Variant report

Variant	nsv1014480
Chromosome Location	chr1:210717288-210743026
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	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:
2	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:
3	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:
4	chr1:210741892..210744523-chr1:210745892..210748323,2	K562	blood:
5	chr1:210728277..210730776-chr1:210738043..210739547,2	K562	blood:
6	chr1:210728277..210730776-chr1:210738043..210739547,2	K562	blood:
7	chr1:210742495..210744523-chr1:210746149..210748323,2	K562	blood:
8	chr1:210739072..210739725-chr1:210757502..210758390,2	K562	blood:
9	chr1:210545788..210547730-chr1:210731704..210733690,2	K562	blood:
10	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 1074 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2069155	chr1:210717288-210717289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558534018	chr1:210717290-210717291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184278543	chr1:210717292-210717293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4845047	chr1:210717333-210717334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72749376	chr1:210717343-210717344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556863546	chr1:210717347-210717348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73079526	chr1:210717397-210717398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557151983	chr1:210717398-210717399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371925585	chr1:210717432-210717433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188439018	chr1:210717487-210717488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140814628	chr1:210717557-210717558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79694801	chr1:210717560-210717561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563915327	chr1:210717602-210717603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191770141	chr1:210717623-210717624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572982364	chr1:210717631-210717632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550881334	chr1:210717676-210717677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564895607	chr1:210717708-210717709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569514246	chr1:210717712-210717713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58952068	chr1:210717714-210717715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532661179	chr1:210717722-210717723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573290833	chr1:210717726-210717727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184276013	chr1:210717735-210717736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544920365	chr1:210717762-210717763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148470228	chr1:210717766-210717767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530363690	chr1:210717791-210717792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548265701	chr1:210717803-210717804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144002011	chr1:210717804-210717805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527803815	chr1:210717807-210717808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552120757	chr1:210717815-210717816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570862407	chr1:210717820-210717821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538535978	chr1:210717830-210717831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550899422	chr1:210717836-210717837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568950199	chr1:210717862-210717863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112520780	chr1:210717865-210717866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536412531	chr1:210717888-210717889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12139453	chr1:210717959-210717960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs140786238	chr1:210717960-210717961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575625087	chr1:210717970-210717971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549280213	chr1:210717971-210717972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576797376	chr1:210717994-210717995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546248664	chr1:210718045-210718046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17016393	chr1:210718087-210718088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188999367	chr1:210718099-210718100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541993950	chr1:210718121-210718122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560332371	chr1:210718133-210718134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181645010	chr1:210718193-210718194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185248287	chr1:210718241-210718242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190439700	chr1:210718243-210718244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560306938	chr1:210718244-210718245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531773013	chr1:210718298-210718299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210710800-210719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:210715400-210721000	Weak transcription	Ovary	ovary
5	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
6	chr1:210718800-210721400	Weak transcription	Right Ventricle	heart
7	chr1:210719000-210719400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:210719000-210721400	Weak transcription	Left Ventricle	heart
9	chr1:210719400-210722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:210719600-210720200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:210720000-210720200	Enhancers	Fetal Heart	heart
12	chr1:210720200-210720800	Weak transcription	Fetal Heart	heart
13	chr1:210720200-210722200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:210720800-210721000	Enhancers	Fetal Heart	heart
15	chr1:210721000-210721200	Enhancers	Ovary	ovary
16	chr1:210721000-210722200	Weak transcription	Fetal Heart	heart
17	chr1:210721400-210722000	Enhancers	Left Ventricle	heart
18	chr1:210721400-210722000	Enhancers	Right Ventricle	heart
19	chr1:210722000-210731800	Weak transcription	Right Ventricle	heart
20	chr1:210722200-210722400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:210722200-210722400	Enhancers	Fetal Heart	heart
22	chr1:210724400-210725400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:210724600-210729800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:210724800-210725600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:210725000-210725800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr1:210725400-210727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:210725600-210729600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:210727200-210727400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:210728000-210731200	Weak transcription	Gastric	stomach
30	chr1:210729000-210729200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:210729000-210729600	Enhancers	Brain Germinal Matrix	brain
32	chr1:210729200-210729800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:210729600-210730600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:210729800-210730000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:210729800-210730200	Enhancers	K562	blood
36	chr1:210729800-210730800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:210730000-210742400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:210730200-210730600	Weak transcription	K562	blood
39	chr1:210730600-210730800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:210730600-210730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:210730600-210732400	Enhancers	K562	blood
42	chr1:210730800-210731800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:210730800-210732000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:210730800-210732000	Enhancers	HSMMtube	muscle
45	chr1:210731000-210731200	Enhancers	HSMM	muscle
46	chr1:210731200-210732400	Enhancers	Gastric	stomach
47	chr1:210731400-210732200	Enhancers	Stomach Mucosa	stomach
48	chr1:210731400-210732400	Enhancers	Fetal Lung	lung
49	chr1:210731400-210733600	Enhancers	Fetal Heart	heart
50	chr1:210731600-210732000	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links