Variant report

Variant	nsv945411
Chromosome Location	chr1:242538445-242542299
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	CTCF	chr1:242540509-242540562	GM10266	blood:	n/a	n/a
2	POLR2A	chr1:242540314-242540587	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:242538682-242538701	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:242539443-242539765	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242536607..242538996-chr1:242545702..242547462,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213690	TF binding region

Extended variants
information (count: 155 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369868094	chr1:242538462-242538463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556531696	chr1:242538507-242538508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377055181	chr1:242538525-242538526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564058217	chr1:242538549-242538550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12130795	chr1:242538572-242538573	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374579701	chr1:242538580-242538581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556061449	chr1:242538583-242538584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572711903	chr1:242538635-242538636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77345251	chr1:242538738-242538739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12568231	chr1:242538765-242538766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141791232	chr1:242538790-242538791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576860307	chr1:242538791-242538792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545538739	chr1:242538852-242538853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12141805	chr1:242538855-242538856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139562421	chr1:242538883-242538884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567160700	chr1:242538888-242538889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181461080	chr1:242538901-242538902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570956745	chr1:242538908-242538909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561629912	chr1:242538929-242538930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539427264	chr1:242538933-242538934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527531433	chr1:242538953-242538954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186149210	chr1:242538982-242538983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564087100	chr1:242539018-242539019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533472065	chr1:242539025-242539026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7547268	chr1:242539043-242539044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs6694290	chr1:242539072-242539073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs535833901	chr1:242539080-242539081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6656703	chr1:242539132-242539133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs57275410	chr1:242539156-242539157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535273826	chr1:242539160-242539161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190952745	chr1:242539216-242539217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182036861	chr1:242539222-242539223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140089899	chr1:242539238-242539239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539537952	chr1:242539252-242539253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186055903	chr1:242539257-242539258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12759018	chr1:242539330-242539331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35518314	chr1:242539333-242539334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4100882	chr1:242539334-242539335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4100881	chr1:242539362-242539363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541422977	chr1:242539364-242539365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4100880	chr1:242539395-242539396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34275271	chr1:242539433-242539434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190977916	chr1:242539454-242539455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149789914	chr1:242539480-242539481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540881279	chr1:242539527-242539528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12142037	chr1:242539541-242539542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574197969	chr1:242539549-242539550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532949143	chr1:242539589-242539590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550282923	chr1:242539599-242539600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113570743	chr1:242539604-242539605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242485600-242555400	Weak transcription	Aorta	Aorta
2	chr1:242522600-242555000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:242537600-242538600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:242538000-242555400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:242538600-242549600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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