Variant report

Variant	nsv873153
Chromosome Location	chr1:210900481-210994339
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:5)
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	chr1:210972897..210975038-chr1:210985230..210987192,2	K562	blood:
2	chr1:210913946..210916328-chr1:210919386..210921041,2	MCF-7	breast:
3	chr1:210545831..210547443-chr1:210928453..210930887,2	K562	blood:
4	chr1:210972897..210975038-chr1:210985230..210987192,2	K562	blood:
5	chr1:210962591..210965046-chr1:210965364..210967328,3	K562	blood:
6	chr1:210962591..210965046-chr1:210965364..210967328,3	K562	blood:
7	chr1:210940736..210943130-chr1:210948114..210951071,2	K562	blood:
8	chr1:210913946..210916328-chr1:210919386..210921041,2	MCF-7	breast:
9	chr1:210940736..210943130-chr1:210948114..210951071,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HHAT-3	chr1:210907621-210907713	l_180_chr1:210907620-210915204_testes
2	lnc-C1orf133-5	chr1:210904552-210904652	NONHSAT009271
3	lnc-C1orf133-5	chr1:210905301-210905399	NONHSAT009271
4	lnc-HHAT-3	chr1:210914829-210915204	l_180_chr1:210907620-210915204_testes
5	lnc-HHAT-3	chr1:210913925-210914015	l_180_chr1:210907620-210915204_testes

No data

Extended variants
information (count: 3319 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3319 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1934623	chr1:210900481-210900482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191136402	chr1:210900519-210900520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569551689	chr1:210900551-210900552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536981150	chr1:210900609-210900610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148950205	chr1:210900653-210900654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574545503	chr1:210900721-210900722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143564756	chr1:210900788-210900789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573524097	chr1:210900860-210900861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576776081	chr1:210900865-210900866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140263977	chr1:210900930-210900931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540820354	chr1:210900973-210900974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34242970	chr1:210900982-210900983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397862504	chr1:210900986-210900987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202203625	chr1:210900987-210900988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183742089	chr1:210900999-210901000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188460417	chr1:210901014-210901015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577222216	chr1:210901015-210901016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34579424	chr1:210901033-210901034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547105971	chr1:210901042-210901043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148032737	chr1:210901052-210901053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562703557	chr1:210901078-210901079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545785322	chr1:210901150-210901151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386639029	chr1:210901180-210901181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17016775	chr1:210901181-210901182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs141808436	chr1:210901196-210901197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528281715	chr1:210901197-210901198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185128227	chr1:210901221-210901222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115611420	chr1:210901241-210901242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1934624	chr1:210901242-210901243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561849221	chr1:210901313-210901314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114901102	chr1:210901331-210901332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548939772	chr1:210901372-210901373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146017426	chr1:210901373-210901374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190061246	chr1:210901397-210901398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558854678	chr1:210901435-210901436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138529249	chr1:210901436-210901437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116643352	chr1:210901451-210901452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1953951	chr1:210901459-210901460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs574535801	chr1:210901474-210901475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541783717	chr1:210901483-210901484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34042808	chr1:210901527-210901528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560855521	chr1:210901625-210901626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141500966	chr1:210901627-210901628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371427922	chr1:210901655-210901656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1953952	chr1:210901665-210901666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1953953	chr1:210901666-210901667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146218287	chr1:210901692-210901693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564968366	chr1:210901703-210901704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532314172	chr1:210901707-210901708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181813359	chr1:210901732-210901733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210881800-210901200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:210889200-210903200	Weak transcription	HSMMtube	muscle
4	chr1:210899800-210902400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:210900000-210901000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:210900400-210902600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:210901000-210901600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:210901200-210901800	Enhancers	Brain Substantia Nigra	brain
9	chr1:210901200-210902400	Enhancers	Brain Angular Gyrus	brain
10	chr1:210901600-210908200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:210902000-210903000	Enhancers	Liver	Liver
12	chr1:210902400-210907600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:210902600-210903000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:210903000-210903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:210903200-210903800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:210903200-210903800	Enhancers	HSMMtube	muscle
17	chr1:210903400-210903800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:210903400-210903800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:210903400-210903800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:210903400-210903800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:210903400-210904000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:210903800-210919200	Weak transcription	HSMMtube	muscle
23	chr1:210904200-210905400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:210905600-210921200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:210907600-210908800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:210908200-210908800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:210908800-210910200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:210910000-210910600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:210910200-210910600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:210910200-210910600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:210910400-210910600	Enhancers	Brain Angular Gyrus	brain
32	chr1:210910600-210921200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:210911600-210912200	Enhancers	Liver	Liver
34	chr1:210912600-210913000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:210917200-210917400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:210917400-210930800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:210919200-210920200	Enhancers	HSMMtube	muscle
38	chr1:210919400-210919600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:210919400-210919800	Enhancers	A549	lung
40	chr1:210919600-210919800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:210919600-210921000	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:210919800-210928600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:210920200-210920400	Weak transcription	HSMMtube	muscle
44	chr1:210920400-210920800	Enhancers	HSMMtube	muscle
45	chr1:210920600-210920800	Enhancers	Esophagus	oesophagus
46	chr1:210920600-210921000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:210920800-210923400	Weak transcription	HSMMtube	muscle
48	chr1:210920800-210928200	Weak transcription	Esophagus	oesophagus
49	chr1:210921000-210921400	Enhancers	Brain Hippocampus Middle	brain
50	chr1:210921200-210921600	Enhancers	Brain Inferior Temporal Lobe	brain

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