Variant report

Variant	nsv10212
Chromosome Location	chr2:205343655-205349471
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:205317294..205319471-chr2:205340816..205343787,2	K562	blood:
2	chr2:205341764..205344115-chr2:205410157..205412057,2	MCF-7	breast:
3	chr2:205345447..205347577-chr2:205349288..205350850,2	K562	blood:
4	chr2:205345447..205347577-chr2:205349288..205350850,2	K562	blood:
5	chr2:205347876..205350145-chr2:205365321..205368902,4	K562	blood:
6	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:
7	chr2:205347876..205349851-chr2:205365321..205368563,3	K562	blood:
8	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116117	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533036024	chr2:205343698-205343699	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552827710	chr2:205343730-205343731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182625122	chr2:205343778-205343779	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142340913	chr2:205343800-205343801	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186895522	chr2:205343890-205343891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568734970	chr2:205343958-205343959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535523124	chr2:205344007-205344008	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192149340	chr2:205344009-205344010	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572477583	chr2:205344044-205344045	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs151284865	chr2:205344070-205344071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140529168	chr2:205344157-205344158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145799008	chr2:205344187-205344188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371949506	chr2:205344203-205344204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550180927	chr2:205344204-205344205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543207799	chr2:205344214-205344215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185109300	chr2:205344215-205344216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60341493	chr2:205344222-205344223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531427615	chr2:205344250-205344251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78587030	chr2:205344253-205344254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559274550	chr2:205344261-205344262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533075403	chr2:205344317-205344318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551457283	chr2:205344323-205344324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564674698	chr2:205344329-205344330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73055230	chr2:205344355-205344356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550341498	chr2:205344374-205344375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568697001	chr2:205344397-205344398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536128172	chr2:205344415-205344416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377032345	chr2:205344465-205344466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369598743	chr2:205344483-205344484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547488245	chr2:205344486-205344487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566021405	chr2:205344491-205344492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561646680	chr2:205344519-205344520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138461780	chr2:205344522-205344523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111389442	chr2:205344549-205344550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576118593	chr2:205344571-205344572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368895216	chr2:205344575-205344576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188774691	chr2:205344577-205344578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573874305	chr2:205344602-205344603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193296673	chr2:205344631-205344632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141441081	chr2:205344652-205344653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34021087	chr2:205344681-205344682	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs16824671	chr2:205344693-205344694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs563416249	chr2:205344704-205344705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530608030	chr2:205344806-205344807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534937519	chr2:205344822-205344823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115254051	chr2:205344825-205344826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375448511	chr2:205344830-205344831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145179404	chr2:205344851-205344852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368966636	chr2:205344857-205344858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116138204	chr2:205344939-205344940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205337400-205344000	Weak transcription	K562	blood
2	chr2:205338200-205350400	Weak transcription	NHLF	lung
3	chr2:205340600-205344000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:205341400-205345200	Weak transcription	Fetal Kidney	kidney
5	chr2:205341400-205345800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:205341400-205348400	Weak transcription	HSMMtube	muscle
7	chr2:205341600-205344200	Weak transcription	Osteobl	bone
8	chr2:205341600-205351400	Weak transcription	Aorta	Aorta
9	chr2:205342400-205344400	Weak transcription	NHDF-Ad	bronchial
10	chr2:205342400-205344600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:205342600-205343800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:205342600-205345400	Enhancers	NHEK	skin
13	chr2:205342800-205344200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:205343400-205344600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:205343600-205344600	Enhancers	Fetal Thymus	thymus
16	chr2:205343800-205344800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:205343800-205344800	Enhancers	HUVEC	blood vessel
18	chr2:205344000-205344400	Enhancers	Lung	lung
19	chr2:205344000-205344600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:205344000-205344600	Enhancers	NH-A	brain
21	chr2:205344000-205345400	Enhancers	K562	blood
22	chr2:205344200-205344600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:205344200-205344600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:205344200-205344600	Enhancers	Osteobl	bone
25	chr2:205344200-205344800	Enhancers	HSMM	muscle
26	chr2:205344200-205345000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:205344600-205348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:205344800-205348600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:205345200-205345400	Enhancers	Fetal Kidney	kidney
30	chr2:205345400-205345800	Weak transcription	Fetal Kidney	kidney
31	chr2:205345400-205348200	Weak transcription	K562	blood
32	chr2:205345400-205348600	Weak transcription	NHEK	skin
33	chr2:205345600-205345800	Enhancers	Fetal Intestine Large	intestine
34	chr2:205345800-205346000	Enhancers	Fetal Intestine Small	intestine
35	chr2:205345800-205346000	Enhancers	Fetal Kidney	kidney
36	chr2:205345800-205348200	Weak transcription	Fetal Intestine Large	intestine
37	chr2:205345800-205349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:205346000-205347400	Weak transcription	Fetal Intestine Small	intestine
39	chr2:205346000-205348200	Weak transcription	Fetal Kidney	kidney
40	chr2:205347400-205348800	Enhancers	Fetal Intestine Small	intestine
41	chr2:205348000-205348800	Enhancers	HepG2	liver
42	chr2:205348200-205348600	Enhancers	Brain Germinal Matrix	brain
43	chr2:205348200-205348800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:205348200-205349000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:205348200-205349000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:205348200-205349000	Enhancers	Fetal Intestine Large	intestine
47	chr2:205348200-205349000	Enhancers	Fetal Kidney	kidney
48	chr2:205348200-205349000	Enhancers	K562	blood
49	chr2:205348400-205348600	Enhancers	Fetal Brain Female	brain
50	chr2:205348400-205348800	Enhancers	Small Intestine	intestine

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