Variant report

Variant	esv3340518
Chromosome Location	chr2:54805888-54806279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54763015..54764801-chr2:54803765..54806395,2	K562	blood:
2	chr2:54735530..54737587-chr2:54805600..54807327,2	MCF-7	breast:
3	chr2:54804194..54805987-chr2:54812413..54815195,2	MCF-7	breast:
4	chr2:54806062..54808345-chr2:54823269..54826209,2	MCF-7	breast:
5	chr2:54781728..54792106-chr2:54796721..54808716,28	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574896473	chr2:54805888-54805889	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71408773	chr2:54805905-54805906	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34536803	chr2:54805915-54805916	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565058736	chr2:54805948-54805949	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs59241060	chr2:54805971-54805972	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553855410	chr2:54806030-54806031	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573747384	chr2:54806034-54806035	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386646264	chr2:54806047-54806048	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113720818	chr2:54806048-54806049	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10208225	chr2:54806049-54806050	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs576367737	chr2:54806053-54806054	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187489746	chr2:54806086-54806087	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144420678	chr2:54806098-54806099	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192672606	chr2:54806103-54806104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567236317	chr2:54806127-54806128	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74674041	chr2:54806155-54806156	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546776752	chr2:54806160-54806161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560292705	chr2:54806215-54806216	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529047722	chr2:54806239-54806240	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567471771	chr2:54806241-54806242	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117387140	chr2:54806255-54806256	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536453112	chr2:54806260-54806261	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung adenocarcinoma	17086460	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
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54795800-54807000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:54795800-54807600	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr2:54796000-54807600	Enhancers	Brain Angular Gyrus	brain
4	chr2:54796200-54806200	Enhancers	Right Atrium	heart
5	chr2:54796200-54806400	Enhancers	Brain Anterior Caudate	brain
6	chr2:54796200-54806800	Enhancers	Pancreas	Pancrea
7	chr2:54796400-54808800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:54796800-54806800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:54796800-54807400	Enhancers	Psoas Muscle	Psoas
10	chr2:54796800-54810200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:54796800-54810600	Enhancers	Small Intestine	intestine
12	chr2:54797400-54808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:54797800-54807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:54798800-54806400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:54798800-54806600	Weak transcription	Fetal Brain Male	brain
16	chr2:54800000-54807400	Enhancers	Right Ventricle	heart
17	chr2:54800200-54806400	Enhancers	Stomach Mucosa	stomach
18	chr2:54800800-54807000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:54801600-54806200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:54801600-54806600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:54801600-54808600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:54801800-54806400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:54801800-54806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:54801800-54806600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:54801800-54806600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:54801800-54806600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:54801800-54807400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:54801800-54811000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:54802000-54806400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:54802000-54807000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:54802000-54808400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:54802000-54816400	Enhancers	Liver	Liver
33	chr2:54802200-54806600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
35	chr2:54802400-54808600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:54802600-54806400	Enhancers	Colonic Mucosa	Colon
37	chr2:54802800-54806400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:54802800-54806600	Weak transcription	K562	blood
39	chr2:54803000-54806000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:54803000-54806600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:54803000-54807200	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:54803000-54807200	Weak transcription	Dnd41	blood
43	chr2:54803000-54807800	Enhancers	Brain Hippocampus Middle	brain
44	chr2:54803200-54806600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:54803200-54806600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:54803200-54807000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:54803200-54807600	Enhancers	HMEC	breast
48	chr2:54803400-54807200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:54803600-54806200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:54803600-54806800	Enhancers	Cortex derived primary cultured neurospheres	brain

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