Variant report

Variant	nsv508426
Chromosome Location	chr1:103776224-103916646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:103916506-103916758	A549	lung:	n/a	chr1:103916605-103916616
2	CEBPB	chr1:103913905-103914207	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:103913942-103914216	A549	lung:	n/a	n/a
4	CEBPB	chr1:103915238-103916001	A549	lung:	n/a	n/a
5	CEBPB	chr1:103913892-103914282	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr1:103916459-103916756	IMR90	lung:	n/a	chr1:103916605-103916616
7	CEBPB	chr1:103913878-103914176	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr1:103913925-103914207	A549	lung:	n/a	n/a
9	CEBPB	chr1:103913873-103914258	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr1:103916500-103916774	HepG2	liver:	n/a	chr1:103916605-103916616
11	CTCF	chr1:103804422-103804589	GM12878	blood:	n/a	n/a
12	CTCF	chr1:103799838-103799920	GM13976	blood:	n/a	n/a
13	CTCF	chr1:103804438-103804548	HepG2	liver:	n/a	n/a
14	CTCF	chr1:103790303-103790322	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr1:103827959-103827984	GM20000	blood:	n/a	n/a
16	CTCF	chr1:103816831-103816880	GM20000	blood:	n/a	n/a
17	CTCF	chr1:103849312-103849357	GM13976	blood:	n/a	n/a
18	CTCF	chr1:103819399-103819493	GM20000	blood:	n/a	n/a
19	CTCF	chr1:103804471-103804554	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr1:103804386-103804594	GM19240	blood:	n/a	n/a
21	CTCF	chr1:103797914-103797922	GM13977	blood:	n/a	n/a
22	CTCF	chr1:103804431-103804573	GM13976	blood:	n/a	n/a
23	CTCF	chr1:103804455-103804489	GM20000	blood:	n/a	n/a
24	CTCF	chr1:103792446-103792473	LNCaP	prostate:	n/a	n/a
25	CTCF	chr1:103787473-103787520	GM20000	blood:	n/a	n/a
26	CTCF	chr1:103804435-103804561	NHEK	skin:	n/a	n/a
27	CTCF	chr1:103804425-103804578	GM10248	blood:	n/a	n/a
28	CTCF	chr1:103804445-103804570	GM10266	blood:	n/a	n/a
29	CTCF	chr1:103804472-103804543	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:103788263-103788316	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr1:103804417-103804596	GM19239	blood:	n/a	n/a
32	CTCF	chr1:103804425-103804569	K562	blood:	n/a	n/a
33	CTCF	chr1:103838603-103838671	GM13977	blood:	n/a	n/a
34	CTCF	chr1:103804417-103804600	Fibrobl	skin:	n/a	n/a
35	CTCF	chr1:103804448-103804559	LNCaP	prostate:	n/a	n/a
36	CTCF	chr1:103787283-103787312	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr1:103804403-103804606	GM19238	blood:	n/a	n/a
38	CTCF	chr1:103860751-103860760	GM10248	blood:	n/a	n/a
39	CTCF	chr1:103804446-103804552	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:103804445-103804555	ProgFib	skin:	n/a	n/a
41	CTCF	chr1:103845440-103845545	Lung_OC	lung:	n/a	n/a
42	CTCF	chr1:103860705-103860743	GM10248	blood:	n/a	n/a
43	CTCF	chr1:103851593-103851614	GM13976	blood:	n/a	n/a
44	CTCF	chr1:103799724-103799843	LNCaP	prostate:	n/a	n/a
45	CTCF	chr1:103794978-103795054	GM13976	blood:	n/a	n/a
46	CTCF	chr1:103803415-103803516	Lung_OC	lung:	n/a	n/a
47	CTCF	chr1:103855761-103855844	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr1:103820011-103820065	Fibrobl	skin:	n/a	n/a
49	CTCF	chr1:103862823-103862853	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr1:103804432-103804562	Gliobla	brain:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:103782068..103783588-chr9:68418092..68420757,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNPC3-2	chr1:103817769-103817825	XLOC_000324
2	lnc-AMY1B-1	chr1:103821659-103821705	XLOC_000945
3	lnc-AMY1B-1	chr1:103820969-103821114	XLOC_000945
4	lnc-AMY1B-1	chr1:103832177-103832263	XLOC_000945
5	lnc-AMY1B-1	chr1:103821644-103821705	XLOC_000945
6	lnc-AMY1B-1	chr1:103835781-103835986	XLOC_000945
7	lnc-AMY1B-1	chr1:103835781-103835986	XLOC_000945
8	lnc-AMY1B-1	chr1:103832177-103832263	XLOC_000945
9	lnc-RNPC3-2	chr1:103827995-103828355	XLOC_000324

No data

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

Extended variants
information (count: 126 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569427234	chr1:103779214-103779215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192495074	chr1:103779225-103779226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530165117	chr1:103779237-103779238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548252299	chr1:103779254-103779255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28622345	chr1:103779318-103779319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs28391272	chr1:103779371-103779372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28545401	chr1:103779402-103779403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143705781	chr1:103779436-103779437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543471783	chr1:103779437-103779438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28368360	chr1:103779460-103779461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183401504	chr1:103779461-103779462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148043779	chr1:103779465-103779466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566878411	chr1:103779482-103779483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187119197	chr1:103779483-103779484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533199232	chr1:103779522-103779523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28500520	chr1:103779546-103779547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28680898	chr1:103779562-103779563	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552847056	chr1:103779617-103779618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28602711	chr1:103779618-103779619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs28464956	chr1:103779625-103779626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535627836	chr1:103779633-103779634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554148157	chr1:103779639-103779640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77958321	chr1:103779645-103779646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546080541	chr1:103779656-103779657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28645167	chr1:103779689-103779690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144749220	chr1:103779690-103779691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138766735	chr1:103779729-103779730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561808334	chr1:103779749-103779750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79208623	chr1:103779750-103779751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575396033	chr1:103779779-103779780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529487974	chr1:103779799-103779800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541221484	chr1:103779800-103779801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374724764	chr1:103779823-103779824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190023960	chr1:103779853-103779854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182610523	chr1:103779871-103779872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28715362	chr1:103779913-103779914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565207499	chr1:103779914-103779915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186549171	chr1:103779960-103779961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28650465	chr1:103779977-103779978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567752447	chr1:103779992-103779993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373074218	chr1:103913956-103913957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370484358	chr1:103914004-103914005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563491636	chr1:103914016-103914017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531042218	chr1:103914126-103914127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147990333	chr1:103914211-103914212	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141617544	chr1:103914216-103914217	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535635987	chr1:103914257-103914258	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547421572	chr1:103914277-103914278	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534503431	chr1:103914298-103914299	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150080245	chr1:103914355-103914356	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103779200-103780000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:103913800-103914200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103913800-103915400	Enhancers	Adipose Nuclei	Adipose
4	chr1:103914000-103914600	Enhancers	Fetal Heart	heart
5	chr1:103914000-103915400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:103914200-103914600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:103914200-103914600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:103914200-103916200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:103914600-103914800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:103914600-103916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:103914800-103915800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:103915600-103916200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:103915800-103916200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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