Variant report

Variant	esv3359353
Chromosome Location	chr15:59073263-59074109
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	chr15:59065749..59068993-chr15:59071498..59074723,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534801523	chr15:59073278-59073279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs625312	chr15:59073279-59073280	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529547243	chr15:59073288-59073289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537109188	chr15:59073321-59073322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549431117	chr15:59073322-59073323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556698111	chr15:59073347-59073348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191135493	chr15:59073399-59073400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543786193	chr15:59073451-59073452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558808445	chr15:59073460-59073461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572343460	chr15:59073488-59073489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541221447	chr15:59073489-59073490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561096318	chr15:59073503-59073504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530144007	chr15:59073529-59073530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111689296	chr15:59073593-59073594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563563925	chr15:59073595-59073596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183636584	chr15:59073606-59073607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113275011	chr15:59073713-59073714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369959705	chr15:59073720-59073721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368141938	chr15:59073752-59073753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17190727	chr15:59073790-59073791	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550672775	chr15:59073817-59073818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528349781	chr15:59073824-59073825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188161557	chr15:59073829-59073830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568212229	chr15:59073871-59073872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192733234	chr15:59073927-59073928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536768590	chr15:59073959-59073960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570605739	chr15:59073984-59073985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570386615	chr15:59073994-59073995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539035846	chr15:59074026-59074027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377408054	chr15:59074032-59074033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185015322	chr15:59074055-59074056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572406282	chr15:59074056-59074057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs484952	chr15:59074057-59074058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
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
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

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:59064600-59102800	Weak transcription	Lung	lung
4	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
5	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
6	chr15:59064600-59145600	Weak transcription	Gastric	stomach
7	chr15:59064800-59095400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:59065600-59082600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:59065800-59077800	Weak transcription	Psoas Muscle	Psoas
11	chr15:59065800-59082600	Weak transcription	Placenta	Placenta
12	chr15:59065800-59094600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:59065800-59095000	Weak transcription	Fetal Thymus	thymus
14	chr15:59065800-59102800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:59065800-59103200	Weak transcription	NH-A	brain
16	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
17	chr15:59066000-59074800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:59066000-59085200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:59066000-59095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:59066000-59102400	Weak transcription	HSMM	muscle
21	chr15:59066200-59081600	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:59066200-59084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:59066200-59095000	Weak transcription	Osteobl	bone
24	chr15:59066200-59095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:59066400-59084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:59066400-59085200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:59066400-59091000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:59066400-59095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:59066400-59095000	Weak transcription	Fetal Intestine Large	intestine
30	chr15:59066600-59078200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:59066600-59102400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:59066800-59077000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:59066800-59078600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:59067000-59082600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:59067000-59083600	Weak transcription	HMEC	breast
36	chr15:59067000-59094600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:59067000-59094800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:59067000-59102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:59067000-59102800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:59067000-59102800	Weak transcription	NHDF-Ad	bronchial
41	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
42	chr15:59067200-59077400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:59067200-59080400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:59067200-59094800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:59067200-59095000	Weak transcription	Fetal Lung	lung
46	chr15:59067200-59103200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:59067400-59076000	Weak transcription	Thymus	Thymus
48	chr15:59067400-59077200	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:59067400-59085400	Weak transcription	NHEK	skin
50	chr15:59067400-59102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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