Variant report

Variant	nsv549106
Chromosome Location	chr1:210698719-210736508
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:2)
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	chr1:210728277..210730776-chr1:210738043..210739547,2	K562	blood:
2	chr1:210701301..210703665-chr1:210706894..210708903,2	MCF-7	breast:
3	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:
4	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:
5	chr1:210545788..210547730-chr1:210731704..210733690,2	K562	blood:
6	chr1:210542669..210544192-chr1:210705476..210708034,2	MCF-7	breast:
7	chr1:210701301..210703665-chr1:210706894..210708903,2	MCF-7	breast:
8	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:
9	chr1:210679010..210681998-chr1:210700828..210702736,2	K562	blood:
10	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:
11	chr1:210547452..210548994-chr1:210700269..210703169,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-5	chr1:210707632-210707708	NONHSAT009268
2	lnc-KCNH1-5	chr1:210706781-210707062	NONHSAT009268

No data

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 1712 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1712 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11119526	chr1:210698719-210698720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557812985	chr1:210698758-210698759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538530977	chr1:210698802-210698803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6688831	chr1:210698813-210698814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6688862	chr1:210698892-210698893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554915892	chr1:210698925-210698926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573309402	chr1:210698934-210698935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182721498	chr1:210698935-210698936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559666367	chr1:210698940-210698941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187403022	chr1:210698942-210698943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545304703	chr1:210698954-210698955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563920475	chr1:210698977-210698978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12402332	chr1:210699024-210699025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549500745	chr1:210699027-210699028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567625060	chr1:210699057-210699058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6701536	chr1:210699091-210699092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570148391	chr1:210699098-210699099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193241487	chr1:210699109-210699110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573805874	chr1:210699110-210699111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148077683	chr1:210699130-210699131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185728686	chr1:210699147-210699148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140927348	chr1:210699161-210699162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145068016	chr1:210699235-210699236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377606993	chr1:210699242-210699243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138863805	chr1:210699251-210699252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561540660	chr1:210699255-210699256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77525078	chr1:210699270-210699271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141787780	chr1:210699293-210699294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146230710	chr1:210699301-210699302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578162043	chr1:210699302-210699303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11583907	chr1:210699305-210699306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs189361110	chr1:210699311-210699312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192448326	chr1:210699339-210699340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6691759	chr1:210699389-210699390	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561415233	chr1:210699402-210699403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528473148	chr1:210699449-210699450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564249064	chr1:210699463-210699464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547051041	chr1:210699480-210699481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184544438	chr1:210699518-210699519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371058297	chr1:210699519-210699520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533052574	chr1:210699534-210699535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75847993	chr1:210699567-210699568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569739518	chr1:210699592-210699593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536891096	chr1:210699622-210699623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555019741	chr1:210699635-210699636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532911493	chr1:210699649-210699650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568640162	chr1:210699651-210699652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12121296	chr1:210699653-210699654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181296815	chr1:210699666-210699667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536074130	chr1:210699685-210699686	Enhancers 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:183 , 50 per page) page: 1 2 3 4

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	chr1:210688400-210699600	Weak transcription	HSMMtube	muscle
4	chr1:210697000-210699400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:210697600-210699000	Weak transcription	Fetal Heart	heart
6	chr1:210698800-210701200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:210699000-210701200	Enhancers	Fetal Heart	heart
8	chr1:210699200-210700400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:210699200-210700800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:210699200-210700800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:210699400-210699600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:210699400-210699600	Enhancers	Fetal Muscle Leg	muscle
13	chr1:210699400-210700400	Enhancers	Fetal Lung	lung
14	chr1:210699400-210700600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:210699600-210700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:210699600-210700400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:210699600-210701000	Enhancers	HSMMtube	muscle
18	chr1:210699600-210701200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:210699800-210700600	Enhancers	Left Ventricle	heart
20	chr1:210700000-210700800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:210700400-210700800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:210700400-210700800	Enhancers	Fetal Muscle Leg	muscle
23	chr1:210700400-210700800	Enhancers	Spleen	Spleen
24	chr1:210700400-210703800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:210700800-210702200	Weak transcription	Spleen	Spleen
26	chr1:210700800-210708800	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:210700800-210709200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:210701000-210701200	Weak transcription	HSMMtube	muscle
29	chr1:210701200-210702000	Strong transcription	HSMMtube	muscle
30	chr1:210701200-210704600	Weak transcription	Fetal Heart	heart
31	chr1:210701200-210705000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:210702000-210702800	Weak transcription	HSMMtube	muscle
33	chr1:210702800-210703200	Strong transcription	HSMMtube	muscle
34	chr1:210703200-210704000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:210703200-210708200	Weak transcription	HSMMtube	muscle
36	chr1:210703800-210704000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:210703800-210704200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:210703800-210704200	Enhancers	Brain Germinal Matrix	brain
39	chr1:210703800-210704400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:210703800-210704400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:210704000-210704200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:210704000-210709400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:210704200-210704800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:210704200-210708600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:210704200-210708800	Weak transcription	Brain Germinal Matrix	brain
46	chr1:210704400-210708400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:210704400-210708600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:210704600-210706600	Enhancers	Fetal Heart	heart
49	chr1:210704800-210705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:210704800-210705400	Enhancers	HepG2	liver

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