Variant report

Variant	esv3335720
Chromosome Location	chr2:55366910-55367464
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55275283..55277414-chr2:55365767..55368496,2	MCF-7	breast:
2	chr2:55344367..55347078-chr2:55367240..55368928,2	K562	blood:
3	chr2:55366215..55370139-chr2:55381125..55383848,4	K562	blood:
4	chr2:55366681..55370422-chr2:55372358..55376649,9	K562	blood:
5	chr2:55348151..55351160-chr2:55366268..55368623,3	K562	blood:
6	chr2:55275938..55279901-chr2:55364740..55369438,15	K562	blood:
7	chr2:55366338..55369324-chr2:55384110..55386041,3	K562	blood:
8	chr2:55362876..55365443-chr2:55367028..55369648,3	MCF-7	breast:
9	chr2:55356536..55358953-chr2:55366284..55369182,2	K562	blood:
10	chr2:55282373..55283908-chr2:55365419..55368090,2	K562	blood:
11	chr2:55272140..55279868-chr2:55356344..55371606,28	K562	blood:
12	chr2:55366215..55370313-chr2:55376970..55382641,6	K562	blood:
13	chr2:55366570..55369324-chr2:55383738..55386041,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560444541	chr2:55366928-55366929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145094125	chr2:55366944-55366945	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191336618	chr2:55366960-55366961	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563206418	chr2:55366985-55366986	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182828788	chr2:55366995-55366996	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551010680	chr2:55367003-55367004	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199749336	chr2:55367021-55367022	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559894572	chr2:55367025-55367026	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374371867	chr2:55367026-55367027	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376808103	chr2:55367036-55367037	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533676318	chr2:55367047-55367048	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547487329	chr2:55367052-55367053	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567323465	chr2:55367095-55367096	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6731596	chr2:55367097-55367098	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149124371	chr2:55367099-55367100	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs57385616	chr2:55367100-55367101	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538219671	chr2:55367115-55367116	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548922882	chr2:55367160-55367161	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373468740	chr2:55367175-55367176	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568300006	chr2:55367216-55367217	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142214279	chr2:55367267-55367268	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551868472	chr2:55367308-55367309	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372317729	chr2:55367351-55367352	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186118784	chr2:55367375-55367376	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6745066	chr2:55367382-55367383	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189528801	chr2:55367407-55367408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543247911	chr2:55367419-55367420	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564156981	chr2:55367442-55367443	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369663882	chr2:55367461-55367462	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55361400-55370200	Enhancers	Fetal Intestine Large	intestine
2	chr2:55361600-55368200	Weak transcription	Esophagus	oesophagus
3	chr2:55361800-55367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:55361800-55368000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:55361800-55368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:55361800-55368800	Weak transcription	A549	lung
7	chr2:55361800-55373000	Weak transcription	HSMMtube	muscle
8	chr2:55361800-55378600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:55362200-55367600	Weak transcription	Dnd41	blood
10	chr2:55362200-55369000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:55362400-55368800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:55363200-55367200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:55363200-55367800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:55363600-55367200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:55363600-55368800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:55363800-55367200	Enhancers	Stomach Mucosa	stomach
17	chr2:55363800-55368600	Weak transcription	Pancreas	Pancrea
18	chr2:55363800-55370400	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:55364000-55368600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:55364200-55369000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:55364800-55367200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:55364800-55367600	Weak transcription	Fetal Thymus	thymus
23	chr2:55364800-55369000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:55365000-55367000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:55365200-55367000	Weak transcription	Gastric	stomach
26	chr2:55365200-55369000	Flanking Active TSS	K562	blood
27	chr2:55365200-55369200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:55365400-55367600	Weak transcription	Fetal Intestine Small	intestine
30	chr2:55365600-55368200	Weak transcription	Right Atrium	heart
31	chr2:55365600-55378600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:55365800-55367200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:55365800-55367200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:55365800-55367600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:55365800-55369000	Enhancers	Brain Angular Gyrus	brain
36	chr2:55365800-55369000	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:55366000-55367000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:55366000-55367000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:55366000-55368400	Weak transcription	Small Intestine	intestine
40	chr2:55366000-55368600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:55366000-55368600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:55366200-55368600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:55366200-55368800	Weak transcription	Fetal Stomach	stomach
44	chr2:55366200-55378600	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:55366400-55367000	Weak transcription	Fetal Brain Male	brain
46	chr2:55366400-55367200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:55366400-55367200	Enhancers	Lung	lung
48	chr2:55366400-55367600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:55366400-55368400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:55366400-55368800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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