Variant report

Variant	esv3393044
Chromosome Location	chr13:111061307-111061476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140060924	chr13:111061311-111061312	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs59406156	chr13:111061313-111061314	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs7322024	chr13:111061320-111061321	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs68187540	chr13:111061323-111061324	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114193701	chr13:111061327-111061328	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs202122946	chr13:111061328-111061329	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs137877641	chr13:111061333-111061334	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs72497979	chr13:111061334-111061335	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs199880318	chr13:111061336-111061337	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs371964491	chr13:111061340-111061341	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111205954	chr13:111061341-111061342	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372790473	chr13:111061348-111061349	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs72271304	chr13:111061349-111061350	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149048301	chr13:111061353-111061354	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12862746	chr13:111061354-111061355	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12862408	chr13:111061355-111061356	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs369392892	chr13:111061358-111061359	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142683455	chr13:111061368-111061369	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375072558	chr13:111061373-111061374	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540826080	chr13:111061382-111061383	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs559154566	chr13:111061406-111061407	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs201303413	chr13:111061408-111061409	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs117315599	chr13:111061417-111061418	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs555927089	chr13:111061449-111061450	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs71127937	chr13:111061450-111061451	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs200553366	chr13:111061459-111061460	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs7325356	chr13:111061460-111061461	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs113822124	chr13:111061466-111061467	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs201227123	chr13:111061467-111061468	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs55685038	chr13:111061468-111061469	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs200403464	chr13:111061471-111061472	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
3	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
5	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:111056200-111066000	Enhancers	Lung	lung
7	chr13:111057400-111061600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:111057800-111064800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:111057800-111070400	Enhancers	Right Atrium	heart
10	chr13:111058000-111066000	Enhancers	HUVEC	blood vessel
11	chr13:111058200-111062200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:111058400-111062400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:111058400-111062800	Strong transcription	Fetal Intestine Small	intestine
14	chr13:111058600-111061600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr13:111058600-111062000	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr13:111058800-111063600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:111058800-111063800	Weak transcription	Small Intestine	intestine
18	chr13:111058800-111064200	Weak transcription	Fetal Intestine Large	intestine
19	chr13:111059000-111063200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:111059200-111063600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:111059400-111062600	Genic enhancers	Fetal Muscle Leg	muscle
22	chr13:111059400-111063800	Genic enhancers	Fetal Stomach	stomach
23	chr13:111059400-111065200	Enhancers	Spleen	Spleen
24	chr13:111059400-111067000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:111059600-111061400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:111059600-111061600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:111059600-111062000	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr13:111059600-111064200	Genic enhancers	Osteobl	bone
29	chr13:111059600-111064400	Enhancers	Aorta	Aorta
30	chr13:111059800-111061400	Weak transcription	Pancreas	Pancrea
31	chr13:111059800-111064800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:111059800-111065200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:111060200-111061400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:111060200-111061400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr13:111060200-111062400	Weak transcription	Ovary	ovary
36	chr13:111060200-111062600	Weak transcription	Gastric	stomach
37	chr13:111060200-111063400	Weak transcription	Brain Substantia Nigra	brain
38	chr13:111060200-111063600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:111060200-111064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:111060200-111064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:111060200-111064200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:111060200-111064400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr13:111060200-111064400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr13:111060200-111065200	Enhancers	HMEC	breast
45	chr13:111060200-111065600	Weak transcription	Esophagus	oesophagus
46	chr13:111060200-111067000	Enhancers	Right Ventricle	heart
47	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr13:111060400-111061400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:111060400-111061400	Weak transcription	HSMMtube	muscle
50	chr13:111060400-111061600	Genic enhancers	Stomach Smooth Muscle	stomach

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