Variant report

Variant	esv3402001
Chromosome Location	chr13:110967451-110971649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 213 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs182555594	chr13:110967451-110967452	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186903523	chr13:110967455-110967456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs73619299	chr13:110967456-110967457	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11842567	chr13:110967476-110967477	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553785955	chr13:110967501-110967502	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573692192	chr13:110967515-110967516	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140362399	chr13:110967518-110967519	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556046603	chr13:110967545-110967546	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576220379	chr13:110967577-110967578	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531968841	chr13:110967600-110967601	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373125742	chr13:110967601-110967602	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564908517	chr13:110967618-110967619	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553274682	chr13:110967675-110967676	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527414813	chr13:110967749-110967750	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371578511	chr13:110967825-110967826	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541116767	chr13:110967858-110967859	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191140472	chr13:110967909-110967910	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529717479	chr13:110967914-110967915	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs144417427	chr13:110967934-110967935	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7321461	chr13:110967990-110967991	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531886829	chr13:110968004-110968005	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111781410	chr13:110968006-110968007	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571734402	chr13:110968008-110968009	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534072487	chr13:110968017-110968018	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547486917	chr13:110968018-110968019	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61964288	chr13:110968030-110968031	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141487949	chr13:110968043-110968044	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536258907	chr13:110968068-110968069	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556256085	chr13:110968069-110968070	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12428456	chr13:110968070-110968071	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538540275	chr13:110968076-110968077	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558755558	chr13:110968080-110968081	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189223072	chr13:110968103-110968104	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541181988	chr13:110968114-110968115	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142681057	chr13:110968125-110968126	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559003227	chr13:110968141-110968142	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560975256	chr13:110968160-110968161	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78066291	chr13:110968165-110968166	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575600385	chr13:110968226-110968227	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193095917	chr13:110968241-110968242	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563118750	chr13:110968253-110968254	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544699464	chr13:110968299-110968300	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3832899	chr13:110968318-110968319	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398077600	chr13:110968325-110968326	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189938201	chr13:110968326-110968327	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568595399	chr13:110968365-110968366	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551779392	chr13:110968433-110968434	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565524761	chr13:110968440-110968441	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs527886684	chr13:110968504-110968505	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547549488	chr13:110968518-110968519	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110961400-110971400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:110961600-110969200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:110961600-110969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:110961800-110968600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:110961800-110968600	Weak transcription	Gastric	stomach
6	chr13:110962000-110968800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:110962000-110969000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:110962000-110969400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:110962000-110971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:110962000-110971400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:110962000-110972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr13:110962000-110972800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:110962000-110978600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:110962600-110968200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr13:110963000-110967600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:110963600-110972000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:110963800-110968800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:110964000-110969000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:110964000-110969000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:110964000-110969000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:110964200-110969400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr13:110964400-110967600	Genic enhancers	Lung	lung
24	chr13:110964400-110968400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:110964400-110969200	Weak transcription	Fetal Lung	lung
26	chr13:110964400-110969400	Enhancers	Left Ventricle	heart
27	chr13:110964400-110975600	Weak transcription	Colonic Mucosa	Colon
28	chr13:110964600-110968200	Enhancers	Placenta	Placenta
29	chr13:110964600-110968800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:110964600-110971000	Weak transcription	A549	lung
31	chr13:110964600-110972800	Enhancers	Right Atrium	heart
32	chr13:110964800-110968800	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr13:110965200-110968800	Enhancers	Right Ventricle	heart
34	chr13:110965200-110971800	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:110965200-110976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr13:110965400-110968200	Genic enhancers	Osteobl	bone
37	chr13:110965400-110968600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:110965400-110969000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:110965400-110969000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:110965400-110969000	Weak transcription	Fetal Kidney	kidney
41	chr13:110965400-110969400	Weak transcription	Pancreas	Pancrea
42	chr13:110965400-110969800	Strong transcription	Fetal Stomach	stomach
43	chr13:110965400-110972400	Weak transcription	Psoas Muscle	Psoas
44	chr13:110965600-110968000	Strong transcription	Fetal Intestine Small	intestine
45	chr13:110965600-110968400	Genic enhancers	NH-A	brain
46	chr13:110965600-110968600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:110965600-110968600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:110965600-110968800	Weak transcription	HSMM	muscle
49	chr13:110965600-110969000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:110965600-110969200	Genic enhancers	Fetal Muscle Leg	muscle

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