Variant report

Variant	nsv978993
Chromosome Location	chr2:37251826-37260761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:
2	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:
3	chr2:37250519..37253429-chr2:85770477..85772159,2	MCF-7	breast:
4	chr2:37193009..37195682-chr2:37250815..37252662,2	K562	blood:
5	chr2:37258831..37261022-chr2:37271777..37274021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115808	chromatin interactions

Extended variants
information (count: 412 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116296568	chr2:37251838-37251839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374849896	chr2:37251873-37251874	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535114046	chr2:37251894-37251895	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547079567	chr2:37251920-37251921	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565483827	chr2:37251927-37251928	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180948937	chr2:37251950-37251951	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545067524	chr2:37251968-37251969	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558338063	chr2:37251969-37251970	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545890265	chr2:37251973-37251974	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183667403	chr2:37251975-37251976	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189500890	chr2:37251982-37251983	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556132912	chr2:37251988-37251989	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574077056	chr2:37252029-37252030	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181772494	chr2:37252050-37252051	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553459041	chr2:37252105-37252106	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149386221	chr2:37252124-37252125	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111670899	chr2:37252135-37252136	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564328370	chr2:37252139-37252140	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187370739	chr2:37252145-37252146	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191745626	chr2:37252147-37252148	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561688049	chr2:37252183-37252184	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528854191	chr2:37252192-37252193	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1008839	chr2:37252196-37252197	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs565394736	chr2:37252220-37252221	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543240118	chr2:37252222-37252223	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1008838	chr2:37252235-37252236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs551652099	chr2:37252256-37252257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570207486	chr2:37252262-37252263	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114449503	chr2:37252265-37252266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370993457	chr2:37252267-37252268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551366714	chr2:37252283-37252284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374026457	chr2:37252381-37252382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148092397	chr2:37252413-37252414	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532092879	chr2:37252436-37252437	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367945348	chr2:37252440-37252441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6731315	chr2:37252442-37252443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534976940	chr2:37252456-37252457	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371354811	chr2:37252486-37252487	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534190375	chr2:37252511-37252512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181759753	chr2:37252545-37252546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77637184	chr2:37252575-37252576	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553029514	chr2:37252608-37252609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114537544	chr2:37252619-37252620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77522409	chr2:37252624-37252625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576175816	chr2:37252634-37252635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116350384	chr2:37252664-37252665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141815198	chr2:37252704-37252705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7595362	chr2:37252709-37252710	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186474728	chr2:37252718-37252719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540587282	chr2:37252734-37252735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
3	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
11	chr2:37233000-37253000	Weak transcription	NHEK	skin
12	chr2:37237600-37255400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:37238200-37255200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:37238400-37260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:37240200-37260800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:37240400-37254200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:37241000-37272600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:37241200-37253000	Weak transcription	Fetal Kidney	kidney
24	chr2:37241200-37253000	Weak transcription	HMEC	breast
25	chr2:37241200-37256600	Weak transcription	Gastric	stomach
26	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:37242200-37253200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:37242200-37265800	Strong transcription	Liver	Liver
31	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:37242800-37256200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:37243000-37253200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:37244200-37255200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:37244600-37256200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:37244800-37256000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:37245000-37261400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:37245400-37260000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:37246000-37253200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:37246000-37253200	Weak transcription	Dnd41	blood
41	chr2:37246200-37253200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:37246400-37253200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:37246800-37279800	Weak transcription	Pancreas	Pancrea
45	chr2:37247000-37279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:37247200-37256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:37247800-37253200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:37247800-37253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:37248400-37255400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:37248600-37253200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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