Variant report

Variant	esv3459534
Chromosome Location	chr2:37347582-37348519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37336683..37339266-chr2:37345698..37347982,2	K562	blood:
2	chr2:37342656..37344235-chr2:37346299..37347837,2	MCF-7	breast:
3	chr2:37347811..37350373-chr2:37350894..37352839,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 61 )

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	rs572058484	chr2:37347583-37347584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149742008	chr2:37347589-37347590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534550952	chr2:37347602-37347603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552836636	chr2:37347616-37347617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372217421	chr2:37347669-37347670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571240631	chr2:37347687-37347688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145574453	chr2:37347745-37347746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556887251	chr2:37347746-37347747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575148086	chr2:37347816-37347817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4648216	chr2:37347863-37347864	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554708875	chr2:37347871-37347872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573472883	chr2:37347882-37347883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4648215	chr2:37347891-37347892	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565564520	chr2:37347900-37347901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191852976	chr2:37347913-37347914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544602891	chr2:37347943-37347944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562870292	chr2:37347963-37347964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530041403	chr2:37347974-37347975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548271703	chr2:37347993-37347994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566663124	chr2:37348026-37348027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376157449	chr2:37348106-37348107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs70949732	chr2:37348113-37348114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528253881	chr2:37348129-37348130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370567521	chr2:37348132-37348133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35664277	chr2:37348147-37348148	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs571373572	chr2:37348207-37348208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556026367	chr2:37348208-37348209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11124560	chr2:37348212-37348213	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556984394	chr2:37348218-37348219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568789325	chr2:37348222-37348223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536300993	chr2:37348231-37348232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566641986	chr2:37348233-37348234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372803575	chr2:37348234-37348235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573010765	chr2:37348255-37348256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540810047	chr2:37348262-37348263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368347790	chr2:37348263-37348264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559168409	chr2:37348273-37348274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534002244	chr2:37348275-37348276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371846980	chr2:37348299-37348300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56817654	chr2:37348321-37348322	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146828827	chr2:37348376-37348377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183939571	chr2:37348386-37348387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140607671	chr2:37348392-37348393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75857433	chr2:37348405-37348406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76446797	chr2:37348409-37348410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs70949733	chr2:37348428-37348429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372447249	chr2:37348429-37348430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202195737	chr2:37348432-37348433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372088779	chr2:37348435-37348436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188271224	chr2:37348453-37348454	Weak transcription 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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:37320600-37368000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:37321600-37348600	Weak transcription	Colonic Mucosa	Colon
7	chr2:37322400-37352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:37327000-37349200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:37328200-37349000	Weak transcription	Aorta	Aorta
10	chr2:37331200-37348800	Weak transcription	K562	blood
11	chr2:37332600-37375200	Strong transcription	Liver	Liver
12	chr2:37332800-37351200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:37333400-37362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:37333400-37366400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:37335600-37370400	Weak transcription	Fetal Heart	heart
17	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
18	chr2:37336600-37352600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:37336800-37349000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:37336800-37360000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:37337200-37353000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:37337400-37349000	Weak transcription	HSMMtube	muscle
23	chr2:37338400-37349000	Weak transcription	HMEC	breast
24	chr2:37339200-37347600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:37339800-37376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:37340200-37348800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:37340200-37350600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:37341200-37352400	Weak transcription	NH-A	brain
29	chr2:37341600-37369000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:37341800-37352200	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:37342200-37367800	Strong transcription	Fetal Stomach	stomach
32	chr2:37342400-37357000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:37342400-37376400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:37342400-37376400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:37342400-37376600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:37342600-37357800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:37343800-37349200	Weak transcription	HUVEC	blood vessel
38	chr2:37344000-37348600	Weak transcription	Fetal Kidney	kidney
39	chr2:37344000-37349000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:37344000-37352200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:37344200-37350600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:37344800-37349000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:37345000-37349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:37345200-37348800	Weak transcription	Gastric	stomach
45	chr2:37345200-37349000	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:37345200-37349600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:37346200-37349000	Weak transcription	Right Ventricle	heart
48	chr2:37346200-37358200	Strong transcription	Fetal Intestine Small	intestine
49	chr2:37346400-37348800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:37346400-37360400	Weak transcription	Fetal Brain Male	brain

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