Variant report

Variant	esv14637
Chromosome Location	chr13:110664264-110665673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110658379..110661796-chr13:110663475..110666715,3	MCF-7	breast:
2	chr13:110651700..110653449-chr13:110664832..110667633,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140070023	chr13:110664266-110664267	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548170497	chr13:110664288-110664289	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568274097	chr13:110664312-110664313	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537211749	chr13:110664346-110664347	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73618805	chr13:110664426-110664427	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570603621	chr13:110664464-110664465	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs61963003	chr13:110664477-110664478	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552963189	chr13:110664524-110664525	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572735141	chr13:110664550-110664551	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535014865	chr13:110664604-110664605	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112602287	chr13:110664669-110664670	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574695186	chr13:110664677-110664678	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12429959	chr13:110664741-110664742	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs995292	chr13:110664771-110664772	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547613709	chr13:110664788-110664789	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7996452	chr13:110664826-110664827	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7996135	chr13:110664849-110664850	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565788497	chr13:110664851-110664852	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559730736	chr13:110664859-110664860	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535838471	chr13:110664860-110664861	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116783834	chr13:110664872-110664873	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548483467	chr13:110664896-110664897	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7996685	chr13:110664929-110664930	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs200901497	chr13:110664938-110664939	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530819198	chr13:110664956-110664957	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113798875	chr13:110664957-110664958	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558137838	chr13:110664977-110664978	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7997724	chr13:110664985-110664986	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552760049	chr13:110664990-110664991	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566485512	chr13:110665020-110665021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs7997910	chr13:110665075-110665076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554852479	chr13:110665122-110665123	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574833678	chr13:110665141-110665142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537344117	chr13:110665165-110665166	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150332526	chr13:110665175-110665176	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs7996778	chr13:110665177-110665178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546291733	chr13:110665186-110665187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559558503	chr13:110665189-110665190	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573191018	chr13:110665232-110665233	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542287003	chr13:110665233-110665234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79021062	chr13:110665242-110665243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75845125	chr13:110665244-110665245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs3918848	chr13:110665253-110665254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs544649347	chr13:110665270-110665271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181536460	chr13:110665337-110665338	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553160485	chr13:110665397-110665398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs8001815	chr13:110665421-110665422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532956576	chr13:110665428-110665429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546678079	chr13:110665433-110665434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs137977251	chr13:110665434-110665435	Weak transcription Enhancers Flanking Active TSS	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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110659200-110669800	Weak transcription	Pancreas	Pancrea
2	chr13:110661000-110666800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:110661200-110669400	Enhancers	HSMM	muscle
4	chr13:110661600-110664600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:110662200-110666000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:110662600-110666400	Enhancers	HMEC	breast
7	chr13:110662600-110668600	Enhancers	HSMMtube	muscle
8	chr13:110662800-110664800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:110662800-110666200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:110662800-110671000	Enhancers	NHEK	skin
11	chr13:110663000-110665800	Enhancers	NHLF	lung
12	chr13:110663000-110666200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:110663200-110667000	Weak transcription	Left Ventricle	heart
14	chr13:110663400-110664400	Weak transcription	Right Atrium	heart
15	chr13:110663400-110664600	Flanking Active TSS	A549	lung
16	chr13:110663400-110665600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:110663400-110665600	Enhancers	NHDF-Ad	bronchial
18	chr13:110663400-110666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:110663400-110666800	Weak transcription	Fetal Heart	heart
20	chr13:110663400-110667000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:110663400-110670600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr13:110664000-110664800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:110664000-110665000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:110664000-110665400	Enhancers	HUVEC	blood vessel
25	chr13:110664000-110665600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr13:110664000-110665800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:110664000-110665800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:110664000-110665800	Enhancers	Hela-S3	cervix
29	chr13:110664000-110666400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:110664200-110664400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:110664200-110664600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr13:110664200-110664600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:110664200-110664600	Flanking Active TSS	NH-A	brain
34	chr13:110664200-110664600	Flanking Active TSS	Osteobl	bone
35	chr13:110664200-110665800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:110664400-110664600	Enhancers	Right Atrium	heart
37	chr13:110664400-110664800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:110664400-110664800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:110664400-110664800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr13:110664600-110665000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr13:110664600-110665000	Active TSS	A549	lung
42	chr13:110664600-110665400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:110664600-110665800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:110664600-110665800	Enhancers	NH-A	brain
45	chr13:110664600-110666000	Enhancers	Osteobl	bone
46	chr13:110664800-110665600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr13:110664800-110668600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:110665000-110665200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr13:110665000-110665600	Flanking Active TSS	A549	lung
50	chr13:110665000-110665800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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