Variant report

Variant	esv2042972
Chromosome Location	chr13:98148388-98148896
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	chr10:42531904..42532590-chr13:98148609..98149589,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571457749	chr13:98148400-98148401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148399277	chr13:98148407-98148408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116409833	chr13:98148429-98148430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74105498	chr13:98148434-98148435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536264357	chr13:98148435-98148436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141638692	chr13:98148474-98148475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566474584	chr13:98148499-98148500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150529469	chr13:98148515-98148516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558151192	chr13:98148526-98148527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113878847	chr13:98148546-98148547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139518823	chr13:98148565-98148566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116193640	chr13:98148606-98148607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73559986	chr13:98148608-98148609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74105499	chr13:98148609-98148610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542614835	chr13:98148646-98148647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189083989	chr13:98148661-98148662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528467291	chr13:98148667-98148668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545318175	chr13:98148692-98148693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565009054	chr13:98148693-98148694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114197874	chr13:98148742-98148743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117033435	chr13:98148766-98148767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79238347	chr13:98148796-98148797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7331217	chr13:98148852-98148853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535514496	chr13:98148874-98148875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495311	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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	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
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	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
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98146000-98150400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:98147400-98154400	Weak transcription	Right Atrium	heart
3	chr13:98147600-98150600	Enhancers	Fetal Stomach	stomach
4	chr13:98147800-98151200	Enhancers	HepG2	liver
5	chr13:98148000-98153800	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:98148200-98148400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:98148200-98149200	Enhancers	Fetal Lung	lung
8	chr13:98148400-98148800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:98148800-98149200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:98148800-98149200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:98148800-98149200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:98148800-98149400	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links