Variant report

Variant	esv3437038
Chromosome Location	chr15:58502310-58505158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58504835..58508448-chr15:58511770..58515596,3	K562	blood:
2	chr15:58505038..58505764-chr15:58519727..58520416,2	K562	blood:
3	chr15:58504304..58505276-chr15:58513365..58514203,2	MCF-7	breast:
4	chr15:58358218..58360333-chr15:58503772..58505301,2	K562	blood:
5	chr15:58355281..58357769-chr15:58504795..58507676,2	K562	blood:
6	chr15:58504905..58505726-chr15:58513648..58514433,4	MCF-7	breast:
7	chr15:58504810..58506580-chr15:59063444..59065345,2	K562	blood:

Variant related genes	Relation type
ENSG00000259285	chromatin interactions
ENSG00000128923	chromatin interactions
ENSG00000128918	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540604716	chr15:58502319-58502320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34837249	chr15:58502324-58502325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564963863	chr15:58502359-58502360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560542536	chr15:58502383-58502384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529136845	chr15:58502447-58502448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7180071	chr15:58502472-58502473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146024351	chr15:58502584-58502585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139957342	chr15:58502587-58502588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143607206	chr15:58502614-58502615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560095094	chr15:58502615-58502616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183564605	chr15:58502651-58502652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75722580	chr15:58502660-58502661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188444252	chr15:58502678-58502679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535914288	chr15:58502729-58502730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150814158	chr15:58502756-58502757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576041956	chr15:58502765-58502766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139307717	chr15:58502825-58502826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560975758	chr15:58502859-58502860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193216486	chr15:58502873-58502874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538044994	chr15:58502874-58502875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183908692	chr15:58502908-58502909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578110751	chr15:58502998-58502999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150008547	chr15:58503030-58503031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373947277	chr15:58503038-58503039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531285153	chr15:58503101-58503102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560423955	chr15:58503105-58503106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2414551	chr15:58503128-58503129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549871031	chr15:58503140-58503141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs36018663	chr15:58503162-58503163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368117861	chr15:58503163-58503164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58831646	chr15:58503178-58503179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542687343	chr15:58503192-58503193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562789215	chr15:58503225-58503226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188067297	chr15:58503249-58503250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144547018	chr15:58503281-58503282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200253364	chr15:58503296-58503297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550737764	chr15:58503298-58503299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372342554	chr15:58503299-58503300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58110792	chr15:58503301-58503302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201416187	chr15:58503384-58503385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370681242	chr15:58503425-58503426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145374135	chr15:58503452-58503453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191379327	chr15:58503511-58503512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76818295	chr15:58503523-58503524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532185178	chr15:58503541-58503542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536228450	chr15:58503547-58503548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540605231	chr15:58503588-58503589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549526813	chr15:58503615-58503616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569544551	chr15:58503647-58503648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567269512	chr15:58503652-58503653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58499200-58503200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:58500400-58502400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:58500400-58502800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr15:58500600-58502800	Enhancers	NHEK	skin
5	chr15:58500800-58502400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:58500800-58502400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:58500800-58502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:58500800-58503000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:58501000-58503000	Enhancers	HMEC	breast
10	chr15:58502000-58502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:58502000-58505200	Weak transcription	Right Atrium	heart
12	chr15:58502200-58504800	Weak transcription	NHDF-Ad	bronchial
13	chr15:58502200-58505000	Weak transcription	Osteobl	bone
14	chr15:58502200-58505200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:58502200-58505400	Weak transcription	NHLF	lung
16	chr15:58502400-58504800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:58502400-58505400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:58502400-58505400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:58502600-58505000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:58502800-58505400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:58502800-58516200	Weak transcription	NHEK	skin
22	chr15:58503000-58505000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:58503200-58504600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:58503200-58505000	Weak transcription	Liver	Liver
25	chr15:58504600-58507400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:58504800-58505200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:58504800-58506400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr15:58504800-58507400	Enhancers	NHDF-Ad	bronchial
29	chr15:58505000-58505200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:58505000-58505600	Enhancers	Brain Cingulate Gyrus	brain
31	chr15:58505000-58505600	Enhancers	K562	blood
32	chr15:58505000-58506600	Enhancers	Liver	Liver
33	chr15:58505000-58507000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:58505000-58507200	Enhancers	Osteobl	bone

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