Variant report

Variant	esv3459570
Chromosome Location	chr2:53898749-53899108
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	chr2:53894424..53897447-chr2:53898122..53902216,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575381980	chr2:53898761-53898762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544298201	chr2:53898770-53898771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71413245	chr2:53898822-53898823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386646206	chr2:53898827-53898828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548523375	chr2:53898828-53898829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565950716	chr2:53898831-53898832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558984794	chr2:53898842-53898843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181654960	chr2:53898872-53898873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201308530	chr2:53898896-53898897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79781884	chr2:53898897-53898898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560885999	chr2:53898905-53898906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529238292	chr2:53898931-53898932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187114325	chr2:53898932-53898933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562544322	chr2:53898953-53898954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531663748	chr2:53898959-53898960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190211097	chr2:53898990-53898991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570534216	chr2:53898994-53898995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533202096	chr2:53899020-53899021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7573412	chr2:53899064-53899065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79855484	chr2:53899098-53899099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371927958	chr2:53899105-53899106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:53885600-53925000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:53885800-53911800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:53887800-53899800	Weak transcription	Primary B cells from cord blood	blood
6	chr2:53888200-53934200	Weak transcription	Lung	lung
7	chr2:53888400-53935200	Weak transcription	Fetal Brain Male	brain
8	chr2:53888600-53935200	Weak transcription	Hela-S3	cervix
9	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:53891600-53900000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:53892600-53902600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:53892600-53918800	Weak transcription	Left Ventricle	heart
13	chr2:53893400-53915200	Weak transcription	Ovary	ovary
14	chr2:53893800-53926800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:53894200-53920800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:53894400-53900400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:53894400-53912200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:53894400-53914400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:53894400-53925000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:53894400-53933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:53894600-53900000	Weak transcription	Stomach Mucosa	stomach
22	chr2:53894600-53911200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:53894800-53900000	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:53895000-53900200	Weak transcription	Brain Substantia Nigra	brain
25	chr2:53895000-53911800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:53895400-53919000	Weak transcription	Fetal Intestine Large	intestine
27	chr2:53895400-53921200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:53895400-53925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:53895400-53926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:53895600-53914800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:53895600-53921400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:53895800-53916800	Weak transcription	Brain Anterior Caudate	brain
33	chr2:53895800-53926200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:53896000-53899400	Weak transcription	GM12878-XiMat	blood
35	chr2:53896000-53900000	Weak transcription	HSMM	muscle
36	chr2:53896000-53913000	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:53896000-53918800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:53896200-53911200	Weak transcription	Liver	Liver
39	chr2:53896200-53918400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:53896400-53926000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:53896600-53899600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:53896600-53900000	Weak transcription	Fetal Heart	heart
43	chr2:53896800-53900200	Weak transcription	NH-A	brain
44	chr2:53896800-53910200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:53896800-53910800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:53896800-53918800	Weak transcription	Fetal Brain Female	brain
47	chr2:53896800-53924800	Weak transcription	Thymus	Thymus
48	chr2:53896800-53936600	Weak transcription	Aorta	Aorta
49	chr2:53897000-53899600	Weak transcription	HepG2	liver
50	chr2:53897000-53910400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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