Variant report

Variant	nsv983515
Chromosome Location	chr13:51456419-51463427
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:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51462818..51465395-chr13:51482325..51483926,2	K562	blood:
2	chr13:51452163..51454609-chr13:51458977..51461439,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLEU7-1	chr13:51456745-51456781	ENSG00000233672.2
2	lnc-DLEU7-1	chr13:51456647-51456781	ENSG00000233672.2
3	lnc-DLEU7-1	chr13:51456600-51456781	ENSG00000233672.2
4	lnc-DLEU7-1	chr13:51456688-51456781	ENSG00000233672.2
5	lnc-DLEU7-1	chr13:51456515-51456781	NR_046552
6	lnc-DLEU7-1	chr13:51456514-51456781	ENSG00000233672.1
7	lnc-DLEU7-1	chr13:51456534-51456779	ENSG00000233672.2

No data

Variant related genes	Relation type
ENSG00000136104	chromatin interactions

Extended variants
information (count: 237 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:237 , 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	rs145872188	chr13:51456422-51456423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148162651	chr13:51456433-51456434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561690537	chr13:51456434-51456435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576763481	chr13:51456560-51456561	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs567281314	chr13:51456698-51456699	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs376763985	chr13:51456723-51456724	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs188743587	chr13:51456725-51456726	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs559344157	chr13:51456736-51456737	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs562156218	chr13:51456747-51456748	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs200744191	chr13:51456788-51456789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369909810	chr13:51456789-51456790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539628264	chr13:51456791-51456792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562093705	chr13:51456795-51456796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79958244	chr13:51456802-51456803	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74397721	chr13:51456803-51456804	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531130702	chr13:51456820-51456821	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551234619	chr13:51456840-51456841	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564752616	chr13:51456848-51456849	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575588638	chr13:51456869-51456870	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141119349	chr13:51456872-51456873	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552172603	chr13:51456899-51456900	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376267470	chr13:51456954-51456955	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565682833	chr13:51456999-51457000	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528479661	chr13:51457026-51457027	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181504705	chr13:51457074-51457075	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548266968	chr13:51457075-51457076	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568105770	chr13:51457136-51457137	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536834573	chr13:51457137-51457138	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556766075	chr13:51457144-51457145	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369321607	chr13:51457158-51457159	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545343332	chr13:51457162-51457163	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35280371	chr13:51457204-51457205	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576699531	chr13:51457268-51457269	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs35623449	chr13:51457273-51457274	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs561489419	chr13:51457274-51457275	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs539362672	chr13:51457283-51457284	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs556310366	chr13:51457284-51457285	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs527911907	chr13:51457285-51457286	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs79039903	chr13:51457287-51457288	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562200526	chr13:51457309-51457310	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs575680378	chr13:51457326-51457327	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563813487	chr13:51457364-51457365	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs149994862	chr13:51457365-51457366	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547692968	chr13:51457428-51457429	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs11617765	chr13:51457430-51457431	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372945046	chr13:51457452-51457453	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs9591371	chr13:51457455-51457456	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150244122	chr13:51457494-51457495	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs138893062	chr13:51457509-51457510	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528082377	chr13:51457529-51457530	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51455600-51456800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr13:51455600-51456800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr13:51455800-51458000	Weak transcription	Fetal Thymus	thymus
4	chr13:51456800-51457000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr13:51456800-51457200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr13:51456800-51457400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr13:51457000-51457200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:51457000-51457400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr13:51457000-51458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:51457200-51457600	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr13:51457200-51464600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:51457400-51458200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr13:51457400-51459200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:51457600-51458600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:51457600-51459000	Enhancers	Primary hematopoietic stem cells	blood
16	chr13:51457600-51459200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr13:51458000-51458600	Enhancers	Dnd41	blood
18	chr13:51458000-51458800	Enhancers	Fetal Thymus	thymus
19	chr13:51458200-51458600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr13:51458600-51459400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr13:51458600-51461200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr13:51458800-51461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:51458800-51463400	Weak transcription	Fetal Thymus	thymus
24	chr13:51459000-51461000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr13:51459200-51461000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr13:51459200-51461200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr13:51459400-51461200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr13:51461000-51461800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:51461000-51462000	Enhancers	Primary hematopoietic stem cells	blood
30	chr13:51461000-51462000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr13:51461000-51462200	Enhancers	Primary B cells from cord blood	blood
32	chr13:51461000-51462600	Weak transcription	Dnd41	blood
33	chr13:51461200-51461600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr13:51461200-51462000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr13:51461200-51462000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr13:51461200-51462000	Enhancers	Primary B cells from peripheral blood	blood
37	chr13:51461200-51465200	Weak transcription	Aorta	Aorta
38	chr13:51461200-51465400	Enhancers	GM12878-XiMat	blood
39	chr13:51461600-51464200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:51461800-51464400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:51462000-51463400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr13:51462000-51463600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr13:51462000-51464400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr13:51462000-51464600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr13:51462000-51466200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:51462200-51463600	Weak transcription	Primary B cells from cord blood	blood
47	chr13:51462600-51464600	Enhancers	Dnd41	blood
48	chr13:51463400-51463600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr13:51463400-51465600	Enhancers	Thymus	Thymus
50	chr13:51463400-51465800	Enhancers	Fetal Thymus	thymus

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