Variant report

Variant	nsv430058
Chromosome Location	chr1:193684343-193702343
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	BRCA1	chr1:193698698-193699470	Hela-S3	cervix:	n/a	chr1:193699005-193699012
2	CEBPB	chr1:193699094-193699474	A549	lung:	n/a	chr1:193699268-193699279
3	CEBPB	chr1:193699029-193699628	A549	lung:	n/a	chr1:193699268-193699279
4	CEBPB	chr1:193699108-193699363	H1-hESC	embryonic stem cell:	n/a	chr1:193699268-193699279
5	CEBPB	chr1:193695894-193696197	IMR90	lung:	n/a	n/a
6	CEBPB	chr1:193698986-193699504	IMR90	lung:	n/a	chr1:193699268-193699279
7	CEBPB	chr1:193699089-193699516	A549	lung:	n/a	chr1:193699268-193699279
8	CEBPB	chr1:193699110-193699457	HepG2	liver:	n/a	chr1:193699268-193699279
9	CEBPB	chr1:193699183-193699433	MCF-7	breast:	n/a	chr1:193699268-193699279
10	CEBPB	chr1:193698681-193699641	Hela-S3	cervix:	n/a	chr1:193699268-193699279
11	EP300	chr1:193699015-193699664	SK-N-SH	brain:	n/a	chr1:193699122-193699130 chr1:193699372-193699381
12	EP300	chr1:193694609-193694877	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr1:193698574-193699591	Hela-S3	cervix:	n/a	chr1:193699122-193699130 chr1:193699372-193699381 chr1:193698962-193698972
14	EP300	chr1:193699180-193699562	SK-N-SH_RA	brain:	n/a	chr1:193699372-193699381
15	EP300	chr1:193698645-193698911	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr1:193699124-193699598	SK-N-SH_RA	brain:	n/a	chr1:193699372-193699381
17	FOS	chr1:193698570-193699564	MCF10A-Er-Src	breast:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
18	FOS	chr1:193698577-193699563	MCF10A-Er-Src	breast:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
19	FOS	chr1:193698558-193699548	MCF10A-Er-Src	breast:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
20	FOS	chr1:193699169-193699565	Hela-S3	cervix:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
21	FOS	chr1:193698585-193699500	MCF10A-Er-Src	breast:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
22	FOSL2	chr1:193699204-193699599	SK-N-SH	brain:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699372-193699380
23	FOSL2	chr1:193698514-193699624	A549	lung:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
24	FOXA2	chr1:193692293-193692741	A549	lung:	n/a	n/a
25	FOXA2	chr1:193698821-193699362	A549	lung:	n/a	chr1:193699088-193699100
26	FOXA2	chr1:193692264-193692839	A549	lung:	n/a	n/a
27	GATA1	chr1:193698638-193699499	PBDE	blood:	n/a	chr1:193699343-193699353 chr1:193699344-193699353 chr1:193699196-193699203 chr1:193699344-193699351 chr1:193699193-193699203
28	GATA3	chr1:193693477-193693761	MCF-7	breast:	n/a	n/a
29	GATA3	chr1:193698917-193699624	SK-N-SH	brain:	n/a	chr1:193699343-193699353 chr1:193699344-193699353 chr1:193699196-193699203 chr1:193699344-193699351 chr1:193699193-193699203
30	GATA3	chr1:193699045-193699665	A549	lung:	n/a	chr1:193699343-193699353 chr1:193699344-193699353 chr1:193699196-193699203 chr1:193699344-193699351 chr1:193699193-193699203
31	GATA3	chr1:193698475-193698911	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr1:193693414-193693744	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr1:193693414-193693812	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr1:193698519-193699743	SK-N-SH	brain:	n/a	chr1:193699343-193699353 chr1:193699344-193699353 chr1:193699196-193699203 chr1:193699344-193699351 chr1:193699193-193699203
35	HEY1	chr1:193692479-193692689	K562	blood:	n/a	n/a
36	JUN	chr1:193698574-193699537	Hela-S3	cervix:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
37	JUND	chr1:193699079-193699535	SK-N-SH	brain:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
38	JUND	chr1:193698623-193699033	SK-N-SH	brain:	n/a	n/a
39	JUND	chr1:193698545-193699580	Hela-S3	cervix:	n/a	chr1:193699372-193699380 chr1:193699372-193699379 chr1:193699190-193699199 chr1:193699372-193699380
40	MAX	chr1:193699172-193699515	Hela-S3	cervix:	n/a	chr1:193699372-193699381
41	MYC	chr1:193699257-193699501	MCF10A-Er-Src	breast:	n/a	chr1:193699372-193699381
42	MYC	chr1:193699229-193699238	Hela-S3	cervix:	n/a	n/a
43	MYC	chr1:193694810-193694851	GM12878	blood:	n/a	n/a
44	MYC	chr1:193699247-193699491	Hela-S3	cervix:	n/a	chr1:193699372-193699381
45	NANOG	chr1:193697039-193697341	H1-hESC	embryonic stem cell:	n/a	n/a
46	NANOG	chr1:193697048-193697282	H1-hESC	embryonic stem cell:	n/a	n/a
47	NFIC	chr1:193699075-193699706	SK-N-SH	brain:	n/a	n/a
48	NFIC	chr1:193698406-193699031	SK-N-SH	brain:	n/a	n/a
49	PBX3	chr1:193698589-193698949	SK-N-SH	brain:	n/a	n/a
50	PBX3	chr1:193699106-193699530	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193678450..193681158-chr1:193682285..193685229,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-2	chr1:193694731-193694815	ENSG00000226640.2
2	lnc-CDC73-2	chr1:193694731-193694815	XLOC_000509
3	lnc-CDC73-2	chr1:193695962-193696313	XLOC_000509
4	lnc-CDC73-2	chr1:193695962-193696165	ENSG00000226640.2

