Variant report

Variant	nsv1048011
Chromosome Location	chr13:87686985-87823029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:87685458..87688112-chr13:87691152..87694423,3	K562	blood:
2	chr13:87776715..87778744-chr13:87780725..87783361,2	MCF-7	breast:
3	chr13:87745697..87747842-chr13:87770397..87772892,2	MCF-7	breast:
4	chr13:87685458..87688112-chr13:87691152..87694423,3	K562	blood:
5	chr13:87745697..87747842-chr13:87770397..87772892,2	MCF-7	breast:
6	chr13:87776715..87778744-chr13:87780725..87783361,2	MCF-7	breast:
7	chr13:87716358..87717154-chr2:64911099..64911870,2	MCF-7	breast:

Extended variants
information (count: 2414 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2414 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549527178	chr13:87687011-87687012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141963291	chr13:87687056-87687057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75953360	chr13:87687104-87687105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150683875	chr13:87687147-87687148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370253479	chr13:87687219-87687220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185723868	chr13:87687287-87687288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539359751	chr13:87687310-87687311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551640541	chr13:87687319-87687320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569923285	chr13:87687322-87687323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569601191	chr13:87687379-87687380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536630358	chr13:87687385-87687386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537244238	chr13:87687415-87687416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140009486	chr13:87687445-87687446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142299945	chr13:87687467-87687468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534387818	chr13:87687468-87687469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553295332	chr13:87687474-87687475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578093550	chr13:87687491-87687492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535404273	chr13:87687492-87687493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545418399	chr13:87687519-87687520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74102210	chr13:87687540-87687541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189699347	chr13:87687588-87687589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575584011	chr13:87687596-87687597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562652685	chr13:87689620-87689621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149184015	chr13:87689626-87689627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143342645	chr13:87689631-87689632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528657262	chr13:87689638-87689639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80257167	chr13:87689792-87689793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183775502	chr13:87689812-87689813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148365951	chr13:87689846-87689847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7336441	chr13:87689856-87689857	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76034135	chr13:87689890-87689891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142244489	chr13:87689902-87689903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146401810	chr13:87689904-87689905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567025869	chr13:87689966-87689967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190540266	chr13:87689967-87689968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552586668	chr13:87689973-87689974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138520811	chr13:87689977-87689978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537163939	chr13:87689983-87689984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556273274	chr13:87690054-87690055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182247822	chr13:87690092-87690093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535508776	chr13:87690110-87690111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111726337	chr13:87690132-87690133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533370443	chr13:87690147-87690148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532186780	chr13:87690158-87690159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551751196	chr13:87690194-87690195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141548517	chr13:87690195-87690196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74102211	chr13:87690239-87690240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576803651	chr13:87690249-87690250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544244129	chr13:87690258-87690259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562443219	chr13:87690315-87690316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87687000-87687600	Enhancers	Fetal Heart	heart
2	chr13:87689600-87690000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:87690000-87702200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:87691200-87691600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:87695000-87695600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:87705800-87706800	Enhancers	Liver	Liver
7	chr13:87706800-87709200	Weak transcription	Liver	Liver
8	chr13:87709200-87709600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr13:87709200-87710200	Enhancers	Liver	Liver
10	chr13:87709800-87711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:87710200-87710600	Flanking Active TSS	Liver	Liver
12	chr13:87710200-87711000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:87710600-87711000	Enhancers	Liver	Liver
14	chr13:87719600-87720000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:87722600-87722800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:87730400-87730600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:87732400-87732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:87732400-87733000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:87732600-87733000	ZNF genes & repeats	Gastric	stomach
20	chr13:87732800-87733000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:87733000-87733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:87733000-87733400	Weak transcription	Gastric	stomach
23	chr13:87740000-87740200	Enhancers	NH-A	brain
24	chr13:87740200-87741200	Weak transcription	NH-A	brain
25	chr13:87741000-87742000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:87741200-87742200	Enhancers	NH-A	brain
27	chr13:87741200-87742600	Enhancers	HMEC	breast
28	chr13:87741600-87742000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr13:87741600-87742200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:87741800-87742000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:87742000-87743800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:87743800-87744200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:87744200-87746000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:87746000-87746200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:87746000-87747200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:87746000-87747400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:87746000-87747800	Enhancers	Fetal Heart	heart
38	chr13:87746200-87746800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:87746800-87747200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr13:87746800-87747400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:87746800-87748400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:87747000-87747200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:87747200-87749400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr13:87755200-87755400	Enhancers	Spleen	Spleen
45	chr13:87757600-87758000	Enhancers	Fetal Heart	heart
46	chr13:87760400-87760800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr13:87760400-87761000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:87762800-87763400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:87770400-87781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:87771400-87772000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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