Variant report

Variant	esv2422425
Chromosome Location	chr13:70595689-70640062
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	chr13:70627953..70628454-chr2:26525116..26525616,2	Hela-S3	cervix:
2	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:
3	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BORA-23	chr13:70639503-70639559	NONHSAT034249
2	lnc-BORA-23	chr13:70615319-70615369	NONHSAT034249
3	lnc-BORA-23	chr13:70639819-70640550	NONHSAT034249

No data

Extended variants
information (count: 916 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2875585	chr13:70595690-70595691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571142061	chr13:70595691-70595692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540156938	chr13:70595718-70595719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552613838	chr13:70595741-70595742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538244978	chr13:70595744-70595745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140825497	chr13:70595759-70595760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143130560	chr13:70595764-70595765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190416051	chr13:70595772-70595773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369288070	chr13:70595775-70595776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555395293	chr13:70595777-70595778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572230291	chr13:70595787-70595788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145517676	chr13:70595799-70595800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77097083	chr13:70595806-70595807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374307158	chr13:70595822-70595823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182242824	chr13:70595825-70595826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537273766	chr13:70595840-70595841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185244949	chr13:70595849-70595850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1441557	chr13:70595960-70595961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs376620220	chr13:70595961-70595962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573532814	chr13:70595973-70595974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542278102	chr13:70595985-70595986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188843520	chr13:70596008-70596009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1441556	chr13:70596035-70596036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547985873	chr13:70596039-70596040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564719638	chr13:70596059-70596060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1583917	chr13:70596072-70596073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181306502	chr13:70596114-70596115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570256968	chr13:70596125-70596126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535814477	chr13:70596142-70596143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117486559	chr13:70596150-70596151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548982898	chr13:70596171-70596172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565821599	chr13:70596181-70596182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534836899	chr13:70596197-70596198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553654139	chr13:70596201-70596202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2325263	chr13:70596202-70596203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs35694317	chr13:70596204-70596205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148031436	chr13:70596220-70596221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2439605	chr13:70596262-70596263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185433075	chr13:70596289-70596290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573866225	chr13:70596314-70596315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542626930	chr13:70596319-70596320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374173536	chr13:70596326-70596327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2218245	chr13:70596378-70596379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572974380	chr13:70596405-70596406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370054913	chr13:70596412-70596413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs67661890	chr13:70596413-70596414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200509698	chr13:70596422-70596423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370678112	chr13:70596424-70596425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71116978	chr13:70596436-70596437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9564640	chr13:70596437-70596438	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70594400-70596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:70595600-70602800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:70596200-70596400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:70596200-70597800	Enhancers	Fetal Brain Male	brain
5	chr13:70600000-70600400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:70602800-70609400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:70609400-70609600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:70610400-70610800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr13:70616400-70617200	Enhancers	Fetal Intestine Small	intestine
10	chr13:70617000-70617400	Enhancers	Fetal Intestine Large	intestine
11	chr13:70617600-70618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:70618200-70620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:70620800-70621600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:70622800-70623200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr13:70623000-70623600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:70624800-70625400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:70639200-70639600	Enhancers	Fetal Brain Female	brain

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