Variant report

Variant	esv3516530
Chromosome Location	chr13:110812371-110812916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11842693	chr13:110812374-110812375	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs655676	chr13:110812384-110812385	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549932895	chr13:110812393-110812394	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187297716	chr13:110812411-110812412	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150485137	chr13:110812472-110812473	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569668188	chr13:110812507-110812508	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191873125	chr13:110812512-110812513	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535487002	chr13:110812518-110812519	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539224238	chr13:110812560-110812561	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552722513	chr13:110812561-110812562	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572868255	chr13:110812564-110812565	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541870206	chr13:110812565-110812566	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555070027	chr13:110812567-110812568	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183960800	chr13:110812579-110812580	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555354554	chr13:110812592-110812593	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563953702	chr13:110812596-110812597	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532781345	chr13:110812603-110812604	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546441681	chr13:110812605-110812606	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559863080	chr13:110812646-110812647	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372539633	chr13:110812649-110812650	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375688513	chr13:110812651-110812652	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568404529	chr13:110812658-110812659	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534520691	chr13:110812662-110812663	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371141440	chr13:110812668-110812669	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550489612	chr13:110812690-110812691	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71127917	chr13:110812711-110812712	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570437606	chr13:110812715-110812716	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539315727	chr13:110812719-110812720	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577048434	chr13:110812723-110812724	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7987440	chr13:110812760-110812761	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567170348	chr13:110812772-110812773	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566615902	chr13:110812782-110812783	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367755097	chr13:110812796-110812797	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71127918	chr13:110812797-110812798	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535242173	chr13:110812820-110812821	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556278907	chr13:110812904-110812905	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555428560	chr13:110812913-110812914	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791200-110825600	Weak transcription	Esophagus	oesophagus
2	chr13:110791400-110812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:110791400-110813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:110791400-110820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:110791400-110825800	Weak transcription	A549	lung
6	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
7	chr13:110795800-110826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:110798400-110825400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:110798800-110825600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:110798800-110853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:110799000-110821200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:110799600-110840200	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:110800000-110824800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:110800000-110825800	Strong transcription	Ovary	ovary
15	chr13:110800200-110837800	Strong transcription	NH-A	brain
16	chr13:110800600-110834200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:110800800-110821800	Strong transcription	Placenta	Placenta
18	chr13:110801000-110818400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:110801000-110822600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:110802400-110822000	Strong transcription	Colon Smooth Muscle	Colon
21	chr13:110802400-110842800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:110803000-110822000	Weak transcription	Small Intestine	intestine
23	chr13:110803000-110834200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:110803000-110840400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:110803200-110815800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:110803200-110826000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:110803200-110839800	Weak transcription	NHDF-Ad	bronchial
28	chr13:110803200-110839800	Strong transcription	Osteobl	bone
29	chr13:110803600-110840000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr13:110804000-110813200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:110804000-110825800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:110804800-110812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr13:110804800-110825200	Weak transcription	Brain Anterior Caudate	brain
34	chr13:110805200-110814400	Weak transcription	Gastric	stomach
35	chr13:110806200-110824000	Weak transcription	Liver	Liver
36	chr13:110806600-110860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr13:110807800-110813200	Weak transcription	Spleen	Spleen
38	chr13:110807800-110814400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:110807800-110814400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:110807800-110826200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr13:110808000-110813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:110808000-110813600	Weak transcription	NHLF	lung
43	chr13:110808000-110824000	Weak transcription	Colonic Mucosa	Colon
44	chr13:110809000-110821400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:110809000-110822000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr13:110809200-110813000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr13:110809200-110821200	Strong transcription	Fetal Lung	lung
48	chr13:110809200-110840000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:110809400-110817000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:110809400-110824800	Weak transcription	Fetal Brain Female	brain

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