Variant report

Variant	esv3417895
Chromosome Location	chr2:36719330-36719794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36717130..36719655-chr2:36721302..36723135,2	K562	blood:
2	chr2:36704675..36707940-chr2:36716381..36719591,3	MCF-7	breast:
3	chr2:36716629..36720213-chr2:36727612..36730787,3	MCF-7	breast:
4	chr2:36583009..36585112-chr2:36718296..36720508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150938	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551408323	chr2:36719334-36719335	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11124517	chr2:36719337-36719338	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148509327	chr2:36719348-36719349	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4670562	chr2:36719390-36719391	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190515125	chr2:36719392-36719393	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370516441	chr2:36719432-36719433	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534803836	chr2:36719488-36719489	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367889498	chr2:36719514-36719515	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553472032	chr2:36719521-36719522	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142955377	chr2:36719564-36719565	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538977006	chr2:36719608-36719609	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554887272	chr2:36719615-36719616	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11891240	chr2:36719622-36719623	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370368005	chr2:36719656-36719657	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542950008	chr2:36719669-36719670	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151120988	chr2:36719768-36719769	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374713496	chr2:36719781-36719782	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368768827	chr2:36719783-36719784	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	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:101 , 50 per page) page: 1 2 3

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	chr2:36708800-36720800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:36708800-36726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:36709000-36719600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
12	chr2:36709400-36726600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:36710400-36726600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:36711200-36726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:36711400-36726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:36711400-36726400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:36711400-36726600	Weak transcription	Esophagus	oesophagus
21	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
22	chr2:36711600-36726800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:36711800-36726400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:36712000-36720000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:36712000-36726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:36712000-36726400	Weak transcription	Spleen	Spleen
27	chr2:36712000-36726600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:36712000-36726600	Weak transcription	Gastric	stomach
29	chr2:36712600-36726400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:36712600-36727000	Weak transcription	Right Ventricle	heart
31	chr2:36712800-36719600	Weak transcription	Brain Anterior Caudate	brain
32	chr2:36712800-36726400	Weak transcription	Fetal Brain Female	brain
33	chr2:36712800-36726800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:36713000-36721800	Weak transcription	Fetal Intestine Large	intestine
35	chr2:36713000-36726400	Weak transcription	Left Ventricle	heart
36	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
37	chr2:36713600-36726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:36713800-36726600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:36713800-36726600	Weak transcription	Ovary	ovary
41	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
42	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:36714000-36720200	Genic enhancers	HSMM	muscle
44	chr2:36714000-36720400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:36714000-36720600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:36714000-36720800	Genic enhancers	Osteobl	bone
47	chr2:36714000-36722200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:36714400-36720800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:36714400-36720800	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr2:36714400-36720800	Genic enhancers	HUVEC	blood vessel

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