Variant report

Variant	esv2763024
Chromosome Location	chr13:54786785-54822165
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:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:54766693..54769398-chr13:54785918..54788383,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-4	chr13:54813174-54813188	NONHSAT034030
2	lnc-OLFM4-4	chr13:54817929-54818572	NONHSAT034030
3	lnc-OLFM4-4	chr13:54817928-54819360	NONHSAT034031
4	lnc-OLFM4-4	chr13:54812998-54813118	NONHSAT034030
5	lnc-OLFM4-4	chr13:54813124-54813153	NONHSAT034030

No data

Extended variants
information (count: 1010 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537496012	chr13:54786802-54786803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190344642	chr13:54786819-54786820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56820989	chr13:54786913-54786914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371007636	chr13:54786920-54786921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540803088	chr13:54786927-54786928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534516351	chr13:54786929-54786930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116852685	chr13:54786950-54786951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557420356	chr13:54786978-54786979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536894765	chr13:54787034-54787035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56921596	chr13:54787126-54787127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375785851	chr13:54787138-54787139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181257915	chr13:54787144-54787145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577332868	chr13:54787204-54787205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558544620	chr13:54787270-54787271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187127329	chr13:54787304-54787305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115829388	chr13:54787349-54787350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146960402	chr13:54787368-54787369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551419762	chr13:54787385-54787386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560432417	chr13:54787389-54787390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370920127	chr13:54787391-54787392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564201030	chr13:54787425-54787426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370776865	chr13:54787542-54787543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191598803	chr13:54787638-54787639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77665228	chr13:54787681-54787682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36120406	chr13:54787688-54787689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531449522	chr13:54787703-54787704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551471234	chr13:54787720-54787721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571341876	chr13:54787788-54787789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573253965	chr13:54787822-54787823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75618396	chr13:54787858-54787859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547065939	chr13:54787968-54787969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567999211	chr13:54787997-54787998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536501385	chr13:54788031-54788032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556727871	chr13:54788036-54788037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570118843	chr13:54788046-54788047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538770681	chr13:54788090-54788091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147587390	chr13:54788204-54788205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572191748	chr13:54788224-54788225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562529103	chr13:54788283-54788284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555664624	chr13:54788292-54788293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140736026	chr13:54788299-54788300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575560018	chr13:54788333-54788334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554620745	chr13:54788335-54788336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183562465	chr13:54788362-54788363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150083030	chr13:54788381-54788382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138361564	chr13:54788386-54788387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531562610	chr13:54788390-54788391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149329739	chr13:54788393-54788394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143578545	chr13:54788429-54788430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188849586	chr13:54788524-54788525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54782600-54786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:54785400-54792000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:54785800-54787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:54787000-54787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:54787600-54787800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:54792000-54793000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr13:54792800-54793400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr13:54793200-54793400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:54793600-54794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:54799400-54802000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:54801000-54801200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:54801000-54801400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:54801000-54801400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:54801000-54801400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:54801000-54801400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:54801000-54801400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:54801000-54801400	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr13:54801000-54801400	Enhancers	Brain Substantia Nigra	brain
19	chr13:54801200-54801400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:54801200-54801400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:54801200-54801400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:54801200-54801400	ZNF genes & repeats	Gastric	stomach
23	chr13:54801200-54806800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:54801400-54808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:54801400-54821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:54801600-54806400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr13:54802800-54803200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:54803200-54815400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:54804000-54804400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr13:54804400-54806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:54806400-54806600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:54806400-54806600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr13:54806600-54807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:54806600-54807200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:54806800-54807000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:54807000-54807400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:54807000-54807600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr13:54807200-54807400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr13:54807200-54821200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:54807400-54807600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:54807600-54815800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr13:54815400-54819800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:54815800-54816000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr13:54815800-54816200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr13:54815800-54816400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr13:54816000-54816200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr13:54816000-54816200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
48	chr13:54816000-54816400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:54816200-54816400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:54816200-54821400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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