Variant report

Variant	nsv900850
Chromosome Location	chr13:89797903-89853255
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	chr13:89843854..89844646-chr17:66927017..66927781,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-24	chr13:89815360-89815434	NONHSAT034620
2	lnc-SLITRK6-24	chr13:89811759-89811902	NONHSAT034620

Extended variants
information (count: 233 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2253547	chr13:89811760-89811761	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186389	chr13:89811772-89811773	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187053224	chr13:89811817-89811818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs138016542	chr13:89811848-89811849	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs527375145	chr13:89813809-89813810	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs314386	chr13:89813913-89813914	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570545603	chr13:89813918-89813919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs117092295	chr13:89813929-89813930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs314387	chr13:89813937-89813938	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78664868	chr13:89813944-89813945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535789977	chr13:89813964-89813965	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553929307	chr13:89813996-89813997	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566916133	chr13:89814002-89814003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs572101060	chr13:89814018-89814019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539628613	chr13:89814044-89814045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs558747622	chr13:89814047-89814048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149834899	chr13:89814156-89814157	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141003416	chr13:89814165-89814166	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs68014328	chr13:89814167-89814168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548703948	chr13:89814168-89814169	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs398117699	chr13:89814171-89814172	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535932508	chr13:89814217-89814218	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184375588	chr13:89814218-89814219	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532511436	chr13:89814232-89814233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574780840	chr13:89814281-89814282	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141993785	chr13:89814298-89814299	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376403981	chr13:89814299-89814300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377134884	chr13:89814308-89814309	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552697830	chr13:89814318-89814319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181269360	chr13:89814321-89814322	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182605	chr13:89814343-89814344	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370024595	chr13:89814370-89814371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527849171	chr13:89814409-89814410	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146876317	chr13:89814424-89814425	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs140748238	chr13:89814448-89814449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531471998	chr13:89814477-89814478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549793984	chr13:89814627-89814628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9560228	chr13:89814632-89814633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528900407	chr13:89814643-89814644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78735630	chr13:89814689-89814690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185470773	chr13:89814716-89814717	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs463255	chr13:89814724-89814725	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs464656	chr13:89814728-89814729	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190949184	chr13:89814730-89814731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs180766556	chr13:89814745-89814746	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372465878	chr13:89814776-89814777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537985591	chr13:89814803-89814804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs556133809	chr13:89814839-89814840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574443580	chr13:89814856-89814857	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112086365	chr13:89814868-89814869	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Autism	20841430	CNVD
Wilms tumour	21544195	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89813800-89816000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:89815000-89815600	Active TSS	Placenta	Placenta
3	chr13:89815200-89815800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:89822000-89822600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:89822200-89822600	Enhancers	Adipose Nuclei	Adipose
6	chr13:89822200-89822600	Enhancers	Fetal Heart	heart
7	chr13:89850800-89851200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:89850800-89851400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:89850800-89851400	Enhancers	HMEC	breast
10	chr13:89850800-89851400	Enhancers	NHEK	skin
11	chr13:89850800-89852400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:89851200-89852200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:89851400-89851800	Flanking Active TSS	NHEK	skin
14	chr13:89851400-89852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:89851800-89852800	Enhancers	NHEK	skin
16	chr13:89852000-89852200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:89852200-89852800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:89852800-89857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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