Variant related genes	Relation type
ENSG00000252241	TF binding region

Extended variants
information (count: 240 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:240 , 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	rs373467696	chr1:193684614-193684615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565719143	chr1:193684634-193684635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10921415	chr1:193684639-193684640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7541925	chr1:193684654-193684655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551622129	chr1:193684667-193684668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571354359	chr1:193684669-193684670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12408312	chr1:193684673-193684674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184621046	chr1:193684675-193684676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567414539	chr1:193684676-193684677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536331523	chr1:193684692-193684693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553020005	chr1:193684705-193684706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17376854	chr1:193684728-193684729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541364650	chr1:193684731-193684732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558391007	chr1:193684735-193684736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12034223	chr1:193684737-193684738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544043794	chr1:193684747-193684748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563522078	chr1:193684755-193684756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17376861	chr1:193684770-193684771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561483193	chr1:193684777-193684778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189945369	chr1:193684797-193684798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541308535	chr1:193684802-193684803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551394600	chr1:193684819-193684820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367564941	chr1:193684825-193684826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560492020	chr1:193684833-193684834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530710923	chr1:193684880-193684881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17304880	chr1:193684886-193684887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371325731	chr1:193684923-193684924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7552269	chr1:193684940-193684941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10709208	chr1:193684951-193684952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535555379	chr1:193694614-193694615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568222799	chr1:193694654-193694655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184069536	chr1:193694680-193694681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528404940	chr1:193694689-193694690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74328300	chr1:193694705-193694706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565078560	chr1:193694729-193694730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536568126	chr1:193694740-193694741	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs550786840	chr1:193694762-193694763	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs2031831	chr1:193694777-193694778	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536337753	chr1:193694799-193694800	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368166597	chr1:193694805-193694806	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs546589928	chr1:193694822-193694823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566314899	chr1:193694831-193694832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75335855	chr1:193694837-193694838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558126256	chr1:193694841-193694842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371781996	chr1:193694879-193694880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4657760	chr1:193694880-193694881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578007137	chr1:193694889-193694890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540109242	chr1:193694918-193694919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs41314555	chr1:193694951-193694952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147794803	chr1:193694958-193694959	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	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
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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193684600-193685000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:193694600-193695000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:193695000-193697600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:193695800-193697800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:193696000-193696200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:193696400-193697600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:193696600-193697600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:193696800-193697000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
9	chr1:193696800-193697200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:193696800-193697200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr1:193696800-193697600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr1:193697000-193697400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr1:193697600-193697800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:193698400-193698600	Enhancers	A549	lung
15	chr1:193698600-193698800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr1:193698600-193699000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:193698600-193699400	Enhancers	Fetal Heart	heart
18	chr1:193698600-193699600	Flanking Active TSS	A549	lung
19	chr1:193698600-193700400	Enhancers	Hela-S3	cervix

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