Variant report

Variant	esv3424153
Chromosome Location	chr13:54335000-54354115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:53824154..53825004-chr13:54349752..54350528,4	MCF-7	breast:
2	chr13:53824156..53824674-chr13:54349734..54350480,3	MCF-7	breast:
3	chr13:53824138..53824998-chr13:54353117..54353653,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-2	chr13:54348953-54349119	XLOC_010398

Extended variants
information (count: 218 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs140778352	chr13:54335073-54335074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556132074	chr13:54335074-54335075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150112946	chr13:54335076-54335077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554930227	chr13:54335090-54335091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116136843	chr13:54335103-54335104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188449952	chr13:54335120-54335121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573445585	chr13:54335139-54335140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558039016	chr13:54335151-54335152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577728669	chr13:54335153-54335154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9568906	chr13:54335197-54335198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576484367	chr13:54335208-54335209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573762943	chr13:54335234-54335235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4612942	chr13:54335255-54335256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9563174	chr13:54335298-54335299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191141639	chr13:54335315-54335316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545344280	chr13:54335351-54335352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565594359	chr13:54335381-54335382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138410965	chr13:54335498-54335499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111262186	chr13:54335558-54335559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9568907	chr13:54335565-54335566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374313905	chr13:54335604-54335605	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs567564506	chr13:54335644-54335645	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs530133411	chr13:54335653-54335654	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549863908	chr13:54335671-54335672	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs112794266	chr13:54335676-54335677	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183148350	chr13:54335708-54335709	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs149240191	chr13:54335713-54335714	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs531214077	chr13:54335727-54335728	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs557738067	chr13:54335757-54335758	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571496569	chr13:54335767-54335768	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs6561742	chr13:54335769-54335770	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113514760	chr13:54335770-54335771	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553999704	chr13:54335796-54335797	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs573928652	chr13:54335831-54335832	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187450465	chr13:54335860-54335861	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs556239425	chr13:54335886-54335887	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs61954875	chr13:54335900-54335901	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192045330	chr13:54335943-54335944	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564764348	chr13:54335948-54335949	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs7330284	chr13:54335963-54335964	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147437930	chr13:54335974-54335975	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs115920187	chr13:54335989-54335990	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530237826	chr13:54336016-54336017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549970628	chr13:54336038-54336039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184974335	chr13:54336054-54336055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532524827	chr13:54336055-54336056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs367786269	chr13:54336069-54336070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371693948	chr13:54336070-54336071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188626371	chr13:54336071-54336072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs138219617	chr13:54336072-54336073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Gastrointestinal stromal cancer	20877625	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
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54335000-54335800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:54335200-54335600	Enhancers	Spleen	Spleen
3	chr13:54335600-54336000	Active TSS	Spleen	Spleen
4	chr13:54335800-54336400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:54336000-54336200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:54348400-54348600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:54350200-54350400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:54350200-54350400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:54350400-54353000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:54350600-54351600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:54351600-54352600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:54351600-54352800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:54352600-54356000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:54353000-54353200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:54353200-54356800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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