Variant report

Variant	esv3375113
Chromosome Location	chr13:111220808-111221015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111218856..111221528-chr13:111223339..111226099,2	MCF-7	breast:
2	chr13:111215515..111217853-chr13:111220246..111222772,2	K562	blood:
3	chr13:111219811..111221747-chr13:111222787..111224994,3	MCF-7	breast:
4	chr13:111218354..111220866-chr13:111267376..111269230,2	MCF-7	breast:
5	chr13:111219339..111221214-chr13:111365505..111367799,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134905	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000213995	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370661201	chr13:111220822-111220823	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs540902388	chr13:111220829-111220830	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs565583071	chr13:111220834-111220835	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs191288718	chr13:111220839-111220840	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs148203819	chr13:111220841-111220842	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs9521845	chr13:111220842-111220843	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs565872304	chr13:111220846-111220847	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs73628417	chr13:111220867-111220868	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548683613	chr13:111220888-111220889	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567095336	chr13:111220933-111220934	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370223291	chr13:111220949-111220950	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557557238	chr13:111220955-111220956	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111214800-111226400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111215400-111221000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:111215600-111222600	Weak transcription	Ovary	ovary
4	chr13:111216000-111227800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:111216000-111227800	Weak transcription	Gastric	stomach
6	chr13:111216200-111221000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:111216200-111221600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:111216200-111223200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:111216200-111226400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:111216600-111223000	Weak transcription	Fetal Intestine Small	intestine
11	chr13:111217200-111227600	Weak transcription	Spleen	Spleen
12	chr13:111217200-111227800	Weak transcription	Pancreas	Pancrea
13	chr13:111217400-111221200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:111217400-111227400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr13:111217600-111223400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:111217600-111224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:111217800-111221600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:111218800-111221000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:111218800-111227800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:111220000-111221000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr13:111220000-111221200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr13:111220000-111222800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:111220400-111223200	Weak transcription	Fetal Intestine Large	intestine
24	chr13:111221000-111221600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:111221000-111221600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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