Variant report

Variant	nsv961026
Chromosome Location	chr2:37143722-37146884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37138982..37142311-chr2:37143440..37145643,3	K562	blood:
2	chr2:37135486..37138382-chr2:37141654..37143991,3	K562	blood:
3	chr2:37146002..37148856-chr2:37178765..37180451,2	K562	blood:
4	chr2:37007149..37007661-chr2:37145609..37146127,2	MCF-7	breast:
5	chr2:37046287..37047005-chr2:37145243..37146052,3	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571517215	chr2:37143722-37143723	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375791631	chr2:37143765-37143766	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551480318	chr2:37143802-37143803	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369888945	chr2:37143805-37143806	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187077810	chr2:37143818-37143819	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550582523	chr2:37143857-37143858	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190041298	chr2:37143868-37143869	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182676837	chr2:37143892-37143893	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114166591	chr2:37143915-37143916	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566903242	chr2:37143922-37143923	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142893918	chr2:37143923-37143924	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539016031	chr2:37143960-37143961	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374030118	chr2:37143988-37143989	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558925007	chr2:37143994-37143995	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577450028	chr2:37144007-37144008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538175305	chr2:37144115-37144116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556111406	chr2:37144146-37144147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574508916	chr2:37144152-37144153	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541881787	chr2:37144183-37144184	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560639140	chr2:37144188-37144189	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61674474	chr2:37144195-37144196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200069658	chr2:37144196-37144197	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564970243	chr2:37144198-37144199	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532428312	chr2:37144199-37144200	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550906990	chr2:37144213-37144214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562424861	chr2:37144216-37144217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77803221	chr2:37144246-37144247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138405396	chr2:37144247-37144248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397964501	chr2:37144249-37144250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372383091	chr2:37144273-37144274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186632120	chr2:37144284-37144285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140042406	chr2:37144300-37144301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566551771	chr2:37144305-37144306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141924686	chr2:37144308-37144309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76380228	chr2:37144316-37144317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7593646	chr2:37144338-37144339	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75212419	chr2:37144356-37144357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538115607	chr2:37144365-37144366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527370392	chr2:37144379-37144380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7579735	chr2:37144392-37144393	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574447518	chr2:37144413-37144414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373290564	chr2:37144468-37144469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377462716	chr2:37144493-37144494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557817625	chr2:37144527-37144528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553921255	chr2:37144533-37144534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572489614	chr2:37144602-37144603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191088431	chr2:37144607-37144608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144852847	chr2:37144614-37144615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182880720	chr2:37144635-37144636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376660515	chr2:37144673-37144674	Weak transcription	n/a	n/a	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
6	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:37105000-37164600	Weak transcription	Lung	lung
10	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
12	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
13	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
14	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
15	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
19	chr2:37120000-37153800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:37120200-37149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
22	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
23	chr2:37121000-37145200	Weak transcription	Fetal Lung	lung
24	chr2:37121200-37145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:37121200-37148600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:37121200-37153600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:37121600-37146400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:37121800-37145800	Weak transcription	A549	lung
29	chr2:37126200-37153600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:37127800-37157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:37131600-37153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:37131800-37153600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:37132000-37145800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:37132200-37153600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
37	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:37137800-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:37138200-37144200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:37138400-37152000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:37138600-37160600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:37139400-37144600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:37139400-37148600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:37139600-37154400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:37139800-37143800	Weak transcription	Adipose Nuclei	Adipose
46	chr2:37139800-37145800	Weak transcription	Aorta	Aorta
47	chr2:37140000-37145200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:37140000-37147000	Weak transcription	Ovary	ovary
49	chr2:37140000-37153600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:37140400-37153600	Weak transcription	Rectal Mucosa Donor 31	rectum

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