Variant report

Variant	esv3410385
Chromosome Location	chr13:87232000-87254629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

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

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-20	chr13:87254030-87254064	NONHSAT034579
2	lnc-SLITRK5-20	chr13:87251292-87251535	NONHSAT034579
3	lnc-SLITRK5-20	chr13:87253266-87253330	NONHSAT034579

No data

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

Extended variants
information (count: 680 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549179467	chr13:87232084-87232085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557925267	chr13:87232127-87232128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561587321	chr13:87232151-87232152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571499543	chr13:87232188-87232189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139236557	chr13:87232209-87232210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537359290	chr13:87232248-87232249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370289926	chr13:87232261-87232262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142774294	chr13:87232264-87232265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532634535	chr13:87232270-87232271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551121601	chr13:87232311-87232312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569398504	chr13:87232313-87232314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146078235	chr13:87232343-87232344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550685696	chr13:87232393-87232394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190603170	chr13:87232398-87232399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567508403	chr13:87232472-87232473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534657686	chr13:87232473-87232474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35514001	chr13:87232476-87232477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182332946	chr13:87232477-87232478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552924583	chr13:87232483-87232484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373005217	chr13:87232489-87232490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569162421	chr13:87232500-87232501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3904915	chr13:87232529-87232530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577602088	chr13:87232541-87232542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140076257	chr13:87232545-87232546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3904914	chr13:87232689-87232690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556801009	chr13:87232710-87232711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536130899	chr13:87232755-87232756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115751983	chr13:87232771-87232772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575004550	chr13:87232789-87232790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187756626	chr13:87232820-87232821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377570735	chr13:87232830-87232831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76988248	chr13:87232978-87232979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568913748	chr13:87232988-87232989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7988119	chr13:87232998-87232999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572664694	chr13:87233023-87233024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6492432	chr13:87233030-87233031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532519621	chr13:87233045-87233046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572884312	chr13:87233087-87233088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145804924	chr13:87233115-87233116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs8001904	chr13:87233144-87233145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549160113	chr13:87233168-87233169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370746560	chr13:87233219-87233220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7994171	chr13:87233249-87233250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544226432	chr13:87233288-87233289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553021482	chr13:87233375-87233376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571222323	chr13:87233387-87233388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538206005	chr13:87233397-87233398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556542183	chr13:87233405-87233406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562322699	chr13:87233409-87233410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574991867	chr13:87233421-87233422	Weak transcription	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87231800-87233200	Enhancers	Fetal Heart	heart
2	chr13:87233200-87237400	Weak transcription	Fetal Heart	heart
3	chr13:87234000-87235000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:87235000-87237000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:87237000-87237800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:87237000-87239200	Enhancers	Fetal Stomach	stomach
7	chr13:87237200-87239000	Enhancers	Colon Smooth Muscle	Colon
8	chr13:87237400-87238200	Enhancers	Rectal Smooth Muscle	rectum
9	chr13:87237400-87239200	Enhancers	Fetal Heart	heart
10	chr13:87237600-87237800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:87237600-87238800	Enhancers	Fetal Lung	lung
12	chr13:87237600-87239200	Enhancers	Adipose Nuclei	Adipose
13	chr13:87237600-87239200	Enhancers	Fetal Muscle Leg	muscle
14	chr13:87237800-87238200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:87237800-87238800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:87238000-87238400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:87238200-87239400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:87238600-87239000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:87238600-87239200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:87238600-87239200	Enhancers	Fetal Muscle Trunk	muscle
21	chr13:87238800-87239200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:87239200-87244000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:87244000-87245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:87245000-87245600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:87245000-87245600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:87245200-87245600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:87253600-87253800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:87253600-87254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:87253600-87254400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:87253600-87254400	Enhancers	NH-A	brain
31	chr13:87253600-87254600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:87253800-87254000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:87254000-87254200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:87254200-87254600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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