Variant report

Variant	esv3323362
Chromosome Location	chr2:37201448-37202496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37190637..37196620-chr2:37200622..37205629,7	K562	blood:
2	chr2:37200625..37203059-chr2:37207408..37209806,2	MCF-7	breast:
3	chr2:37194014..37195839-chr2:37202260..37204776,2	MCF-7	breast:
4	chr2:37192081..37194283-chr2:37200274..37202081,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115808	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368248665	chr2:37201453-37201454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570544054	chr2:37201462-37201463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531539730	chr2:37201491-37201492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376326453	chr2:37201499-37201500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553750042	chr2:37201504-37201505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370722868	chr2:37201517-37201518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568361848	chr2:37201550-37201551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535785927	chr2:37201587-37201588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553782908	chr2:37201592-37201593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565729025	chr2:37201593-37201594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568664728	chr2:37201598-37201599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111361006	chr2:37201671-37201672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs180905462	chr2:37201735-37201736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574469973	chr2:37201738-37201739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13030152	chr2:37201741-37201742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371289894	chr2:37201745-37201746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376508404	chr2:37201791-37201792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370994207	chr2:37201793-37201794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs70946963	chr2:37201795-37201796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs60084081	chr2:37201797-37201798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs60703612	chr2:37201811-37201812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540775847	chr2:37201832-37201833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373295679	chr2:37201849-37201850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6746829	chr2:37201892-37201893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577605133	chr2:37201897-37201898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536088389	chr2:37201900-37201901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186319479	chr2:37201924-37201925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554223393	chr2:37201929-37201930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201310027	chr2:37201950-37201951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562851482	chr2:37201976-37201977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71848432	chr2:37201977-37201978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75887177	chr2:37202022-37202023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576513383	chr2:37202068-37202069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537673696	chr2:37202072-37202073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191117840	chr2:37202086-37202087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183334429	chr2:37202145-37202146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141803387	chr2:37202151-37202152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575669914	chr2:37202155-37202156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187114677	chr2:37202158-37202159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545057246	chr2:37202176-37202177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568598185	chr2:37202233-37202234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150584297	chr2:37202256-37202257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531374976	chr2:37202263-37202264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546242598	chr2:37202279-37202280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549934707	chr2:37202349-37202350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191145674	chr2:37202354-37202355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529200903	chr2:37202385-37202386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547756005	chr2:37202442-37202443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6544049	chr2:37202456-37202457	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6750356	chr2:37202461-37202462	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37194400-37214200	Weak transcription	Pancreas	Pancrea
2	chr2:37194400-37229000	Weak transcription	Gastric	stomach
3	chr2:37194800-37206200	Weak transcription	Brain Germinal Matrix	brain
4	chr2:37194800-37211600	Weak transcription	HSMM	muscle
5	chr2:37194800-37226400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:37194800-37232400	Weak transcription	NHLF	lung
7	chr2:37195000-37206200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:37195000-37206400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:37195000-37206800	Weak transcription	Primary B cells from cord blood	blood
10	chr2:37195000-37206800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:37195000-37213800	Weak transcription	Right Ventricle	heart
12	chr2:37195000-37224200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:37195200-37202600	Weak transcription	Right Atrium	heart
14	chr2:37195200-37202600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:37195200-37205600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:37195200-37206000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:37195200-37206200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:37195200-37206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:37195200-37206400	Weak transcription	Fetal Brain Female	brain
20	chr2:37195200-37206600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:37195200-37206800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:37195200-37207600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:37195200-37211200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:37195200-37214000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:37195200-37217400	Weak transcription	NHDF-Ad	bronchial
26	chr2:37195200-37225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:37195400-37206400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:37195400-37206600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:37195400-37207400	Weak transcription	GM12878-XiMat	blood
31	chr2:37195400-37207800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:37195400-37208600	Weak transcription	Osteobl	bone
33	chr2:37195400-37213800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:37195400-37215000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:37195400-37217600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:37195400-37227400	Weak transcription	A549	lung
37	chr2:37195400-37227600	Weak transcription	HUVEC	blood vessel
38	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:37195600-37205800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:37195600-37206600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:37195600-37215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:37195600-37231400	Weak transcription	Brain Angular Gyrus	brain
43	chr2:37195800-37206000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:37195800-37206400	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:37195800-37207000	Weak transcription	Fetal Lung	lung
46	chr2:37195800-37208800	Weak transcription	Fetal Intestine Large	intestine
47	chr2:37195800-37229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:37196000-37206800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:37196000-37206800	Weak transcription	Fetal Intestine Small	intestine
50	chr2:37196000-37207800	Weak transcription	Duodenum Mucosa	Duodenum

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