Variant report

Variant	nsv946503
Chromosome Location	chr1:171413300-171424577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:171416008-171416009	K562	blood:	n/a	n/a
2	CTCF	chr1:171418589-171418650	GM10266	blood:	n/a	n/a
3	CTCF	chr1:171416300-171416450	NHDF-neo	bronchial:	n/a	n/a
4	POLR2A	chr1:171418412-171418544	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:171413459-171413579	ProgFib	skin:	n/a	n/a
6	POLR2A	chr1:171419225-171419284	A549	lung:	n/a	n/a
7	POLR2A	chr1:171419298-171419319	A549	lung:	n/a	n/a
8	POLR2A	chr1:171419496-171419548	ProgFib	skin:	n/a	n/a
9	POLR2A	chr1:171419308-171419356	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:171417877-171418060	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:171415747-171415754	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF7L2	chr1:171424244-171424276	Hela-S3	cervix:	n/a	n/a
13	ZNF384	chr1:171419379-171419459	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOC-3	chr1:171413838-171414102	NONHSAT007530

Variant related genes	Relation type
CYCSP53	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116060015	chr1:171413322-171413323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533265501	chr1:171413343-171413344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570704150	chr1:171413401-171413402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534802862	chr1:171413410-171413411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186547089	chr1:171413450-171413451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572477883	chr1:171413491-171413492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568817505	chr1:171413495-171413496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189504849	chr1:171413500-171413501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181906715	chr1:171413518-171413519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546530515	chr1:171413539-171413540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146821783	chr1:171413557-171413558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185505542	chr1:171413578-171413579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74837574	chr1:171413585-171413586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565217541	chr1:171413600-171413601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140481997	chr1:171413620-171413621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541578633	chr1:171413639-171413640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559205938	chr1:171413664-171413665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59660141	chr1:171413669-171413670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs57585140	chr1:171413674-171413675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561420778	chr1:171413715-171413716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530513627	chr1:171413726-171413727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112628041	chr1:171413857-171413858	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs552535265	chr1:171413894-171413895	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs7522366	chr1:171413912-171413913	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs138114822	chr1:171413957-171413958	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs12128241	chr1:171413960-171413961	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566050906	chr1:171414028-171414029	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs536793751	chr1:171414053-171414054	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs554641891	chr1:171414068-171414069	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs569744443	chr1:171414093-171414094	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs537032092	chr1:171414122-171414123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558838108	chr1:171414142-171414143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570347527	chr1:171414143-171414144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536229906	chr1:171414149-171414150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6701924	chr1:171414235-171414236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79587831	chr1:171414259-171414260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140905319	chr1:171414278-171414279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189768310	chr1:171414376-171414377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535616688	chr1:171414405-171414406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75068091	chr1:171414412-171414413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76724746	chr1:171414415-171414416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183147583	chr1:171414432-171414433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528349674	chr1:171414443-171414444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375000060	chr1:171414472-171414473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546569093	chr1:171414505-171414506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568293193	chr1:171414538-171414539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529057242	chr1:171414547-171414548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79015765	chr1:171414554-171414555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548239499	chr1:171414557-171414558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377358708	chr1:171414578-171414579	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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171409000-171415200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:171411200-171413800	Weak transcription	NHDF-Ad	bronchial
3	chr1:171411200-171415000	Weak transcription	Osteobl	bone
4	chr1:171413800-171414200	Enhancers	NHDF-Ad	bronchial
5	chr1:171415000-171415400	Enhancers	Osteobl	bone
6	chr1:171415200-171415600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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