Variant report

Variant	esv1002236
Chromosome Location	chr15:58853166-58854287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58844000..58845908-chr15:58853129..58855286,2	K562	blood:
2	chr15:58846252..58850551-chr15:58852253..58854849,4	MCF-7	breast:
3	chr15:58848705..58850783-chr15:58854087..58856299,2	MCF-7	breast:
4	chr15:58852972..58855278-chr15:58856780..58858614,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 62 )

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	rs192572649	chr15:58853173-58853174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149516363	chr15:58853178-58853179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368899725	chr15:58853183-58853184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574458779	chr15:58853197-58853198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77010273	chr15:58853211-58853212	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs71964604	chr15:58853213-58853214	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368337583	chr15:58853214-58853215	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75766242	chr15:58853216-58853217	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs367908431	chr15:58853217-58853218	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs55913623	chr15:58853218-58853219	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575790949	chr15:58853261-58853262	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544644464	chr15:58853268-58853269	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs564318491	chr15:58853279-58853280	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533300601	chr15:58853292-58853293	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546538665	chr15:58853293-58853294	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs150350168	chr15:58853295-58853296	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs533972568	chr15:58853296-58853297	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4774305	chr15:58853307-58853308	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568646677	chr15:58853350-58853351	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1869129	chr15:58853363-58853364	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377596448	chr15:58853364-58853365	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs115408618	chr15:58853365-58853366	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540128567	chr15:58853372-58853373	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138013829	chr15:58853376-58853377	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182614709	chr15:58853424-58853425	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs1869130	chr15:58853425-58853426	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555973573	chr15:58853474-58853475	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575852624	chr15:58853495-58853496	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551976040	chr15:58853513-58853514	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187218880	chr15:58853576-58853577	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs558143459	chr15:58853595-58853596	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577915402	chr15:58853608-58853609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386784448	chr15:58853623-58853624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34964641	chr15:58853631-58853632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201864336	chr15:58853633-58853634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199722357	chr15:58853634-58853635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200523849	chr15:58853636-58853637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397701258	chr15:58853637-58853638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529135898	chr15:58853646-58853647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577866802	chr15:58853675-58853676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149123147	chr15:58853710-58853711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562341085	chr15:58853721-58853722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1869131	chr15:58853724-58853725	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551141248	chr15:58853768-58853769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4775079	chr15:58853784-58853785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527257391	chr15:58853785-58853786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1869132	chr15:58853793-58853794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192144624	chr15:58853819-58853820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148306961	chr15:58853860-58853861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556034928	chr15:58853898-58853899	Enhancers Weak 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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58844600-58860400	Weak transcription	Primary T cells from cord blood	blood
2	chr15:58845400-58857200	Weak transcription	Adipose Nuclei	Adipose
3	chr15:58847200-58860400	Weak transcription	Thymus	Thymus
4	chr15:58847400-58856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:58848200-58857400	Weak transcription	Colonic Mucosa	Colon
6	chr15:58848200-58858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:58849200-58853400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:58851600-58853600	Enhancers	Hela-S3	cervix
9	chr15:58851600-58854000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:58851800-58854400	Weak transcription	Liver	Liver
11	chr15:58852000-58853200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr15:58852200-58853200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:58852400-58860400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:58852800-58853400	Weak transcription	Stomach Mucosa	stomach
15	chr15:58853000-58856600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:58853200-58853600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:58853200-58853800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr15:58853200-58854200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr15:58853200-58854600	Enhancers	HepG2	liver
20	chr15:58853200-58865000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:58853400-58853600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr15:58853400-58853600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:58853400-58853600	Enhancers	Stomach Mucosa	stomach
24	chr15:58853600-58854000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:58853600-58854200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:58853600-58854200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:58853600-58860200	Weak transcription	Stomach Mucosa	stomach
28	chr15:58854000-58854200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:58854000-58854400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:58854200-58854400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:58854200-58854400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr15:58854200-58860400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:58854200-58860400	Weak transcription	Pancreas	Pancrea

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