Variant report

Variant	nsv593081
Chromosome Location	chr3:196058795-196062518
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196057685..196059203-chr3:196062080..196064140,2	MCF-7	breast:
2	chr3:196014212..196016306-chr3:196062015..196064940,3	MCF-7	breast:
3	chr3:196057685..196059203-chr3:196062080..196064140,2	MCF-7	breast:
4	chr3:196043597..196046330-chr3:196059490..196061514,2	K562	blood:
5	chr3:196043015..196046706-chr3:196061951..196066451,7	K562	blood:
6	chr3:196062380..196065036-chr3:196160453..196162910,2	MCF-7	breast:
7	chr3:196044943..196046563-chr3:196056014..196058811,2	MCF-7	breast:
8	chr3:196013231..196016156-chr3:196060060..196062117,2	MCF-7	breast:
9	chr3:196043597..196046565-chr3:196058227..196060990,3	K562	blood:
10	chr3:196043015..196047197-chr3:196061951..196068288,11	K562	blood:
11	chr3:196012576..196016636-chr3:196061383..196069148,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213123	chromatin interactions
ENSG00000235897	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000272741	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs12497601	chr3:196058795-196058796	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555622100	chr3:196058817-196058818	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs551605786	chr3:196058835-196058836	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs386670162	chr3:196058863-196058864	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs73212183	chr3:196058864-196058865	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs73212184	chr3:196058920-196058921	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs562636577	chr3:196058927-196058928	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs566535672	chr3:196058939-196058940	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs12496368	chr3:196058968-196058969	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs528624968	chr3:196058969-196058970	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs546673487	chr3:196059035-196059036	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs370883634	chr3:196059084-196059085	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs533041146	chr3:196059091-196059092	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs551278877	chr3:196059103-196059104	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs569486820	chr3:196059120-196059121	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536857259	chr3:196059125-196059126	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs55673262	chr3:196059139-196059140	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs369834525	chr3:196059159-196059160	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs376375633	chr3:196059299-196059300	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs534764195	chr3:196059313-196059314	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs140965251	chr3:196059327-196059328	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs200124575	chr3:196059365-196059366	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs201519946	chr3:196059370-196059371	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs564720419	chr3:196059377-196059378	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs527675901	chr3:196059379-196059380	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs557687569	chr3:196059381-196059382	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs575864429	chr3:196059439-196059440	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs189212043	chr3:196059455-196059456	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs66744350	chr3:196059466-196059467	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374282556	chr3:196059483-196059484	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs145852836	chr3:196059484-196059485	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576695362	chr3:196059502-196059503	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531851018	chr3:196059565-196059566	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs577067906	chr3:196059576-196059577	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs150352789	chr3:196059590-196059591	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs550071888	chr3:196059615-196059616	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs571461516	chr3:196059631-196059632	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs193067716	chr3:196059698-196059699	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs544134464	chr3:196059719-196059720	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs184600443	chr3:196059747-196059748	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532645479	chr3:196059749-196059750	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs570744569	chr3:196059791-196059792	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs532392912	chr3:196059821-196059822	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs551215614	chr3:196059846-196059847	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs57703189	chr3:196059856-196059857	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs563251900	chr3:196059859-196059860	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs73212186	chr3:196059861-196059862	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188249884	chr3:196059877-196059878	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs180729178	chr3:196059919-196059920	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs528161021	chr3:196059955-196059956	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196047600-196063600	Weak transcription	NHEK	skin
2	chr3:196051400-196063600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:196052000-196062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:196054600-196061800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:196054800-196060800	Weak transcription	K562	blood
7	chr3:196054800-196064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:196057800-196062600	Weak transcription	Hela-S3	cervix
9	chr3:196059800-196060000	Enhancers	Esophagus	oesophagus
10	chr3:196060200-196062600	Weak transcription	Esophagus	oesophagus
11	chr3:196060800-196061000	Enhancers	K562	blood
12	chr3:196061000-196061200	Genic enhancers	K562	blood
13	chr3:196061200-196062400	Weak transcription	K562	blood
14	chr3:196061800-196063000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:196062400-196062800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:196062400-196063000	Active TSS	HepG2	liver
17	chr3:196062400-196063200	Enhancers	K562	blood
18	chr3:196062400-196063400	Enhancers	HMEC	breast

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