Variant report

Variant	nsv875726
Chromosome Location	chr2:205588773-205700834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:
2	chr2:205650211..205653326-chr2:205654047..205656174,3	K562	blood:
3	chr2:205591038..205592636-chr2:205700009..205701787,2	MCF-7	breast:
4	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:
5	chr2:205663276..205663797-chr3:140910816..140911375,4	K562	blood:
6	chr2:205650211..205653326-chr2:205654047..205656174,3	K562	blood:
7	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:
8	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:
9	chr2:205591038..205592636-chr2:205700009..205701787,2	MCF-7	breast:

No data

Extended variants
information (count: 3876 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3876 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12468818	chr2:205588773-205588774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559573871	chr2:205588775-205588776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533371596	chr2:205588787-205588788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189548132	chr2:205588869-205588870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370630376	chr2:205588886-205588887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546138104	chr2:205588897-205588898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571017038	chr2:205588898-205588899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76027647	chr2:205588907-205588908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546068785	chr2:205588909-205588910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35179164	chr2:205588930-205588931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143436540	chr2:205588932-205588933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10932083	chr2:205589077-205589078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372334341	chr2:205589121-205589122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181819700	chr2:205589126-205589127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374342848	chr2:205589155-205589156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534711839	chr2:205589218-205589219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183830382	chr2:205589232-205589233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578177655	chr2:205589262-205589263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188103535	chr2:205589277-205589278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386654352	chr2:205589304-205589305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10432519	chr2:205589306-205589307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74676648	chr2:205589322-205589323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62177806	chr2:205589347-205589348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116247888	chr2:205589362-205589363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561025381	chr2:205589419-205589420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534284492	chr2:205589420-205589421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77673748	chr2:205589447-205589448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573050689	chr2:205589458-205589459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539880636	chr2:205589478-205589479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564538735	chr2:205589537-205589538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180850625	chr2:205589552-205589553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80345797	chr2:205589572-205589573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550572269	chr2:205589577-205589578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139627270	chr2:205589581-205589582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550248049	chr2:205589589-205589590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376362972	chr2:205589621-205589622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571530800	chr2:205589630-205589631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75514979	chr2:205589711-205589712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538917275	chr2:205589824-205589825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557218335	chr2:205589877-205589878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531034640	chr2:205589948-205589949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549509229	chr2:205589988-205589989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575342883	chr2:205590042-205590043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535327540	chr2:205590043-205590044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547044633	chr2:205590047-205590048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78025518	chr2:205590133-205590134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77049977	chr2:205590137-205590138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191126755	chr2:205590173-205590174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182105121	chr2:205590335-205590336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185767517	chr2:205590338-205590339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
2	chr2:205572000-205592200	Weak transcription	Pancreas	Pancrea
3	chr2:205572200-205590600	Weak transcription	Left Ventricle	heart
4	chr2:205572200-205596600	Weak transcription	HSMM	muscle
5	chr2:205572200-205597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:205579600-205591400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:205580800-205595400	Weak transcription	Fetal Lung	lung
8	chr2:205582800-205592200	Weak transcription	Psoas Muscle	Psoas
9	chr2:205587600-205591000	Weak transcription	HSMMtube	muscle
10	chr2:205587600-205596600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:205589200-205589400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:205589400-205590400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:205589800-205591600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:205590000-205592800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:205590200-205592600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:205590400-205591000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:205590400-205591400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:205590600-205590800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:205590600-205590800	Enhancers	Left Ventricle	heart
20	chr2:205590600-205591000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:205590600-205591600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:205590800-205591200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:205591000-205592000	Enhancers	HSMMtube	muscle
24	chr2:205591000-205592200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:205591000-205592400	Enhancers	Fetal Intestine Small	intestine
26	chr2:205591000-205592600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:205591200-205593800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:205591400-205592000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:205591400-205592000	Enhancers	Fetal Intestine Large	intestine
30	chr2:205591400-205592400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:205591400-205592400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:205591400-205592400	Enhancers	Stomach Mucosa	stomach
33	chr2:205591600-205592000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:205591600-205592800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:205591600-205593800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:205591800-205592600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:205592000-205592400	Weak transcription	HSMMtube	muscle
38	chr2:205592000-205593200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:205592200-205592400	Enhancers	Pancreas	Pancrea
40	chr2:205592200-205592400	Enhancers	Psoas Muscle	Psoas
41	chr2:205592200-205592800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:205592200-205592800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:205592400-205592600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:205592400-205592600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:205592400-205592600	Enhancers	Ovary	ovary
46	chr2:205592400-205592600	Weak transcription	Pancreas	Pancrea
47	chr2:205592400-205592600	Enhancers	HSMMtube	muscle
48	chr2:205592400-205596600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:205592600-205592800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:205592600-205593600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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