Variant report

Variant	nsv870844
Chromosome Location	chr1:103785095-104017778
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	CEBPB	chr1:103913905-103914207	IMR90	lung:	n/a	n/a
2	CEBPB	chr1:103913892-103914282	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr1:103915238-103916001	A549	lung:	n/a	n/a
4	CEBPB	chr1:103913925-103914207	A549	lung:	n/a	n/a
5	CEBPB	chr1:103916459-103916756	IMR90	lung:	n/a	chr1:103916605-103916616
6	CEBPB	chr1:103913878-103914176	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr1:104017575-104017817	HepG2	liver:	n/a	chr1:104017690-104017701
8	CEBPB	chr1:103913942-103914216	A549	lung:	n/a	n/a
9	CEBPB	chr1:103916506-103916758	A549	lung:	n/a	chr1:103916605-103916616
10	CEBPB	chr1:103913873-103914258	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:104017550-104017878	IMR90	lung:	n/a	chr1:104017690-104017701
12	CEBPB	chr1:103916500-103916774	HepG2	liver:	n/a	chr1:103916605-103916616
13	CTCF	chr1:103804417-103804596	GM19239	blood:	n/a	n/a
14	CTCF	chr1:103827959-103827984	GM20000	blood:	n/a	n/a
15	CTCF	chr1:104003866-104004064	A549	lung:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
16	CTCF	chr1:103804445-103804570	GM10266	blood:	n/a	n/a
17	CTCF	chr1:104003840-104003990	HCM	heart:	n/a	n/a
18	CTCF	chr1:104003900-104004050	HepG2	liver:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
19	CTCF	chr1:103944181-103944287	GM10266	blood:	n/a	n/a
20	CTCF	chr1:104003960-104004110	GM12875	blood:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
21	CTCF	chr1:103959701-103959747	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr1:103994352-103994366	GM20000	blood:	n/a	n/a
23	CTCF	chr1:103797914-103797922	GM13977	blood:	n/a	n/a
24	CTCF	chr1:103804431-103804573	GM13976	blood:	n/a	n/a
25	CTCF	chr1:104003960-104004110	SK-N-SH_RA	brain:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
26	CTCF	chr1:103819399-103819493	GM20000	blood:	n/a	n/a
27	CTCF	chr1:104003840-104003990	HCT-116	colon:	n/a	n/a
28	CTCF	chr1:104003880-104004030	GM12865	blood:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
29	CTCF	chr1:104003940-104004090	HPF	lung:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
30	CTCF	chr1:103820011-103820065	Fibrobl	skin:	n/a	n/a
31	CTCF	chr1:104003889-104004110	LNCaP	prostate:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
32	CTCF	chr1:103944159-103944298	NHEK	skin:	n/a	n/a
33	CTCF	chr1:104003880-104004030	SAEC	small airway:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
34	CTCF	chr1:104003920-104004070	GM12870	blood:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
35	CTCF	chr1:104003900-104004050	NHEK	skin:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
36	CTCF	chr1:104003900-104004050	Caco-2	colon:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
37	CTCF	chr1:103804448-103804559	LNCaP	prostate:	n/a	n/a
38	CTCF	chr1:103804397-103804615	GM12892	blood:	n/a	n/a
39	CTCF	chr1:104004000-104004150	HVMF	connective:	n/a	n/a
40	CTCF	chr1:103804386-103804594	GM19240	blood:	n/a	n/a
41	CTCF	chr1:104003960-104004110	GM12864	blood:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
42	CTCF	chr1:104003940-104004090	AG10803	skin:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
43	CTCF	chr1:104004040-104004190	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr1:104003927-104004117	GM20000	blood:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
45	CTCF	chr1:104003391-104003493	Lung_OC	lung:	n/a	n/a
46	CTCF	chr1:103944157-103944329	GM13977	blood:	n/a	n/a
47	CTCF	chr1:104003920-104004070	GM12865	blood:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
48	CTCF	chr1:104003760-104003910	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr1:104003900-104004050	HBMEC	blood vessel:	n/a	chr1:104003995-104004013 chr1:104003990-104004011
50	CTCF	chr1:104003840-104003990	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:103571462..103572103-chr1:104003560..104004261,2	MCF-7	breast:
2	chr1:103571876..103572435-chr1:104003675..104004308,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNPC3-2	chr1:103827995-103828355	XLOC_000324
2	lnc-AMY1B-1	chr1:103835781-103835986	XLOC_000945
3	lnc-AMY1B-1	chr1:104011964-104012012	ENSG00000224613.2
4	lnc-AMY1B-1	chr1:103820969-103821114	XLOC_000945
5	lnc-AMY1B-1	chr1:103835781-103835986	XLOC_000945
6	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
7	lnc-AMY1B-1	chr1:103832177-103832263	XLOC_000945
8	lnc-AMY1B-1	chr1:103821644-103821705	XLOC_000945
9	lnc-AMY1B-1	chr1:103975513-103975718	ENSG00000224613.2
10	lnc-AMY1B-1	chr1:103971909-103971995	ENSG00000224613.2
11	lnc-AMY1B-1	chr1:103961376-103961437	XLOC_000945
12	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
13	lnc-AMY1B-1	chr1:103832177-103832263	XLOC_000945
14	lnc-RNPC3-1	chr1:103967727-103968087	XLOC_000325
15	lnc-RNPC3-1	chr1:103957501-103957557	XLOC_000325
16	lnc-AMY1B-1	chr1:103975600-103975718	XLOC_000945
17	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
18	lnc-AMY1B-1	chr1:104011964-104012014	XLOC_000945
19	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
20	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
21	lnc-AMY1B-1	chr1:103821659-103821705	XLOC_000945
22	lnc-AMY1B-1	chr1:103961391-103961437	XLOC_000945
23	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
24	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
25	lnc-RNPC3-2	chr1:103817769-103817825	XLOC_000324
26	lnc-AMY1B-1	chr1:103961376-103961437	ENSG00000224613.2
27	lnc-AMY1B-1	chr1:103960701-103960846	XLOC_000945
28	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945

