Variant report

Variant	nsv547938
Chromosome Location	chr1:153686061-153692373
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	ATF3	chr1:153688756-153688956	K562	blood:	n/a	n/a
2	BATF	chr1:153689854-153690094	GM12878	blood:	n/a	chr1:153689961-153689972
3	BATF	chr1:153689840-153690071	GM12878	blood:	n/a	chr1:153689961-153689972
4	CTCF	chr1:153690120-153690270	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:153691062-153691140	MCF-7	breast:	n/a	n/a
6	CTCF	chr1:153691035-153691141	MCF-7	breast:	n/a	n/a
7	FOS	chr1:153691790-153691852	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:153688869-153688954	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:153691754-153691870	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr1:153688869-153688924	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr1:153688743-153688940	MCF10A-Er-Src	breast:	n/a	n/a
12	JUND	chr1:153688773-153688936	H1-hESC	embryonic stem cell:	n/a	chr1:153688880-153688891
13	JUND	chr1:153688770-153688931	K562	blood:	n/a	chr1:153688880-153688891
14	JUND	chr1:153688869-153688914	HepG2	liver:	n/a	chr1:153688880-153688891
15	RUNX3	chr1:153689842-153690164	GM12878	blood:	n/a	n/a
16	RUNX3	chr1:153689797-153690247	GM12878	blood:	n/a	n/a
17	ZNF384	chr1:153688714-153689065	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153668994..153671784-chr1:153687110..153689814,2	K562	blood:
2	chr1:153690798..153692537-chr1:153698848..153701656,2	K562	blood:
3	chr1:153685180..153687511-chr1:153746756..153749223,2	MCF-7	breast:
4	chr1:153677967..153682113-chr1:153686591..153688988,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ILF2-1	chr1:153689779-153690298	NONHSAT006541
2	lnc-ILF2-1	chr1:153690592-153690823	NONHSAT006541

Variant related genes	Relation type
ENSG00000235015	TF binding region
ENSG00000143624	chromatin interactions
ENSG00000143554	chromatin interactions

Extended variants
information (count: 246 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182643492	chr1:153686068-153686069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529762842	chr1:153686077-153686078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78157556	chr1:153686086-153686087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566719982	chr1:153686100-153686101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536754117	chr1:153686107-153686108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552465630	chr1:153686109-153686110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570675176	chr1:153686120-153686121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538192108	chr1:153686134-153686135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556290701	chr1:153686150-153686151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187649208	chr1:153686151-153686152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558467716	chr1:153686165-153686166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556676141	chr1:153686189-153686190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150890055	chr1:153686210-153686211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148544971	chr1:153686211-153686212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535619403	chr1:153686279-153686280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553922632	chr1:153686284-153686285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142821256	chr1:153686289-153686290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs193223021	chr1:153686341-153686342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550682165	chr1:153686354-153686355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562206445	chr1:153686389-153686390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576669464	chr1:153686395-153686396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369099463	chr1:153686411-153686412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11805092	chr1:153686441-153686442	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376209512	chr1:153686448-153686449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559205476	chr1:153686508-153686509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373239388	chr1:153686532-153686533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560304703	chr1:153686533-153686534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527454618	chr1:153686542-153686543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552403024	chr1:153686547-153686548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111382009	chr1:153686558-153686559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531545818	chr1:153686584-153686585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185655691	chr1:153686595-153686596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369000458	chr1:153686613-153686614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568388154	chr1:153686656-153686657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535537067	chr1:153686663-153686664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573069361	chr1:153686704-153686705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547454074	chr1:153686727-153686728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138905898	chr1:153686732-153686733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190172146	chr1:153686752-153686753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558079602	chr1:153686754-153686755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192311302	chr1:153686758-153686759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565137437	chr1:153686788-153686789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537392498	chr1:153686796-153686797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371130018	chr1:153686844-153686845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562751637	chr1:153686920-153686921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577744501	chr1:153686936-153686937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376330295	chr1:153686940-153686941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574316499	chr1:153686952-153686953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375759066	chr1:153686953-153686954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576003512	chr1:153686959-153686960	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153687000-153687200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:153687200-153687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:153687400-153699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:153690200-153690400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:153690400-153699000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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