Variant report

Variant	nsv960975
Chromosome Location	chr2:98562321-98567447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98541538..98543544-chr2:98565901..98567946,2	MCF-7	breast:
2	chr2:98560562..98563114-chr2:98618260..98620313,2	K562	blood:
3	chr2:98560596..98562974-chr2:98563175..98565676,2	MCF-7	breast:
4	chr2:98561365..98564019-chr2:98567762..98570732,2	K562	blood:
5	chr2:98560596..98562974-chr2:98563175..98565676,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VWA3B-3	chr2:98565165-98565970	expReg_chr2_7491_+

Extended variants
information (count: 167 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10193194	chr2:98562558-98562559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530160076	chr2:98562572-98562573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546670474	chr2:98562575-98562576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542450454	chr2:98562577-98562578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10432617	chr2:98562617-98562618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528272791	chr2:98562638-98562639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3064035	chr2:98562643-98562644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35354387	chr2:98562646-98562647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35987886	chr2:98562649-98562650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551658849	chr2:98562655-98562656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375867017	chr2:98562674-98562675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571413437	chr2:98562802-98562803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537059655	chr2:98562920-98562921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550567967	chr2:98562959-98562960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377639926	chr2:98563076-98563077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536388782	chr2:98563102-98563103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73960433	chr2:98563146-98563147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573387589	chr2:98563181-98563182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545567825	chr2:98563268-98563269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185526909	chr2:98563350-98563351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148031220	chr2:98563388-98563389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142345931	chr2:98563398-98563399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575501673	chr2:98563410-98563411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544479763	chr2:98563423-98563424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560978504	chr2:98563475-98563476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13003978	chr2:98563485-98563486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs145950822	chr2:98563542-98563543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560340239	chr2:98563557-98563558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528300549	chr2:98563566-98563567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4851662	chr2:98563658-98563659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565199914	chr2:98563704-98563705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190290453	chr2:98563705-98563706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201292260	chr2:98563719-98563720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550880196	chr2:98563881-98563882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567316591	chr2:98563882-98563883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536205653	chr2:98563889-98563890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546684124	chr2:98563977-98563978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529108035	chr2:98564006-98564007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547237107	chr2:98564035-98564036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117405121	chr2:98564099-98564100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539240540	chr2:98564110-98564111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13022778	chr2:98564166-98564167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs534336502	chr2:98564197-98564198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373509345	chr2:98564228-98564229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182148610	chr2:98564242-98564243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538185746	chr2:98564303-98564304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554842120	chr2:98564346-98564347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73960434	chr2:98564349-98564350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552369241	chr2:98564389-98564390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187675398	chr2:98564443-98564444	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98553200-98565800	Weak transcription	Small Intestine	intestine
2	chr2:98553800-98562400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:98553800-98565800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:98554000-98565800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:98554000-98570200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:98554200-98563000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:98554400-98565400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:98559800-98567800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:98560200-98566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:98561200-98562400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:98561400-98566800	Weak transcription	HSMMtube	muscle
12	chr2:98561600-98562400	Enhancers	Stomach Mucosa	stomach
13	chr2:98561600-98562600	Enhancers	Fetal Lung	lung
14	chr2:98561600-98562600	Enhancers	NHDF-Ad	bronchial
15	chr2:98561800-98562400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:98561800-98562400	Weak transcription	Right Ventricle	heart
17	chr2:98561800-98562600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:98561800-98562600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:98561800-98562600	Enhancers	Fetal Heart	heart
20	chr2:98561800-98563000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:98561800-98564200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:98561800-98564400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:98561800-98565800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:98561800-98566800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:98561800-98570200	Weak transcription	Primary T cells from cord blood	blood
26	chr2:98562000-98562600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:98562000-98562600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:98562000-98562600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:98562000-98562600	Enhancers	Fetal Intestine Large	intestine
30	chr2:98562000-98562600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:98562000-98567400	Weak transcription	Brain Substantia Nigra	brain
32	chr2:98562200-98562600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:98562200-98562600	Enhancers	Liver	Liver
34	chr2:98562200-98562600	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:98562200-98562600	Enhancers	HMEC	breast
36	chr2:98562200-98562600	Enhancers	NHEK	skin
37	chr2:98562200-98562600	Enhancers	Osteobl	bone
38	chr2:98562200-98566200	Weak transcription	HSMM	muscle
39	chr2:98562200-98570400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:98562400-98562600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:98562400-98562600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:98562400-98562600	Enhancers	Fetal Intestine Small	intestine
43	chr2:98562400-98562600	Enhancers	Right Ventricle	heart
44	chr2:98562400-98563000	Weak transcription	Stomach Mucosa	stomach
45	chr2:98562400-98563000	Enhancers	NHLF	lung
46	chr2:98562400-98563400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:98562400-98563600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:98562400-98569200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:98562600-98564200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:98562600-98565400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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