Variant report

Variant	nsv999018
Chromosome Location	chr1:210907239-210999306
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:3)
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	chr1:210940736..210943130-chr1:210948114..210951071,2	K562	blood:
2	chr1:210913946..210916328-chr1:210919386..210921041,2	MCF-7	breast:
3	chr1:210940736..210943130-chr1:210948114..210951071,2	K562	blood:
4	chr1:210962591..210965046-chr1:210965364..210967328,3	K562	blood:
5	chr1:210972897..210975038-chr1:210985230..210987192,2	K562	blood:
6	chr1:210962591..210965046-chr1:210965364..210967328,3	K562	blood:
7	chr1:210972897..210975038-chr1:210985230..210987192,2	K562	blood:
8	chr1:210545831..210547443-chr1:210928453..210930887,2	K562	blood:
9	chr1:210913946..210916328-chr1:210919386..210921041,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HHAT-3	chr1:210913925-210914015	l_180_chr1:210907620-210915204_testes
2	lnc-HHAT-3	chr1:210907621-210907713	l_180_chr1:210907620-210915204_testes
3	lnc-HHAT-3	chr1:210914829-210915204	l_180_chr1:210907620-210915204_testes

No data

Extended variants
information (count: 3261 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3261 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1890844	chr1:210907239-210907240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554177339	chr1:210907243-210907244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5780602	chr1:210907289-210907290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201104597	chr1:210907290-210907291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34074937	chr1:210907291-210907292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142236390	chr1:210907292-210907293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59732140	chr1:210907331-210907332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563233138	chr1:210907449-210907450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113340876	chr1:210907452-210907453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1890845	chr1:210907463-210907464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs144816271	chr1:210907466-210907467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528139180	chr1:210907496-210907497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566604318	chr1:210907591-210907592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535750463	chr1:210907611-210907612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115014501	chr1:210907626-210907627	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs540058760	chr1:210907669-210907670	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs185283547	chr1:210907673-210907674	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs538622855	chr1:210907767-210907768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574892710	chr1:210907769-210907770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551308137	chr1:210907820-210907821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189464630	chr1:210907871-210907872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537479127	chr1:210907887-210907888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557418682	chr1:210907907-210907908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536859998	chr1:210907910-210907911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140456073	chr1:210907923-210907924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555167420	chr1:210907930-210907931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573370987	chr1:210907946-210907947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61829484	chr1:210907966-210907967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559005199	chr1:210908084-210908085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577208209	chr1:210908120-210908121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577044525	chr1:210908122-210908123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182062813	chr1:210908130-210908131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563242825	chr1:210908152-210908153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540441260	chr1:210908153-210908154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575165504	chr1:210908161-210908162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12354080	chr1:210908164-210908165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186471997	chr1:210908177-210908178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528288160	chr1:210908183-210908184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543857714	chr1:210908250-210908251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546419996	chr1:210908305-210908306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564955130	chr1:210908326-210908327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188111261	chr1:210908364-210908365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371254388	chr1:210908403-210908404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550568077	chr1:210908440-210908441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574209513	chr1:210908447-210908448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376272229	chr1:210908464-210908465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569587829	chr1:210908477-210908478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536981198	chr1:210908525-210908526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543295692	chr1:210908533-210908534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574565837	chr1:210908545-210908546	Enhancers Weak transcription	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:327 , 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	chr1:210901600-210908200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:210902400-210907600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:210903800-210919200	Weak transcription	HSMMtube	muscle
5	chr1:210905600-210921200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:210907600-210908800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:210908200-210908800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:210908800-210910200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:210910000-210910600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:210910200-210910600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:210910200-210910600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:210910400-210910600	Enhancers	Brain Angular Gyrus	brain
13	chr1:210910600-210921200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:210911600-210912200	Enhancers	Liver	Liver
15	chr1:210912600-210913000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:210917200-210917400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:210917400-210930800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:210919200-210920200	Enhancers	HSMMtube	muscle
19	chr1:210919400-210919600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:210919400-210919800	Enhancers	A549	lung
21	chr1:210919600-210919800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:210919600-210921000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:210919800-210928600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:210920200-210920400	Weak transcription	HSMMtube	muscle
25	chr1:210920400-210920800	Enhancers	HSMMtube	muscle
26	chr1:210920600-210920800	Enhancers	Esophagus	oesophagus
27	chr1:210920600-210921000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:210920800-210923400	Weak transcription	HSMMtube	muscle
29	chr1:210920800-210928200	Weak transcription	Esophagus	oesophagus
30	chr1:210921000-210921400	Enhancers	Brain Hippocampus Middle	brain
31	chr1:210921200-210921600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:210921200-210922200	Enhancers	Brain Angular Gyrus	brain
33	chr1:210921400-210921600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:210921400-210921800	Enhancers	Brain Substantia Nigra	brain
35	chr1:210921600-210931400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:210923400-210923800	Enhancers	HSMMtube	muscle
37	chr1:210923800-210928600	Weak transcription	HSMMtube	muscle
38	chr1:210924400-210924600	Enhancers	Brain Anterior Caudate	brain
39	chr1:210924600-210928200	Weak transcription	Brain Anterior Caudate	brain
40	chr1:210924800-210925000	Enhancers	Placenta	Placenta
41	chr1:210924800-210925400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:210925200-210926000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:210925400-210928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:210925600-210925800	Enhancers	Placenta	Placenta
45	chr1:210926000-210928600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:210926600-210928400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:210926600-210928400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:210927800-210930000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:210928000-210930200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:210928200-210928600	Enhancers	HUES48 Cell Line	embryonic stem cell

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