Variant report

Variant	nsv1007406
Chromosome Location	chr1:104256868-104326477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:104307250-104307433	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr1:104306952-104307157	HepG2	liver:	n/a	n/a
3	CHD2	chr1:104326467-104326843	GM12878	blood:	n/a	n/a
4	CTCF	chr1:104269777-104269852	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr1:104261416-104261440	GM13976	blood:	n/a	n/a
6	CTCF	chr1:104268948-104268981	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr1:104281777-104281891	Medullo	brain:	n/a	n/a
8	CTCF	chr1:104280841-104280917	Lung_OC	lung:	n/a	n/a
9	CTCF	chr1:104287221-104287290	LNCaP	prostate:	n/a	n/a
10	CTCF	chr1:104265260-104265359	Medullo	brain:	n/a	n/a
11	CTCF	chr1:104301895-104301927	Lung_OC	lung:	n/a	n/a
12	CTCF	chr1:104286636-104286697	Medullo	brain:	n/a	n/a
13	CTCF	chr1:104287206-104287222	GM10266	blood:	n/a	n/a
14	CTCF	chr1:104269755-104269794	Lung_OC	lung:	n/a	n/a
15	CTCF	chr1:104301253-104301273	Lung_OC	lung:	n/a	n/a
16	CTCF	chr1:104287866-104287903	Lung_OC	lung:	n/a	n/a
17	CTCF	chr1:104304440-104304590	WI-38	lung:	n/a	n/a
18	CTCF	chr1:104266764-104266872	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr1:104302993-104303068	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr1:104267949-104268031	Fibrobl	skin:	n/a	n/a
21	CTCF	chr1:104280817-104280941	LNCaP	prostate:	n/a	n/a
22	CTCF	chr1:104267072-104267205	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr1:104287213-104287220	LNCaP	prostate:	n/a	n/a
24	CTCF	chr1:104258408-104258453	Lung_OC	lung:	n/a	n/a
25	CTCF	chr1:104287492-104287555	Medullo	brain:	n/a	n/a
26	CTCF	chr1:104273673-104273802	Medullo	brain:	n/a	n/a
27	CTCF	chr1:104265895-104265911	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr1:104280798-104280920	LNCaP	prostate:	n/a	n/a
29	EBF1	chr1:104293093-104293315	GM12878	blood:	n/a	n/a
30	EBF1	chr1:104322533-104322880	GM12878	blood:	n/a	n/a
31	EBF1	chr1:104293075-104293377	GM12878	blood:	n/a	n/a
32	GATA3	chr1:104312811-104312989	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr1:104317602-104317779	SH-SY5Y	brain:	n/a	n/a
34	HEY1	chr1:104284289-104284537	HepG2	liver:	n/a	n/a
35	MAFK	chr1:104315385-104315618	HepG2	liver:	n/a	n/a
36	MAFK	chr1:104317720-104317847	HepG2	liver:	n/a	n/a
37	MAZ	chr1:104324500-104324690	HepG2	liver:	n/a	n/a
38	PBX3	chr1:104282669-104282926	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:104311169-104311350	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:104320088-104320506	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr1:104280595-104280845	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr1:104259305-104259443	ProgFib	skin:	n/a	n/a
43	POLR2A	chr1:104312243-104312443	MCF10A-Er-Src	breast:	n/a	n/a
44	SIX5	chr1:104295155-104295381	K562	blood:	n/a	n/a
45	SPI1	chr1:104297006-104297227	GM12878	blood:	n/a	n/a
46	SPI1	chr1:104297068-104297197	GM12878	blood:	n/a	n/a
47	SPI1	chr1:104258209-104258478	GM12878	blood:	n/a	n/a
48	SPI1	chr1:104296993-104297195	GM12891	blood:	n/a	n/a
49	SRF	chr1:104298836-104298956	GM12878	blood:	n/a	n/a
50	STAT3	chr1:104322566-104322766	MCF10A-Er-Src	breast:	n/a	chr1:104322587-104322594 chr1:104322708-104322719

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:
2	chr1:104307678..104310486-chr1:104333154..104335185,2	K562	blood:

No data

Variant related genes	Relation type
AMY1C	TF binding region

Extended variants
information (count: 192 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138900324	chr1:104316469-104316470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533112650	chr1:104316477-104316478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551624262	chr1:104316483-104316484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569733507	chr1:104316491-104316492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560815518	chr1:104316536-104316537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116238547	chr1:104316550-104316551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548834870	chr1:104316551-104316552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567251832	chr1:104316557-104316558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141458829	chr1:104316587-104316588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553592586	chr1:104316603-104316604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182631409	chr1:104316622-104316623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571614062	chr1:104316641-104316642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538822434	chr1:104316794-104316795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186741465	chr1:104316800-104316801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575457650	chr1:104316827-104316828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543102210	chr1:104316936-104316937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554804265	chr1:104316981-104316982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528356923	chr1:104317013-104317014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573150231	chr1:104317035-104317036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376472228	chr1:104317036-104317037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115471742	chr1:104317042-104317043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376560693	chr1:104317095-104317096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559658343	chr1:104317133-104317134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533280942	chr1:104317155-104317156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562287674	chr1:104317249-104317250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369960498	chr1:104317305-104317306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563450708	chr1:104317333-104317334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571419168	chr1:104317343-104317344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115570472	chr1:104317360-104317361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150778916	chr1:104317372-104317373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138046183	chr1:104317380-104317381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528046166	chr1:104317424-104317425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190687907	chr1:104317455-104317456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532250735	chr1:104317491-104317492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538921155	chr1:104317508-104317509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557277041	chr1:104317537-104317538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149500809	chr1:104317566-104317567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536454973	chr1:104317571-104317572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551009825	chr1:104317577-104317578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554999298	chr1:104317607-104317608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182994355	chr1:104317659-104317660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569252879	chr1:104317757-104317758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554251544	chr1:104317766-104317767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs604575	chr1:104317783-104317784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577338924	chr1:104317794-104317795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147221123	chr1:104317825-104317826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140562589	chr1:104317829-104317830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555016146	chr1:104317838-104317839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530693308	chr1:104317857-104317858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61814742	chr1:104317871-104317872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
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
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104316400-104317800	Enhancers	Fetal Heart	heart
2	chr1:104317800-104322000	Weak transcription	Fetal Heart	heart
3	chr1:104326200-104327000	Enhancers	GM12878-XiMat	blood

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