Variant report

Variant	esv1842097
Chromosome Location	chr13:110644990-110680944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:110651856..110654487-chr13:110670006..110672793,2	MCF-7	breast:
2	chr13:110624570..110627835-chr13:110649740..110653862,3	MCF-7	breast:
3	chr13:109571509..109572049-chr13:110652388..110653048,2	MCF-7	breast:
4	chr13:110436934..110441220-chr13:110649910..110655074,7	MCF-7	breast:
5	chr13:110653031..110654741-chr17:73849649..73852204,2	MCF-7	breast:
6	chr13:110652695..110654691-chr13:110658148..110659831,2	MCF-7	breast:
7	chr13:110521072..110521899-chr13:110651072..110651611,2	MCF-7	breast:
8	chr13:110651856..110654487-chr13:110670006..110672793,2	MCF-7	breast:
9	chr13:110651354..110653633-chr13:110756277..110757904,2	MCF-7	breast:
10	chr13:110437517..110439697-chr13:110657006..110658602,2	MCF-7	breast:
11	chr13:110651119..110651723-chr13:110726182..110726944,2	MCF-7	breast:
12	chr13:110651700..110653449-chr13:110664832..110667633,2	K562	blood:
13	chr13:110652695..110654691-chr13:110658148..110659831,2	MCF-7	breast:
14	chr13:109568410..109572256-chr13:110650855..110652564,3	MCF-7	breast:
15	chr13:110658379..110661796-chr13:110663475..110666715,3	MCF-7	breast:
16	chr13:109571462..109572159-chr13:110651100..110651627,2	MCF-7	breast:
17	chr13:110648675..110651623-chr13:110654497..110656407,2	K562	blood:
18	chr13:110654511..110656415-chr13:110759069..110761693,2	MCF-7	breast:
19	chr13:109571509..109572116-chr13:110652388..110652948,2	MCF-7	breast:
20	chr13:110648675..110651623-chr13:110654497..110656407,2	K562	blood:
21	chr13:110658379..110661796-chr13:110663475..110666715,3	MCF-7	breast:
22	chr13:109571429..109572196-chr13:110652328..110653102,2	MCF-7	breast:
23	chr13:110228292..110228912-chr13:110652576..110653193,3	MCF-7	breast:
24	chr13:110651999..110652742-chr13:110760981..110761503,2	MCF-7	breast:
25	chr13:110651700..110653449-chr13:110664832..110667633,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-2	chr13:110675327-110675741	NONHSAT035125

No data

Variant related genes	Relation type
ENSG00000185950	chromatin interactions
ENSG00000132471	chromatin interactions

Extended variants
information (count: 1600 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1600 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12431261	chr13:110644990-110644991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539833291	chr13:110644991-110644992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144317194	chr13:110644992-110644993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566765648	chr13:110645015-110645016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182846392	chr13:110645082-110645083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555693329	chr13:110645100-110645101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148801495	chr13:110645101-110645102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553786554	chr13:110645149-110645150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76312859	chr13:110645201-110645202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557910151	chr13:110645218-110645219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76388477	chr13:110645272-110645273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540232420	chr13:110645284-110645285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141561510	chr13:110645285-110645286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541912420	chr13:110645296-110645297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570635882	chr13:110645327-110645328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528871774	chr13:110645331-110645332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34113636	chr13:110645345-110645346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9521570	chr13:110645410-110645411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139128556	chr13:110645449-110645450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531092497	chr13:110645468-110645469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531029185	chr13:110645543-110645544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550726481	chr13:110645547-110645548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570619159	chr13:110645548-110645549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187131960	chr13:110645606-110645607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143983531	chr13:110645607-110645608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144036587	chr13:110645641-110645642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535827073	chr13:110645656-110645657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72670139	chr13:110645669-110645670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564590012	chr13:110645710-110645711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377365446	chr13:110645728-110645729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538055322	chr13:110645744-110645745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191650714	chr13:110645747-110645748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139840799	chr13:110645798-110645799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371380865	chr13:110645839-110645840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149721078	chr13:110645840-110645841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528777796	chr13:110645863-110645864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183778043	chr13:110645902-110645903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573582288	chr13:110645918-110645919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113407453	chr13:110645946-110645947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117831406	chr13:110645947-110645948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562057704	chr13:110645949-110645950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114247256	chr13:110645976-110645977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145546178	chr13:110646010-110646011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564573335	chr13:110646187-110646188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79635430	chr13:110646192-110646193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112455759	chr13:110646195-110646196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189048558	chr13:110646264-110646265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529549925	chr13:110646271-110646272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386774658	chr13:110646278-110646279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114281037	chr13:110646279-110646280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110638400-110650800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:110643000-110646400	Weak transcription	Ovary	ovary
3	chr13:110643000-110649800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:110646400-110647400	Enhancers	Ovary	ovary
5	chr13:110647200-110647400	Enhancers	Aorta	Aorta
6	chr13:110647400-110647600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr13:110647400-110648400	Weak transcription	Ovary	ovary
8	chr13:110647400-110649800	Weak transcription	Aorta	Aorta
9	chr13:110647600-110648200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:110647600-110651000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:110647600-110651400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:110648200-110648600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:110648400-110648600	Enhancers	Ovary	ovary
14	chr13:110648600-110650600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:110649200-110652600	Enhancers	Liver	Liver
16	chr13:110649800-110650000	Enhancers	Fetal Muscle Leg	muscle
17	chr13:110649800-110652600	Enhancers	Adipose Nuclei	Adipose
18	chr13:110649800-110654800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:110649800-110655000	Enhancers	Hela-S3	cervix
20	chr13:110650000-110650200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:110650000-110650600	Enhancers	A549	lung
22	chr13:110650200-110650400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:110650200-110650600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:110650400-110651400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:110650400-110651600	Weak transcription	Fetal Muscle Leg	muscle
26	chr13:110650400-110652200	Enhancers	Fetal Kidney	kidney
27	chr13:110650400-110655000	Enhancers	HMEC	breast
28	chr13:110650600-110651200	Flanking Active TSS	A549	lung
29	chr13:110650600-110651400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:110650600-110651600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:110650600-110651600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:110650600-110652600	Enhancers	NHEK	skin
33	chr13:110650800-110651800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:110650800-110651800	Enhancers	NH-A	brain
35	chr13:110650800-110652600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:110650800-110655400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:110651000-110651600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:110651000-110652000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr13:110651000-110652200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr13:110651000-110654400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:110651000-110654800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:110651200-110651600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr13:110651200-110651600	Active TSS	A549	lung
44	chr13:110651200-110652000	Enhancers	HSMM	muscle
45	chr13:110651400-110651600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:110651400-110651800	Enhancers	Fetal Brain Male	brain
47	chr13:110651400-110651800	Enhancers	Osteobl	bone
48	chr13:110651400-110652000	Enhancers	NHDF-Ad	bronchial
49	chr13:110651400-110652000	Enhancers	NHLF	lung
50	chr13:110651400-110652200	Enhancers	Brain Hippocampus Middle	brain

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