Variant report

Variant	nsv521901
Chromosome Location	chr13:110895995-110897444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 93 )

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	rs7999790	chr13:110895995-110895996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193178771	chr13:110896019-110896020	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557757573	chr13:110896048-110896049	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185095494	chr13:110896068-110896069	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188400807	chr13:110896072-110896073	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545868440	chr13:110896077-110896078	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554041561	chr13:110896086-110896087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573805288	chr13:110896111-110896112	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368135040	chr13:110896193-110896194	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542863844	chr13:110896195-110896196	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114373228	chr13:110896217-110896218	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576235238	chr13:110896254-110896255	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545124572	chr13:110896276-110896277	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11843610	chr13:110896282-110896283	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140372982	chr13:110896286-110896287	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11842085	chr13:110896290-110896291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560863414	chr13:110896375-110896376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs68079483	chr13:110896380-110896381	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144427746	chr13:110896430-110896431	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79494876	chr13:110896512-110896513	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192681054	chr13:110896546-110896547	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183797413	chr13:110896559-110896560	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571607192	chr13:110896560-110896561	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376735249	chr13:110896576-110896577	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534198525	chr13:110896593-110896594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370088392	chr13:110896729-110896730	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7318128	chr13:110896739-110896740	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs567587121	chr13:110896835-110896836	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536531049	chr13:110896847-110896848	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372986236	chr13:110896869-110896870	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536412570	chr13:110896928-110896929	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7319995	chr13:110896944-110896945	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545183768	chr13:110896954-110896955	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558623197	chr13:110896973-110896974	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7318692	chr13:110896986-110896987	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145545057	chr13:110896994-110896995	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529569440	chr13:110897021-110897022	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369300498	chr13:110897025-110897026	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567661813	chr13:110897060-110897061	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542909578	chr13:110897068-110897069	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562781859	chr13:110897085-110897086	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531794738	chr13:110897125-110897126	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373884911	chr13:110897130-110897131	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148903878	chr13:110897152-110897153	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571733693	chr13:110897164-110897165	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188175223	chr13:110897169-110897170	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547799822	chr13:110897222-110897223	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113228410	chr13:110897233-110897234	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532567356	chr13:110897235-110897236	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552346908	chr13:110897250-110897251	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110869000-110898800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr13:110881400-110899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:110881600-110900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:110882400-110900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:110882600-110898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:110882600-110899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:110882800-110900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:110884200-110902200	Weak transcription	HMEC	breast
10	chr13:110884600-110902400	Weak transcription	NHEK	skin
11	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:110885200-110899000	Weak transcription	Fetal Intestine Large	intestine
13	chr13:110886600-110896000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:110888400-110896800	Strong transcription	Osteobl	bone
15	chr13:110889600-110900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:110889600-110900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:110889600-110904200	Enhancers	NHDF-Ad	bronchial
18	chr13:110889800-110896800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:110890000-110897000	Strong transcription	NH-A	brain
20	chr13:110890200-110899400	Enhancers	Left Ventricle	heart
21	chr13:110890800-110901800	Enhancers	Fetal Heart	heart
22	chr13:110891000-110896800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr13:110891000-110896800	Weak transcription	Small Intestine	intestine
24	chr13:110891400-110896000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:110891400-110896800	Weak transcription	Liver	Liver
26	chr13:110891400-110908600	Weak transcription	Psoas Muscle	Psoas
27	chr13:110891600-110896400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:110891600-110896800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:110891800-110896000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:110891800-110896800	Weak transcription	Fetal Intestine Small	intestine
31	chr13:110892200-110898400	Weak transcription	Fetal Lung	lung
32	chr13:110892200-110899000	Weak transcription	Fetal Kidney	kidney
33	chr13:110892600-110896400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:110892600-110897800	Genic enhancers	Fetal Muscle Leg	muscle
35	chr13:110892800-110896000	Weak transcription	NHLF	lung
36	chr13:110892800-110896800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:110892800-110896800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:110893000-110896800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:110893000-110897400	Weak transcription	Spleen	Spleen
40	chr13:110893000-110898600	Weak transcription	Gastric	stomach
41	chr13:110893200-110896800	Weak transcription	Lung	lung
42	chr13:110893200-110897400	Weak transcription	Ovary	ovary
43	chr13:110893200-110899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:110893400-110897800	Strong transcription	HUVEC	blood vessel
45	chr13:110894000-110899000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:110894200-110896400	Strong transcription	HSMM	muscle
47	chr13:110894400-110896800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:110894400-110896800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:110894400-110896800	Weak transcription	Pancreas	Pancrea
50	chr13:110894400-110896800	Weak transcription	Right Ventricle	heart

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