Variant report

Variant	esv3395718
Chromosome Location	chr2:36725359-36730447
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	chr2:36716629..36720213-chr2:36727612..36730787,3	MCF-7	breast:
2	chr2:36726450..36728384-chr2:36733082..36736034,2	MCF-7	breast:

Extended variants
information (count: 215 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151131228	chr2:36725360-36725361	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192569026	chr2:36725395-36725396	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553781652	chr2:36725410-36725411	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545033249	chr2:36725442-36725443	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4670563	chr2:36725452-36725453	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530737074	chr2:36725512-36725513	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549141524	chr2:36725529-36725530	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576627424	chr2:36725592-36725593	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184474046	chr2:36725665-36725666	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80311910	chr2:36725687-36725688	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187615112	chr2:36725722-36725723	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571412193	chr2:36725727-36725728	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192908771	chr2:36725817-36725818	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533008832	chr2:36725840-36725841	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200428130	chr2:36725912-36725913	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184934674	chr2:36725920-36725921	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377581831	chr2:36725934-36725935	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550575466	chr2:36725975-36725976	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569505025	chr2:36726007-36726008	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113557094	chr2:36726008-36726009	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371891224	chr2:36726043-36726044	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180683230	chr2:36726071-36726072	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573395939	chr2:36726074-36726075	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534702805	chr2:36726085-36726086	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553054846	chr2:36726088-36726089	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140241337	chr2:36726121-36726122	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558575975	chr2:36726126-36726127	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144132857	chr2:36726148-36726149	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576945195	chr2:36726257-36726258	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563303043	chr2:36726270-36726271	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538622396	chr2:36726275-36726276	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575481242	chr2:36726305-36726306	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200267829	chr2:36726317-36726318	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561133654	chr2:36726321-36726322	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146523843	chr2:36726324-36726325	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375715855	chr2:36726352-36726353	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202109107	chr2:36726397-36726398	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35954643	chr2:36726400-36726401	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377625523	chr2:36726405-36726406	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565003825	chr2:36726416-36726417	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371361879	chr2:36726423-36726424	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375356337	chr2:36726453-36726454	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374553015	chr2:36726454-36726455	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139161726	chr2:36726463-36726464	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59890798	chr2:36726500-36726501	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371409342	chr2:36726535-36726536	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76008222	chr2:36726563-36726564	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559369885	chr2:36726570-36726571	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184564899	chr2:36726598-36726599	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530408681	chr2:36726610-36726611	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
2	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
4	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:36708800-36726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
10	chr2:36709400-36726600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
14	chr2:36710400-36726600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:36711200-36726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:36711400-36726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:36711400-36726400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:36711400-36726600	Weak transcription	Esophagus	oesophagus
19	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
20	chr2:36711600-36726800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:36711800-36726400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:36712000-36726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:36712000-36726400	Weak transcription	Spleen	Spleen
24	chr2:36712000-36726600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:36712000-36726600	Weak transcription	Gastric	stomach
26	chr2:36712600-36726400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:36712600-36727000	Weak transcription	Right Ventricle	heart
28	chr2:36712800-36726400	Weak transcription	Fetal Brain Female	brain
29	chr2:36712800-36726800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:36713000-36726400	Weak transcription	Left Ventricle	heart
31	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
32	chr2:36713600-36726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:36713800-36726600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:36713800-36726600	Weak transcription	Ovary	ovary
36	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
37	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:36714400-36725400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:36714400-36726600	Weak transcription	Fetal Stomach	stomach
40	chr2:36714600-36725400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:36714800-36726000	Weak transcription	Fetal Lung	lung
42	chr2:36715400-36726400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:36716200-36726600	Weak transcription	Fetal Intestine Small	intestine
44	chr2:36717200-36725600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:36717200-36733000	Genic enhancers	A549	lung
46	chr2:36717400-36726600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:36717400-36744400	Weak transcription	Brain Angular Gyrus	brain
48	chr2:36717600-36727000	Strong transcription	HepG2	liver
49	chr2:36718000-36726600	Weak transcription	Lung	lung
50	chr2:36718200-36726600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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