Variant report

Variant	esv3368569
Chromosome Location	chr13:87223000-87253908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:87248984..87251964-chr17:56706206..56708752,2	K562	blood:
2	chr13:87248984..87250484-chr17:56706669..56710573,3	MCF-7	breast:
3	chr13:87241740..87242445-chr18:33767395..33768288,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-20	chr13:87251292-87251535	NONHSAT034579
2	lnc-SLITRK5-20	chr13:87253266-87253330	NONHSAT034579

Variant related genes	Relation type
ENSG00000260552	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000075643	chromatin interactions

Extended variants
information (count: 757 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578059755	chr13:87223020-87223021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1328850	chr13:87223028-87223029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564307979	chr13:87223132-87223133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114495173	chr13:87223173-87223174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550138360	chr13:87223259-87223260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79740665	chr13:87223340-87223341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187221006	chr13:87223345-87223346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78897952	chr13:87223346-87223347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145144699	chr13:87223356-87223357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77610159	chr13:87223364-87223365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533059647	chr13:87223365-87223366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551637783	chr13:87223409-87223410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9560305	chr13:87223412-87223413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537335542	chr13:87223464-87223465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192024724	chr13:87223576-87223577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555674337	chr13:87223594-87223595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183566613	chr13:87223601-87223602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534664900	chr13:87223683-87223684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139021675	chr13:87223769-87223770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74101527	chr13:87223777-87223778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187301863	chr13:87223790-87223791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9555881	chr13:87223797-87223798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190640628	chr13:87223815-87223816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369328551	chr13:87223849-87223850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149020903	chr13:87223850-87223851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182510754	chr13:87223856-87223857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543716247	chr13:87223858-87223859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4773434	chr13:87223893-87223894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143025913	chr13:87223947-87223948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113185796	chr13:87223977-87223978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540989930	chr13:87223978-87223979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559305550	chr13:87224025-87224026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541075906	chr13:87224049-87224050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532884296	chr13:87224093-87224094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551497006	chr13:87224198-87224199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559596430	chr13:87224205-87224206	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570135533	chr13:87224236-87224237	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531039130	chr13:87224267-87224268	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187019642	chr13:87224347-87224348	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567578579	chr13:87224361-87224362	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533110449	chr13:87224396-87224397	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551597118	chr13:87224411-87224412	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192545233	chr13:87224547-87224548	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148204459	chr13:87224552-87224553	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571654553	chr13:87224585-87224586	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9560310	chr13:87224644-87224645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370674167	chr13:87224652-87224653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114524454	chr13:87224718-87224719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575668231	chr13:87224757-87224758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530613156	chr13:87224792-87224793	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87216600-87223400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:87217400-87223000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:87223000-87225400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:87223400-87225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:87223600-87224200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:87223600-87224600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:87223600-87224800	Enhancers	NH-A	brain
8	chr13:87223800-87224800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr13:87224000-87224600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr13:87224000-87224800	Enhancers	HMEC	breast
11	chr13:87224200-87224600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr13:87224200-87224600	Enhancers	Hela-S3	cervix
13	chr13:87224400-87225000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:87231000-87231400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:87231000-87231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:87231800-87233200	Enhancers	Fetal Heart	heart
17	chr13:87233200-87237400	Weak transcription	Fetal Heart	heart
18	chr13:87234000-87235000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:87235000-87237000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:87237000-87237800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:87237000-87239200	Enhancers	Fetal Stomach	stomach
22	chr13:87237200-87239000	Enhancers	Colon Smooth Muscle	Colon
23	chr13:87237400-87238200	Enhancers	Rectal Smooth Muscle	rectum
24	chr13:87237400-87239200	Enhancers	Fetal Heart	heart
25	chr13:87237600-87237800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:87237600-87238800	Enhancers	Fetal Lung	lung
27	chr13:87237600-87239200	Enhancers	Adipose Nuclei	Adipose
28	chr13:87237600-87239200	Enhancers	Fetal Muscle Leg	muscle
29	chr13:87237800-87238200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:87237800-87238800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:87238000-87238400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:87238200-87239400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:87238600-87239000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:87238600-87239200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr13:87238600-87239200	Enhancers	Fetal Muscle Trunk	muscle
36	chr13:87238800-87239200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:87239200-87244000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:87244000-87245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:87245000-87245600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:87245000-87245600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:87245200-87245600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:87253600-87253800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:87253600-87254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:87253600-87254400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:87253600-87254400	Enhancers	NH-A	brain
46	chr13:87253600-87254600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:87253800-87254000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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