Variant report

Variant	nsv872655
Chromosome Location	chr1:189045079-189114608
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	CBX3	chr1:189094793-189095258	HCT-116	colon:	n/a	n/a
2	CEBPB	chr1:189055124-189055368	A549	lung:	n/a	n/a
3	CHD2	chr1:189109985-189110031	K562	blood:	n/a	n/a
4	CTCF	chr1:189047540-189047690	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr1:189054645-189055127	HCT-116	colon:	n/a	chr1:189054854-189054875
6	CTCF	chr1:189061917-189062041	GM10248	blood:	n/a	n/a
7	CTCF	chr1:189054780-189054930	MCF-7	breast:	n/a	chr1:189054854-189054875
8	CTCF	chr1:189080056-189080085	GM10248	blood:	n/a	n/a
9	CTCF	chr1:189054696-189055012	MCF-7	breast:	n/a	chr1:189054854-189054875
10	CTCF	chr1:189061934-189062038	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr1:189071260-189071410	GM12873	blood:	n/a	n/a
12	CTCF	chr1:189053184-189053269	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:189054679-189055027	MCF-7	breast:	n/a	chr1:189054854-189054875
14	CTCF	chr1:189088177-189088196	GM20000	blood:	n/a	n/a
15	CTCF	chr1:189102891-189102940	GM20000	blood:	n/a	n/a
16	CTCF	chr1:189054720-189054870	RPTEC	kidney:	n/a	n/a
17	CTCF	chr1:189070334-189070403	Lung_OC	lung:	n/a	n/a
18	CUX1	chr1:189059262-189059290	GM12878	blood:	n/a	n/a
19	E2F4	chr1:189105673-189105827	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr1:189104470-189105034	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr1:189094601-189094715	MCF10A-Er-Src	breast:	n/a	n/a
22	ELK1	chr1:189068752-189068833	GM12878	blood:	n/a	n/a
23	EP300	chr1:189080278-189080282	Hela-S3	cervix:	n/a	n/a
24	FOS	chr1:189073208-189073287	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:189100700-189101133	MCF10A-Er-Src	breast:	n/a	chr1:189100888-189100898 chr1:189100888-189100898 chr1:189100888-189100897 chr1:189100890-189100897 chr1:189100887-189100898
26	FOS	chr1:189073191-189073266	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:189100703-189101078	MCF10A-Er-Src	breast:	n/a	chr1:189100888-189100898 chr1:189100888-189100898 chr1:189100888-189100897 chr1:189100890-189100897 chr1:189100887-189100898
28	FOS	chr1:189100656-189101083	MCF10A-Er-Src	breast:	n/a	chr1:189100888-189100898 chr1:189100888-189100898 chr1:189100888-189100897 chr1:189100890-189100897 chr1:189100887-189100898
29	FOS	chr1:189100667-189101103	MCF10A-Er-Src	breast:	n/a	chr1:189100888-189100898 chr1:189100888-189100898 chr1:189100888-189100897 chr1:189100890-189100897 chr1:189100887-189100898
30	FOS	chr1:189100730-189100961	HUVEC	blood vessel:	n/a	chr1:189100888-189100898 chr1:189100888-189100898 chr1:189100888-189100897 chr1:189100890-189100897 chr1:189100887-189100898
31	GATA3	chr1:189076888-189076962	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr1:189073612-189073662	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr1:189091258-189091629	SH-SY5Y	brain:	n/a	chr1:189091456-189091465 chr1:189091421-189091428 chr1:189091421-189091428 chr1:189091421-189091428
34	GATA3	chr1:189071086-189071139	SH-SY5Y	brain:	n/a	n/a
35	JUN	chr1:189092186-189092321	K562	blood:	n/a	n/a
36	JUND	chr1:189085409-189085410	H1-hESC	embryonic stem cell:	n/a	n/a
37	KAP1	chr1:189094882-189095166	U2OS	brain:	n/a	n/a
38	KAP1	chr1:189094761-189095280	HEK293	kidney:	n/a	n/a
39	KAP1	chr1:189081597-189081979	K562	blood:	n/a	n/a
40	MAFF	chr1:189086231-189086580	K562	blood:	n/a	chr1:189086390-189086408
41	MAFF	chr1:189086221-189086581	HepG2	liver:	n/a	chr1:189086390-189086408
42	MAFF	chr1:189099536-189099728	K562	blood:	n/a	chr1:189099607-189099625
43	MAFF	chr1:189099469-189099753	HepG2	liver:	n/a	chr1:189099607-189099625
44	MAFF	chr1:189055990-189056077	HepG2	liver:	n/a	n/a
45	MAFK	chr1:189086235-189086592	H1-hESC	embryonic stem cell:	n/a	chr1:189086392-189086407
46	MAFK	chr1:189086218-189086588	HepG2	liver:	n/a	chr1:189086392-189086407
47	MAFK	chr1:189055977-189056109	HepG2	liver:	n/a	chr1:189056011-189056025 chr1:189056012-189056023
48	MAFK	chr1:189086232-189086587	K562	blood:	n/a	chr1:189086392-189086407
49	MAFK	chr1:189086207-189086589	IMR90	lung:	n/a	chr1:189086392-189086407
50	MAFK	chr1:189099470-189099732	HepG2	liver:	n/a	chr1:189099608-189099623

