Variant report

Variant	esv3380054
Chromosome Location	chr13:111393000-111411165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111363451..111365084-chr13:111398821..111400939,2	MCF-7	breast:
2	chr13:111364448..111366925-chr13:111399455..111401535,2	K562	blood:
3	chr13:111385516..111387873-chr13:111397501..111399093,2	K562	blood:
4	chr13:111364881..111368370-chr13:111398853..111401535,4	K562	blood:
5	chr13:111365574..111367776-chr13:111408041..111410290,2	MCF-7	breast:
6	chr1:17231485..17232075-chr13:111393932..111394932,3	Hela-S3	cervix:
7	chr1:17231478..17232185-chr13:111393932..111394932,3	HCT-116	colon:

Variant related genes	Relation type
ENSG00000153487	chromatin interactions
ENSG00000134905	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570019352	chr13:111393444-111393445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34349146	chr13:111393495-111393496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115615689	chr13:111393575-111393576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549038412	chr13:111393578-111393579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112106069	chr13:111393581-111393582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567522919	chr13:111393599-111393600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552903981	chr13:111393652-111393653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566049431	chr13:111393670-111393671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368299136	chr13:111393677-111393678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535020018	chr13:111393706-111393707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534848508	chr13:111393733-111393734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140313155	chr13:111393748-111393749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578207848	chr13:111393802-111393803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539302331	chr13:111393821-111393822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188027330	chr13:111393899-111393900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144030410	chr13:111394010-111394011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543543915	chr13:111394087-111394088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74421513	chr13:111394138-111394139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573767708	chr13:111394149-111394150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541278012	chr13:111394150-111394151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180877211	chr13:111394182-111394183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372330586	chr13:111394283-111394284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559568804	chr13:111394289-111394290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184565470	chr13:111394359-111394360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551619956	chr13:111394365-111394366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112900765	chr13:111394367-111394368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530889409	chr13:111394399-111394400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140838365	chr13:111394411-111394412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371754872	chr13:111394412-111394413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376613034	chr13:111394496-111394497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150133240	chr13:111394505-111394506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs439687	chr13:111394528-111394529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111798569	chr13:111394567-111394568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369321953	chr13:111394569-111394570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111466977	chr13:111394662-111394663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372645789	chr13:111394679-111394680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148892758	chr13:111394820-111394821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538313341	chr13:111394975-111394976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181438122	chr13:111395007-111395008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111997123	chr13:111395040-111395041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369953564	chr13:111395154-111395155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146451498	chr13:111395155-111395156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537081785	chr13:111395165-111395166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555402287	chr13:111395172-111395173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573810750	chr13:111395178-111395179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541114630	chr13:111395180-111395181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559302537	chr13:111395186-111395187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577740198	chr13:111395249-111395250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374375096	chr13:111395274-111395275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186874894	chr13:111395285-111395286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111393400-111394200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:111393600-111393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:111393800-111394200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:111393800-111394200	Enhancers	NHDF-Ad	bronchial
5	chr13:111393800-111395600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:111395600-111396400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:111395600-111396400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:111396400-111398400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:111398400-111398600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:111398400-111399000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:111398600-111399400	Enhancers	Hela-S3	cervix
12	chr13:111398800-111399200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:111399000-111399400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:111399000-111399600	Enhancers	Fetal Lung	lung
15	chr13:111399000-111400200	Enhancers	Fetal Kidney	kidney
16	chr13:111399000-111407400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:111400200-111400600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:111400200-111400800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:111400200-111400800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:111400200-111401000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:111400400-111401000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:111400600-111400800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr13:111400800-111401000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:111400800-111403000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:111400800-111409800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:111401000-111409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:111403000-111403400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr13:111407400-111412600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:111407600-111412600	Enhancers	Hela-S3	cervix
30	chr13:111408000-111410000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:111408200-111409000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:111408200-111409200	Enhancers	HUVEC	blood vessel
33	chr13:111408200-111410000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:111408400-111409800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr13:111408400-111410000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr13:111408400-111410200	Enhancers	NH-A	brain
37	chr13:111408600-111408800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:111408600-111408800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:111408600-111409000	Enhancers	Placenta	Placenta
40	chr13:111408600-111409000	Enhancers	Ovary	ovary
41	chr13:111408600-111409200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr13:111408600-111409200	Enhancers	Osteobl	bone
43	chr13:111408600-111409400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr13:111408600-111410000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr13:111408600-111410200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr13:111408600-111410200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr13:111408800-111409000	Enhancers	NHDF-Ad	bronchial
48	chr13:111408800-111410600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:111408800-111412200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:111409000-111410600	Weak transcription	Ovary	ovary

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