Variant report

Variant	nsv963871
Chromosome Location	chr2:36896580-36913813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36907958..36910188-chr2:36910655..36912308,2	K562	blood:
2	chr2:36911367..36912929-chr2:36921132..36924057,2	K562	blood:
3	chr2:36907958..36910188-chr2:36910655..36912308,2	K562	blood:
4	chr14:39344148..39344668-chr2:36899113..36899743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205221	chromatin interactions

Extended variants
information (count: 623 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2372704	chr2:36896583-36896584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546598855	chr2:36896589-36896590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13003451	chr2:36896603-36896604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540509793	chr2:36896654-36896655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529966882	chr2:36896673-36896674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191918311	chr2:36896675-36896676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532593416	chr2:36896706-36896707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2372705	chr2:36896707-36896708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2888391	chr2:36896711-36896712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530533569	chr2:36896726-36896727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548970094	chr2:36896797-36896798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567245411	chr2:36896800-36896801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201568455	chr2:36896802-36896803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528426318	chr2:36896804-36896805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199604466	chr2:36896805-36896806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548333219	chr2:36896810-36896811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546915612	chr2:36896818-36896819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2372706	chr2:36896844-36896845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148960643	chr2:36896875-36896876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs66882309	chr2:36896888-36896889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59668021	chr2:36896897-36896898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7420911	chr2:36896898-36896899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538417412	chr2:36896906-36896907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144671561	chr2:36896935-36896936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148594611	chr2:36896961-36896962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565577686	chr2:36896969-36896970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7608120	chr2:36897002-36897003	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184211677	chr2:36897006-36897007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186612750	chr2:36897020-36897021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572893702	chr2:36897042-36897043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534266994	chr2:36897062-36897063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558938830	chr2:36897064-36897065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139623734	chr2:36897072-36897073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75119736	chr2:36897073-36897074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142963580	chr2:36897087-36897088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544443559	chr2:36897106-36897107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs118018439	chr2:36897111-36897112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192764432	chr2:36897180-36897181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575437593	chr2:36897234-36897235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7558205	chr2:36897313-36897314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1468808	chr2:36897322-36897323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528957526	chr2:36897343-36897344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1468807	chr2:36897359-36897360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs77732270	chr2:36897364-36897365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553005670	chr2:36897393-36897394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375724562	chr2:36897400-36897401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114588164	chr2:36897405-36897406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565000849	chr2:36897426-36897427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185429664	chr2:36897440-36897441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550531056	chr2:36897452-36897453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36891400-36897800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:36891400-36897800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:36891600-36897600	Weak transcription	Osteobl	bone
4	chr2:36892000-36900200	Weak transcription	A549	lung
5	chr2:36892400-36898200	Weak transcription	NHDF-Ad	bronchial
6	chr2:36892800-36897800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:36892800-36898200	Weak transcription	NHLF	lung
8	chr2:36895200-36897000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:36895200-36897200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:36895400-36897800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:36895400-36897800	Weak transcription	HUVEC	blood vessel
12	chr2:36895800-36903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:36897000-36897600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:36897200-36897400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:36897200-36898400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:36897400-36898000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:36897600-36898800	Enhancers	Osteobl	bone
18	chr2:36897800-36898400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:36897800-36898600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:36897800-36898600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:36897800-36898600	Enhancers	HUVEC	blood vessel
22	chr2:36897800-36898800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:36897800-36898800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:36897800-36899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:36897800-36899200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:36898000-36898400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:36898000-36898600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:36898000-36898600	Enhancers	NH-A	brain
29	chr2:36898000-36899200	Enhancers	HSMM	muscle
30	chr2:36898200-36898600	Enhancers	NHDF-Ad	bronchial
31	chr2:36898200-36898600	Enhancers	NHLF	lung
32	chr2:36898600-36898800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:36898600-36899200	Enhancers	Brain Germinal Matrix	brain
34	chr2:36899200-36904600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:36900200-36900400	Enhancers	A549	lung
36	chr2:36901000-36901400	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:36901400-36904000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:36902800-36903000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:36903000-36903200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:36903000-36904600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:36903200-36903800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:36903200-36905200	Enhancers	Primary T cells from cord blood	blood
43	chr2:36903200-36905400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:36903400-36903800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:36903400-36904600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:36903400-36905200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:36903600-36904800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:36903800-36904000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:36903800-36904400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:36903800-36905000	Enhancers	HUES64 Cell Line	embryonic stem cell

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