Variant report

Variant	nsv520420
Chromosome Location	chr1:223682051-223693162
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223686710..223689558-chr1:223691137..223693488,3	K562	blood:
2	chr1:223682735..223685673-chr1:223687995..223689647,2	MCF-7	breast:
3	chr1:223686010..223688947-chr1:223690365..223692889,2	K562	blood:
4	chr1:223686010..223688947-chr1:223690365..223692889,2	K562	blood:
5	chr1:223686710..223689558-chr1:223691137..223693488,3	K562	blood:
6	chr1:223673872..223675904-chr1:223680727..223683330,2	K562	blood:
7	chr1:223680980..223683088-chr1:223683400..223685832,2	MCF-7	breast:
8	chr1:223682735..223685673-chr1:223687995..223689647,2	MCF-7	breast:
9	chr1:223678801..223680634-chr1:223687720..223690003,2	K562	blood:
10	chr1:223680980..223683088-chr1:223683400..223685832,2	MCF-7	breast:

No data

Extended variants
information (count: 456 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4325124	chr1:223682051-223682052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539699795	chr1:223682052-223682053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533438072	chr1:223682109-223682110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573182946	chr1:223682112-223682113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551563316	chr1:223682132-223682133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189295632	chr1:223682181-223682182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574015078	chr1:223682183-223682184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77016793	chr1:223682255-223682256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563426325	chr1:223682266-223682267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530873113	chr1:223682299-223682300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191470457	chr1:223682309-223682310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564103175	chr1:223682314-223682315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116587484	chr1:223682320-223682321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546252528	chr1:223682352-223682353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12403119	chr1:223682400-223682401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370976260	chr1:223682419-223682420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151239235	chr1:223682462-223682463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113734890	chr1:223682475-223682476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374209137	chr1:223682525-223682526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183563217	chr1:223682531-223682532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56409324	chr1:223682534-223682535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539784950	chr1:223682560-223682561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147102418	chr1:223682570-223682571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138539342	chr1:223682680-223682681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534213128	chr1:223682681-223682682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142666050	chr1:223682719-223682720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116245795	chr1:223682760-223682761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6670935	chr1:223682815-223682816	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs544714276	chr1:223682844-223682845	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs56083322	chr1:223682847-223682848	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34012240	chr1:223682853-223682854	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs181334096	chr1:223682929-223682930	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs186403032	chr1:223682944-223682945	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs540872651	chr1:223683063-223683064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564424707	chr1:223683073-223683074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528342384	chr1:223683093-223683094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540234393	chr1:223683128-223683129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138908262	chr1:223683149-223683150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189999331	chr1:223683196-223683197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550252120	chr1:223683221-223683222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569142962	chr1:223683282-223683283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533329164	chr1:223683377-223683378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373976449	chr1:223683413-223683414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551532880	chr1:223683441-223683442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558189364	chr1:223683444-223683445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181630414	chr1:223683478-223683479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117170683	chr1:223683484-223683485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555777997	chr1:223683489-223683490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186561703	chr1:223683491-223683492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567542182	chr1:223683516-223683517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223679000-223685200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:223681000-223682800	Enhancers	Fetal Brain Male	brain
3	chr1:223681800-223682200	Enhancers	Fetal Brain Female	brain
4	chr1:223682400-223683000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:223682800-223683000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
6	chr1:223682800-223683200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:223682800-223683400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:223683000-223683400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:223683200-223683800	Enhancers	Primary T cells from cord blood	blood
10	chr1:223683200-223686800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:223683400-223685800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:223683400-223686800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:223683800-223686400	Weak transcription	Primary T cells from cord blood	blood
14	chr1:223684200-223684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:223684600-223684800	Enhancers	Right Atrium	heart
16	chr1:223684800-223689000	Weak transcription	Right Atrium	heart
17	chr1:223685000-223685200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:223685000-223685200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:223685000-223685800	Enhancers	HMEC	breast
20	chr1:223685000-223686200	Enhancers	Placenta	Placenta
21	chr1:223685200-223686000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:223685200-223689000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:223685800-223689000	Weak transcription	HMEC	breast
24	chr1:223685800-223690400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:223685800-223690600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:223686000-223689200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:223686200-223691200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:223686400-223687800	Enhancers	Primary T cells from cord blood	blood
29	chr1:223686600-223686800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:223686600-223690400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:223686800-223687000	Enhancers	Stomach Mucosa	stomach
32	chr1:223686800-223687200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:223686800-223688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:223686800-223690400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:223686800-223690400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:223686800-223691200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:223687000-223687200	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr1:223687000-223690200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:223687000-223690400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:223687200-223687600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:223687200-223688200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:223687400-223689600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr1:223687400-223690000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:223687600-223689400	Bivalent Enhancer	Dnd41	blood
45	chr1:223687600-223690200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:223687800-223688000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:223687800-223688800	Enhancers	Fetal Thymus	thymus
48	chr1:223687800-223689200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr1:223687800-223689400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:223688200-223688600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links