No.	Distal block	Cell Line	Cell type
1	chr1:189109069..189111895-chr1:189118017..189120459,2	K562	blood:
2	chr1:189103992..189106373-chr1:189109756..189111271,2	MCF-7	breast:
3	chr1:189051136..189054044-chr1:189118022..189120373,2	K562	blood:
4	chr1:189055283..189057511-chr1:189118631..189120197,2	K562	blood:
5	chr1:189067488..189069433-chr1:189071978..189073549,2	K562	blood:
6	chr1:187897177..187897914-chr1:189054892..189055529,2	MCF-7	breast:
7	chr1:189103992..189106373-chr1:189109756..189111271,2	MCF-7	breast:
8	chr1:189110161..189112248-chr17:56736351..56738349,2	MCF-7	breast:
9	chr1:189078335..189080710-chr1:189084849..189087799,2	K562	blood:
10	chr1:189112586..189116347-chr1:189117211..189120686,6	K562	blood:
11	chr1:189067488..189069433-chr1:189071978..189073549,2	K562	blood:
12	chr1:189078335..189080710-chr1:189084849..189087799,2	K562	blood:

Variant related genes	Relation type
ENSG00000226196	TF binding region
ENSG00000202077	chromatin interactions

Extended variants
information (count: 660 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150514303	chr1:189055003-189055004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140725544	chr1:189055030-189055031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548156995	chr1:189055037-189055038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377279338	chr1:189055096-189055097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527755073	chr1:189055116-189055117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189666412	chr1:189055120-189055121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566617602	chr1:189055123-189055124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538835581	chr1:189055124-189055125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558820349	chr1:189055154-189055155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569149610	chr1:189055158-189055159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12563824	chr1:189055180-189055181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538158084	chr1:189055220-189055221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183018801	chr1:189055243-189055244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574359214	chr1:189055273-189055274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540275313	chr1:189055281-189055282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553582135	chr1:189055283-189055284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576910743	chr1:189055335-189055336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187976529	chr1:189055339-189055340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112814651	chr1:189055348-189055349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572274408	chr1:189055370-189055371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73044195	chr1:189055379-189055380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183294051	chr1:189055414-189055415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527689972	chr1:189055431-189055432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187583359	chr1:189055462-189055463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139831922	chr1:189055494-189055495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192262986	chr1:189055505-189055506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143159047	chr1:189055524-189055525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184848426	chr1:189055526-189055527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538096473	chr1:189055586-189055587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188052672	chr1:189055595-189055596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192562728	chr1:189091022-189091023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6702671	chr1:189091127-189091128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553808094	chr1:189091206-189091207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570411657	chr1:189091223-189091224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139129727	chr1:189091246-189091247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556194006	chr1:189091254-189091255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576205246	chr1:189091330-189091331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574195332	chr1:189091331-189091332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532767006	chr1:189091339-189091340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182451142	chr1:189091416-189091417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555989931	chr1:189091458-189091459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572728031	chr1:189091462-189091463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541690352	chr1:189091465-189091466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187775937	chr1:189091467-189091468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192453637	chr1:189091481-189091482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143638573	chr1:189091579-189091580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563395781	chr1:189091580-189091581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78876673	chr1:189091585-189091586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184848806	chr1:189091649-189091650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561524404	chr1:189091674-189091675	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189055000-189055600	Enhancers	Fetal Brain Male	brain
2	chr1:189091000-189092000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:189091200-189091800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:189098000-189102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:189106200-189110600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:189110400-189111000	ZNF genes & repeats	Pancreas	Pancrea
7	chr1:189110600-189111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:189111000-189118800	Weak transcription	Pancreas	Pancrea

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