Variant report

Variant	nsv2682
Chromosome Location	chr2:37015550-37060432
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37038416..37040674-chr2:37042878..37045165,2	MCF-7	breast:
2	chr2:37046287..37047005-chr2:37145243..37146052,3	MCF-7	breast:
3	chr2:37048381..37050442-chr2:37052103..37054094,2	MCF-7	breast:
4	chr2:37038445..37041439-chr2:37044172..37046404,2	MCF-7	breast:
5	chr2:37026042..37027658-chr2:37028263..37030381,2	K562	blood:
6	chr2:37029593..37034563-chr2:37035958..37037760,4	K562	blood:
7	chr2:37034700..37036255-chr2:37423104..37425586,2	K562	blood:
8	chr2:37046380..37047296-chr2:37232183..37232895,3	MCF-7	breast:
9	chr2:37048381..37050442-chr2:37052103..37054094,2	MCF-7	breast:
10	chr2:37047490..37050281-chr2:37192919..37195129,2	K562	blood:
11	chr2:37029593..37034563-chr2:37035958..37037760,4	K562	blood:
12	chr2:37026211..37031295-chr2:37031745..37037130,6	MCF-7	breast:
13	chr2:37038416..37040674-chr2:37042878..37045165,2	MCF-7	breast:
14	chr2:37019404..37022221-chr2:37024181..37026329,2	MCF-7	breast:
15	chr2:37026211..37031295-chr2:37031745..37037130,6	MCF-7	breast:
16	chr2:37026042..37027658-chr2:37028263..37030381,2	K562	blood:
17	chr2:37005141..37008070-chr2:37014842..37017137,3	K562	blood:
18	chr2:37019404..37022221-chr2:37024181..37026329,2	MCF-7	breast:
19	chr2:37014502..37017375-chr2:37021178..37022910,2	K562	blood:
20	chr2:37045354..37047713-chr2:37230824..37232867,2	MCF-7	breast:
21	chr2:37014502..37017375-chr2:37021178..37022910,2	K562	blood:
22	chr2:37038445..37041439-chr2:37044172..37046404,2	MCF-7	breast:
23	chr2:37053268..37055932-chr2:37062190..37065035,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138068	chromatin interactions
ENSG00000115808	chromatin interactions
ENSG00000218739	chromatin interactions

Extended variants
information (count: 2333 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2333 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537166365	chr2:37015570-37015571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555782096	chr2:37015630-37015631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573706115	chr2:37015638-37015639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6544039	chr2:37015703-37015704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553296932	chr2:37015732-37015733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577893998	chr2:37015751-37015752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139605570	chr2:37015766-37015767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190701130	chr2:37015801-37015802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531105235	chr2:37015851-37015852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57278869	chr2:37015854-37015855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149988729	chr2:37015892-37015893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530237315	chr2:37015893-37015894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547414700	chr2:37015901-37015902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181899242	chr2:37015913-37015914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145159508	chr2:37015933-37015934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369913795	chr2:37015965-37015966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148799629	chr2:37015972-37015973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551621834	chr2:37015985-37015986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569775281	chr2:37016006-37016007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11888961	chr2:37016037-37016038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555617516	chr2:37016057-37016058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186643254	chr2:37016062-37016063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192002572	chr2:37016064-37016065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182937386	chr2:37016097-37016098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552932953	chr2:37016148-37016149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577581264	chr2:37016150-37016151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11680457	chr2:37016156-37016157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376495200	chr2:37016163-37016164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557586706	chr2:37016179-37016180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371784347	chr2:37016207-37016208	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111887191	chr2:37016208-37016209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114985577	chr2:37016209-37016210	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561813013	chr2:37016316-37016317	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11691704	chr2:37016330-37016331	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552372507	chr2:37016333-37016334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541063738	chr2:37016334-37016335	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142432248	chr2:37016345-37016346	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188428725	chr2:37016367-37016368	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532915859	chr2:37016377-37016378	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576772892	chr2:37016387-37016388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541319853	chr2:37016391-37016392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551394300	chr2:37016498-37016499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563587760	chr2:37016512-37016513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147955243	chr2:37016526-37016527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548744216	chr2:37016574-37016575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34458480	chr2:37016583-37016584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369872280	chr2:37016632-37016633	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542370523	chr2:37016636-37016637	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567453864	chr2:37016647-37016648	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115425646	chr2:37016674-37016675	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37009800-37016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:37010000-37016000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:37010000-37021600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:37012400-37016400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:37012800-37016200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:37012800-37016200	Weak transcription	Fetal Thymus	thymus
7	chr2:37012800-37024800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:37013000-37015600	Weak transcription	Fetal Heart	heart
9	chr2:37013000-37016200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:37013000-37016200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:37013000-37033000	Weak transcription	Ovary	ovary
12	chr2:37013200-37024400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:37013400-37016200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:37014400-37016800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:37015600-37015800	Enhancers	Fetal Heart	heart
16	chr2:37016000-37016200	Enhancers	Brain Anterior Caudate	brain
17	chr2:37016000-37017200	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:37016200-37016400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:37016200-37017000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:37016200-37017000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:37016200-37017000	Enhancers	GM12878-XiMat	blood
22	chr2:37016200-37017200	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:37016200-37017200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:37016200-37017200	Enhancers	Fetal Thymus	thymus
25	chr2:37016200-37018600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:37016200-37019600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:37016400-37016800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:37016400-37016800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:37016400-37017000	Enhancers	Thymus	Thymus
30	chr2:37016600-37016800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:37016800-37017000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:37016800-37020200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:37016800-37024600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:37017000-37017200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr2:37017000-37018400	Weak transcription	Thymus	Thymus
36	chr2:37017200-37018400	Weak transcription	Fetal Thymus	thymus
37	chr2:37018400-37019200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:37018400-37021200	Enhancers	Thymus	Thymus
39	chr2:37018400-37021400	Enhancers	Fetal Thymus	thymus
40	chr2:37018600-37019800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:37019200-37020800	Enhancers	Dnd41	blood
42	chr2:37019200-37024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:37019600-37021400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:37019800-37020400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:37019800-37020600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:37020000-37020400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:37020000-37020800	Enhancers	Primary T cells from cord blood	blood
48	chr2:37020200-37020600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:37020400-37024400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:37020600-37023800	Weak transcription	Primary T cells fromperipheralblood	blood

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