Variant report

Variant	nsv963955
Chromosome Location	chr2:205347924-205351240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:
2	chr2:205345447..205347577-chr2:205349288..205350850,2	K562	blood:
3	chr2:205347876..205350145-chr2:205365321..205368902,4	K562	blood:
4	chr2:205347876..205349851-chr2:205365321..205368563,3	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536958238	chr2:205347948-205347949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77705886	chr2:205347951-205347952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549471657	chr2:205347954-205347955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140543969	chr2:205347956-205347957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540657249	chr2:205348007-205348008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6435242	chr2:205348018-205348019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs76174049	chr2:205348043-205348044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544338954	chr2:205348044-205348045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142869649	chr2:205348049-205348050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77620483	chr2:205348059-205348060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541998815	chr2:205348060-205348061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560223490	chr2:205348061-205348062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7575264	chr2:205348072-205348073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7562862	chr2:205348096-205348097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527561089	chr2:205348099-205348100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1447487	chr2:205348102-205348103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114294602	chr2:205348165-205348166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531318094	chr2:205348185-205348186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7575386	chr2:205348189-205348190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150810701	chr2:205348204-205348205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7602043	chr2:205348234-205348235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568134951	chr2:205348265-205348266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115208109	chr2:205348276-205348277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566292290	chr2:205348290-205348291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555121485	chr2:205348297-205348298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72926244	chr2:205348307-205348308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189913723	chr2:205348338-205348339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182975717	chr2:205348384-205348385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112745271	chr2:205348420-205348421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568235208	chr2:205348496-205348497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188805438	chr2:205348497-205348498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544590977	chr2:205348499-205348500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35251633	chr2:205348515-205348516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1447486	chr2:205348555-205348556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs192864249	chr2:205348581-205348582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535958459	chr2:205348614-205348615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559888512	chr2:205348636-205348637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527598734	chr2:205348640-205348641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574772051	chr2:205348667-205348668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563744500	chr2:205348680-205348681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531258904	chr2:205348685-205348686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139687491	chr2:205348690-205348691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149774025	chr2:205348691-205348692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12373801	chr2:205348724-205348725	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs184150023	chr2:205348736-205348737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548511096	chr2:205348754-205348755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376925895	chr2:205348767-205348768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559278486	chr2:205348840-205348841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116285445	chr2:205348870-205348871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62179342	chr2:205348872-205348873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205338200-205350400	Weak transcription	NHLF	lung
2	chr2:205341400-205348400	Weak transcription	HSMMtube	muscle
3	chr2:205341600-205351400	Weak transcription	Aorta	Aorta
4	chr2:205344600-205348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:205344800-205348600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:205345400-205348200	Weak transcription	K562	blood
7	chr2:205345400-205348600	Weak transcription	NHEK	skin
8	chr2:205345800-205348200	Weak transcription	Fetal Intestine Large	intestine
9	chr2:205345800-205349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:205346000-205348200	Weak transcription	Fetal Kidney	kidney
11	chr2:205347400-205348800	Enhancers	Fetal Intestine Small	intestine
12	chr2:205348000-205348800	Enhancers	HepG2	liver
13	chr2:205348200-205348600	Enhancers	Brain Germinal Matrix	brain
14	chr2:205348200-205348800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:205348200-205349000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:205348200-205349000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:205348200-205349000	Enhancers	Fetal Intestine Large	intestine
18	chr2:205348200-205349000	Enhancers	Fetal Kidney	kidney
19	chr2:205348200-205349000	Enhancers	K562	blood
20	chr2:205348400-205348600	Enhancers	Fetal Brain Female	brain
21	chr2:205348400-205348800	Enhancers	Small Intestine	intestine
22	chr2:205348400-205348800	Enhancers	HSMMtube	muscle
23	chr2:205348400-205349000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:205348400-205349000	Enhancers	Liver	Liver
25	chr2:205348400-205349000	Enhancers	Esophagus	oesophagus
26	chr2:205348400-205349000	Enhancers	Pancreas	Pancrea
27	chr2:205348400-205349200	Enhancers	Gastric	stomach
28	chr2:205348400-205351800	Enhancers	Fetal Muscle Leg	muscle
29	chr2:205348400-205352600	Enhancers	Fetal Brain Male	brain
30	chr2:205348600-205349000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:205348600-205349000	Enhancers	Fetal Lung	lung
32	chr2:205348600-205349000	Enhancers	NHEK	skin
33	chr2:205348600-205349200	Enhancers	Fetal Heart	heart
34	chr2:205348800-205350200	Weak transcription	Fetal Brain Female	brain
35	chr2:205348800-205351600	Weak transcription	Fetal Intestine Small	intestine
36	chr2:205348800-205351600	Weak transcription	HSMMtube	muscle
37	chr2:205348800-205352400	Weak transcription	HepG2	liver
38	chr2:205349000-205350400	Weak transcription	NHEK	skin
39	chr2:205349000-205350800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:205349000-205351400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:205349000-205351400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:205349000-205351400	Weak transcription	Fetal Lung	lung
43	chr2:205349000-205351600	Weak transcription	Fetal Kidney	kidney
44	chr2:205349800-205353000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:205350200-205351400	Enhancers	Fetal Brain Female	brain
46	chr2:205350200-205351600	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:205350400-205350600	Enhancers	NHLF	lung
48	chr2:205350400-205352600	Enhancers	NHEK	skin
49	chr2:205350600-205351000	Weak transcription	NHLF	lung
50	chr2:205350800-205351000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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