Variant report

Variant	esv3324493
Chromosome Location	chr13:111148501-111151299
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111145123..111148050-chr13:111150419..111153433,3	K562	blood:
2	chr13:111146550..111148284-chr13:111150740..111153734,2	K562	blood:
3	chr13:111147183..111148852-chr13:111151910..111153653,2	MCF-7	breast:
4	chr13:111137982..111139929-chr13:111150615..111152724,2	K562	blood:
5	chr13:111148436..111150454-chr13:111154372..111156484,2	K562	blood:
6	chr13:111149836..111151933-chr13:111211909..111213452,2	K562	blood:
7	chr13:111146736..111149122-chr13:111366104..111368314,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153487	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561111129	chr13:111148530-111148531	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528291397	chr13:111148557-111148558	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs151105538	chr13:111148658-111148659	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs912947	chr13:111148659-111148660	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140744764	chr13:111148683-111148684	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551035695	chr13:111148705-111148706	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569358595	chr13:111148740-111148741	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114171845	chr13:111148858-111148859	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554786098	chr13:111148861-111148862	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529154695	chr13:111148864-111148865	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368133958	chr13:111148886-111148887	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112012916	chr13:111148892-111148893	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113842217	chr13:111148896-111148897	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7995353	chr13:111148909-111148910	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112533041	chr13:111148921-111148922	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202202311	chr13:111148929-111148930	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7995209	chr13:111148963-111148964	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7995520	chr13:111148964-111148965	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7996570	chr13:111148978-111148979	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7995065	chr13:111148981-111148982	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367735255	chr13:111149006-111149007	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112983836	chr13:111149007-111149008	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7996741	chr13:111149027-111149028	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577162971	chr13:111149068-111149069	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544592126	chr13:111149069-111149070	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7995264	chr13:111149081-111149082	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190968805	chr13:111149108-111149109	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77367126	chr13:111149124-111149125	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76477935	chr13:111149135-111149136	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs9515238	chr13:111149167-111149168	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78088655	chr13:111149178-111149179	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78164855	chr13:111149193-111149194	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79920096	chr13:111149199-111149200	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542674884	chr13:111149212-111149213	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374189081	chr13:111149231-111149232	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369705824	chr13:111149238-111149239	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528244629	chr13:111149239-111149240	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546526148	chr13:111149240-111149241	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78420156	chr13:111149246-111149247	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565168188	chr13:111149275-111149276	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12869268	chr13:111149280-111149281	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550972375	chr13:111149281-111149282	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9555713	chr13:111149288-111149289	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536265718	chr13:111149290-111149291	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182084198	chr13:111149291-111149292	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566853267	chr13:111149336-111149337	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28553946	chr13:111149344-111149345	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28526236	chr13:111149345-111149346	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534398352	chr13:111149356-111149357	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558764648	chr13:111149402-111149403	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
2	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
3	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
4	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
5	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
7	chr13:111109600-111158800	Strong transcription	Ovary	ovary
8	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
12	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
14	chr13:111124400-111152000	Strong transcription	Osteobl	bone
15	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
17	chr13:111127400-111148600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr13:111127600-111148600	Strong transcription	Lung	lung
19	chr13:111127600-111153000	Weak transcription	Brain Substantia Nigra	brain
20	chr13:111127600-111156200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:111130600-111155400	Strong transcription	Left Ventricle	heart
22	chr13:111131000-111149200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:111131000-111151200	Weak transcription	Right Atrium	heart
24	chr13:111131000-111151800	Strong transcription	HUVEC	blood vessel
25	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
26	chr13:111131400-111158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:111131800-111159400	Weak transcription	Esophagus	oesophagus
28	chr13:111132200-111151800	Strong transcription	Adipose Nuclei	Adipose
29	chr13:111132200-111152200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:111132200-111158400	Strong transcription	Colon Smooth Muscle	Colon
31	chr13:111132200-111158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr13:111135600-111148600	Weak transcription	Fetal Kidney	kidney
33	chr13:111136200-111149000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:111138400-111148600	Weak transcription	A549	lung
35	chr13:111138800-111155400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr13:111139600-111157800	Strong transcription	Placenta	Placenta
37	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr13:111139800-111150600	Strong transcription	NH-A	brain
40	chr13:111139800-111155400	Strong transcription	Right Ventricle	heart
41	chr13:111139800-111155600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr13:111139800-111158000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:111140000-111151600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:111140200-111148800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:111140800-111153000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:111141000-111152600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:111141000-111159000	Strong transcription	NHLF	lung
50	chr13:111141200-111149000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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