Variant related genes	Relation type
ENSG00000230759	TF binding region
ENSG00000234037	TF binding region
ENSG00000232753	TF binding region
DYRK2	miRNA target sites
TOMM20	miRNA target sites
EGR1	miRNA target sites
TOM1L2	miRNA target sites
TOMM34	miRNA target sites
EGR2	miRNA target sites
EGLN3	miRNA target sites

Extended variants
information (count: 415 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373074218	chr1:103913956-103913957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370484358	chr1:103914004-103914005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563491636	chr1:103914016-103914017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531042218	chr1:103914126-103914127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147990333	chr1:103914211-103914212	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141617544	chr1:103914216-103914217	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535635987	chr1:103914257-103914258	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547421572	chr1:103914277-103914278	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534503431	chr1:103914298-103914299	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150080245	chr1:103914355-103914356	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115215576	chr1:103914369-103914370	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28576594	chr1:103914533-103914534	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575921487	chr1:103914542-103914543	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138739047	chr1:103914598-103914599	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376020376	chr1:103914600-103914601	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555031714	chr1:103914607-103914608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538461299	chr1:103914632-103914633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72692392	chr1:103914661-103914662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556668901	chr1:103914734-103914735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529594117	chr1:103914776-103914777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142554350	chr1:103914796-103914797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375756057	chr1:103914797-103914798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547936832	chr1:103914830-103914831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566161725	chr1:103914878-103914879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142727266	chr1:103914989-103914990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375953132	chr1:103914995-103914996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578201549	chr1:103915035-103915036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12096158	chr1:103915049-103915050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545342095	chr1:103915052-103915053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189549317	chr1:103915058-103915059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6657566	chr1:103915062-103915063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181970407	chr1:103915110-103915111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368656557	chr1:103915123-103915124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527337031	chr1:103915132-103915133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184747788	chr1:103915140-103915141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555165181	chr1:103915194-103915195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188761620	chr1:103915210-103915211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547580400	chr1:103915328-103915329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181553403	chr1:103915385-103915386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533281607	chr1:103915395-103915396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570251456	chr1:103915400-103915401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569349373	chr1:103915445-103915446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146327802	chr1:103915449-103915450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537446399	chr1:103915454-103915455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186034352	chr1:103915455-103915456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191083252	chr1:103915456-103915457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567022482	chr1:103915457-103915458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367622172	chr1:103915479-103915480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553545613	chr1:103915484-103915485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181467460	chr1:103915499-103915500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	19287141	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103913800-103914200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:103913800-103915400	Enhancers	Adipose Nuclei	Adipose
3	chr1:103914000-103914600	Enhancers	Fetal Heart	heart
4	chr1:103914000-103915400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:103914200-103914600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:103914200-103914600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:103914200-103916200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:103914600-103914800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:103914600-103916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:103914800-103915800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:103915600-103916200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:103915800-103916200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:103920200-103920600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:104003600-104005400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:104003800-104005400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:104004600-104005200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:104004600-104005200	Enhancers	HUVEC	blood vessel
18	chr1:104004800-104005200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:104004800-104005200	Enhancers	HMEC	breast
20	chr1:104008600-104009600	Weak transcription	Aorta	Aorta
21	chr1:104009600-104010400	Strong transcription	Aorta	Aorta
22	chr1:104010400-104015800	Weak transcription	Aorta	Aorta

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