine	intestine
10	chr15:59192800-59223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:59192800-59224200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:59193000-59217000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:59193000-59219000	Weak transcription	Spleen	Spleen
14	chr15:59193000-59223200	Weak transcription	Aorta	Aorta
15	chr15:59193000-59223200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:59193000-59224200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:59193000-59224200	Weak transcription	Colonic Mucosa	Colon
18	chr15:59193000-59224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:59194000-59223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:59194200-59216800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:59195600-59215600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:59197200-59225000	Weak transcription	Gastric	stomach
23	chr15:59199800-59217000	Weak transcription	Psoas Muscle	Psoas
24	chr15:59199800-59224200	Weak transcription	Esophagus	oesophagus
25	chr15:59200600-59224200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:59202000-59219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:59202200-59219000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:59203200-59221000	Weak transcription	Brain Substantia Nigra	brain
29	chr15:59203800-59215600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:59206800-59217600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:59207000-59216200	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:59207000-59216200	Weak transcription	NHLF	lung
33	chr15:59207200-59219200	Weak transcription	Brain Germinal Matrix	brain
34	chr15:59208000-59215000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:59208000-59215400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:59208000-59216200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr15:59208000-59217000	Weak transcription	Fetal Kidney	kidney
38	chr15:59208000-59223200	Weak transcription	Brain Angular Gyrus	brain
39	chr15:59208000-59223200	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:59209000-59215000	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:59209000-59217600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:59209200-59217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:59209400-59215400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:59209400-59216400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:59209400-59219400	Weak transcription	HSMMtube	muscle
46	chr15:59209600-59215200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:59209600-59216200	Weak transcription	NHDF-Ad	bronchial
48	chr15:59209600-59217400	Weak transcription	HSMM	muscle
49	chr15:59209600-59218400	Weak transcription	HMEC	breast
50	chr15:59209600-59218400	Weak transcription	NH-A	brain

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