Variant report

Variant	nsv1043206
Chromosome Location	chr13:89296779-89417347
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	chr13:89369839..89371609-chr13:89377639..89379655,2	K562	blood:
2	chr13:89369839..89371609-chr13:89377639..89379655,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-7	chr13:89324069-89324311	NONHSAT034614

Extended variants
information (count: 1311 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1311 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186093333	chr13:89301414-89301415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190417053	chr13:89301436-89301437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561031786	chr13:89301445-89301446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72640048	chr13:89301497-89301498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs66559716	chr13:89301536-89301537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377311732	chr13:89301543-89301544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553367401	chr13:89301586-89301587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566076751	chr13:89301608-89301609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539443599	chr13:89301637-89301638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573526187	chr13:89301641-89301642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1887113	chr13:89301645-89301646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569795386	chr13:89301654-89301655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78031830	chr13:89301660-89301661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77172219	chr13:89301669-89301670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74861088	chr13:89301681-89301682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9521631	chr13:89301717-89301718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577769558	chr13:89301743-89301744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553381624	chr13:89301772-89301773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577613015	chr13:89301797-89301798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544998619	chr13:89301806-89301807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76432515	chr13:89301810-89301811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377020000	chr13:89301823-89301824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538888748	chr13:89301861-89301862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552564003	chr13:89301865-89301866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73580379	chr13:89301869-89301870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561139868	chr13:89301877-89301878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569298861	chr13:89301971-89301972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528235960	chr13:89301975-89301976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139862042	chr13:89301997-89301998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565033385	chr13:89302007-89302008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543566626	chr13:89302012-89302013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533393004	chr13:89302018-89302019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181123135	chr13:89302043-89302044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569685111	chr13:89302054-89302055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537149220	chr13:89302058-89302059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185331142	chr13:89302060-89302061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563622754	chr13:89302074-89302075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114758787	chr13:89302079-89302080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563440437	chr13:89302085-89302086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143826085	chr13:89302086-89302087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571830574	chr13:89302097-89302098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7337522	chr13:89302145-89302146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146876451	chr13:89302149-89302150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140697632	chr13:89302188-89302189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542753614	chr13:89302197-89302198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145898677	chr13:89302201-89302202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542634598	chr13:89302225-89302226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562036298	chr13:89302239-89302240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145446811	chr13:89302358-89302359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540033183	chr13:89302362-89302363	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	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
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89301400-89301600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:89301600-89302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:89302200-89302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:89307800-89308000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:89308800-89309000	Enhancers	Hela-S3	cervix
6	chr13:89309000-89309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:89309000-89309400	Flanking Active TSS	Hela-S3	cervix
8	chr13:89309400-89309600	Enhancers	Hela-S3	cervix
9	chr13:89344400-89344600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:89344600-89345800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:89345800-89346400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:89346200-89346600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:89346400-89351200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:89351200-89351400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:89351400-89357000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:89353400-89353800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:89353800-89354200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:89353800-89354200	Enhancers	Hela-S3	cervix
19	chr13:89354200-89354400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:89354200-89355600	Weak transcription	Hela-S3	cervix
21	chr13:89354400-89356200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:89355600-89355800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr13:89355600-89356200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:89355600-89356200	Enhancers	Hela-S3	cervix
25	chr13:89355600-89357000	Enhancers	Primary hematopoietic stem cells	blood
26	chr13:89355800-89356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:89356200-89356400	Enhancers	Stomach Mucosa	stomach
28	chr13:89356200-89357000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:89356200-89357200	Active TSS	Hela-S3	cervix
30	chr13:89356200-89357400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:89356200-89357400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:89356400-89356600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr13:89356400-89356600	Enhancers	Fetal Intestine Small	intestine
34	chr13:89356400-89356600	Enhancers	NHEK	skin
35	chr13:89356400-89356800	Flanking Active TSS	Stomach Mucosa	stomach
36	chr13:89356400-89357000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:89356400-89357200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:89356400-89357200	Active TSS	Duodenum Mucosa	Duodenum
39	chr13:89356400-89357200	Active TSS	Right Atrium	heart
40	chr13:89356400-89357200	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr13:89356400-89357400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr13:89356400-89357400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:89356400-89357400	Active TSS	Adipose Nuclei	Adipose
44	chr13:89356400-89357400	Active TSS	Fetal Lung	lung
45	chr13:89356400-89357400	Active TSS	Fetal Stomach	stomach
46	chr13:89356600-89356800	Enhancers	Fetal Heart	heart
47	chr13:89356600-89357000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr13:89356600-89357000	Active TSS	Fetal Intestine Small	intestine
49	chr13:89356600-89357000	Active TSS	Placenta	Placenta
50	chr13:89356600-89357000	Active TSS	Rectal Mucosa Donor 29	rectum

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