Variant report

Variant	nsv1013167
Chromosome Location	chr1:104130387-104446555
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	ARID3A	chr1:104332136-104332202	HepG2	liver:	n/a	n/a
2	ATF1	chr1:104435470-104435596	K562	blood:	n/a	n/a
3	BATF	chr1:104163710-104163876	GM12878	blood:	n/a	n/a
4	BATF	chr1:104163708-104163856	GM12878	blood:	n/a	n/a
5	BCL11A	chr1:104163692-104163866	GM12878	blood:	n/a	n/a
6	BCL11A	chr1:104163716-104163847	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:104163686-104163884	HepG2	liver:	n/a	n/a
8	BRCA1	chr1:104326501-104326782	GM12878	blood:	n/a	n/a
9	CEBPB	chr1:104433013-104433213	A549	lung:	n/a	chr1:104433036-104433047
10	CEBPB	chr1:104306952-104307157	HepG2	liver:	n/a	n/a
11	CEBPB	chr1:104432982-104433095	H1-hESC	embryonic stem cell:	n/a	chr1:104433036-104433047
12	CEBPB	chr1:104432921-104433126	K562	blood:	n/a	chr1:104433036-104433047
13	CEBPB	chr1:104388549-104388858	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:104329336-104329610	HepG2	liver:	n/a	chr1:104329485-104329496 chr1:104329484-104329497
15	CEBPB	chr1:104432920-104433205	IMR90	lung:	n/a	chr1:104433036-104433047
16	CEBPB	chr1:104432910-104433274	HepG2	liver:	n/a	chr1:104433036-104433047
17	CEBPB	chr1:104386981-104387251	HepG2	liver:	n/a	chr1:104387108-104387119
18	CEBPB	chr1:104307250-104307433	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPD	chr1:104163704-104163928	K562	blood:	n/a	n/a
20	CHD2	chr1:104326467-104326843	GM12878	blood:	n/a	n/a
21	CHD2	chr1:104326567-104326730	HepG2	liver:	n/a	n/a
22	CTCF	chr1:104250422-104250534	LNCaP	prostate:	n/a	n/a
23	CTCF	chr1:104187456-104187510	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr1:104130700-104130850	NHEK	skin:	n/a	n/a
25	CTCF	chr1:104145192-104145310	ProgFib	skin:	n/a	n/a
26	CTCF	chr1:104266764-104266872	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr1:104178569-104178637	Lung_OC	lung:	n/a	n/a
28	CTCF	chr1:104330875-104331504	A549	lung:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
29	CTCF	chr1:104244756-104244780	Lung_OC	lung:	n/a	n/a
30	CTCF	chr1:104209836-104209915	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr1:104304440-104304590	WI-38	lung:	n/a	n/a
32	CTCF	chr1:104331060-104331210	NHEK	skin:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
33	CTCF	chr1:104287866-104287903	Lung_OC	lung:	n/a	n/a
34	CTCF	chr1:104331180-104331330	GM12878	blood:	n/a	n/a
35	CTCF	chr1:104280798-104280920	LNCaP	prostate:	n/a	n/a
36	CTCF	chr1:104287213-104287220	LNCaP	prostate:	n/a	n/a
37	CTCF	chr1:104130740-104130890	K562	blood:	n/a	n/a
38	CTCF	chr1:104230883-104230996	Medullo	brain:	n/a	n/a
39	CTCF	chr1:104130803-104130834	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:104331100-104331250	HL-60	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
41	CTCF	chr1:104281777-104281891	Medullo	brain:	n/a	n/a
42	CTCF	chr1:104331100-104331250	HMEC	breast:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
43	CTCF	chr1:104331096-104331270	H1-hESC	embryonic stem cell:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
44	CTCF	chr1:104331024-104331344	IMR90	lung:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
45	CTCF	chr1:104331160-104331221	K562	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
46	CTCF	chr1:104331054-104331295	Medullo	brain:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
47	CTCF	chr1:104130760-104130910	BE2_C	brain:	n/a	n/a
48	CTCF	chr1:104331128-104331338	K562	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
49	CTCF	chr1:104330978-104331377	GM12878	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
50	CTCF	chr1:104231384-104231389	Spleen_OC	spleen:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:104160257-104160307	HNPCEpiC	eye:	n/a
2	chr1:104239696-104239746	RPTEC	kidney:	n/a
3	chr1:104160257-104160307	SAEC	small airway:	n/a
4	chr1:104160257-104160307	HCM	heart:	n/a
5	chr1:104160257-104160307	HCT-116	colon:	n/a
6	chr1:104239696-104239746	GM12878	blood:	n/a
7	chr1:104160257-104160307	BJ	skin:	n/a
8	chr1:104239696-104239746	ProgFib	skin:	n/a
9	chr1:104239696-104239746	T-47D	breast:	n/a
10	chr1:104160257-104160307	Hela-S3	cervix:	n/a
11	chr1:104160257-104160307	GM12892	blood:	n/a
12	chr1:104160257-104160307	HepG2	liver:	n/a
13	chr1:104160257-104160307	HMEC	breast:	n/a
14	chr1:104239696-104239746	Jurkat	blood:	n/a
15	chr1:104239696-104239746	NHDF-neo	bronchial:	n/a
16	chr1:104160257-104160307	AG10803	skin:	n/a
17	chr1:104160257-104160307	ProgFib	skin:	n/a
18	chr1:104239696-104239746	SK-N-SH	brain:	n/a
19	chr1:104239696-104239746	HRE	kidney:	n/a
20	chr1:104160257-104160307	Caco-2	colon:	n/a
21	chr1:104239696-104239746	CMK	blood:	n/a
22	chr1:104239696-104239746	AG09309	skin:	n/a
23	chr1:104160257-104160307	HAEpiC	amniotic membrane:	n/a
24	chr1:104239696-104239746	HCF	heart:	n/a
25	chr1:104160257-104160307	PANC-1	pancreas:	n/a
26	chr1:104239696-104239746	HRCEpiC	kidney:	n/a
27	chr1:104239696-104239746	BJ	skin:	n/a
28	chr1:104239696-104239746	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:104160257-104160307	Jurkat	blood:	n/a
30	chr1:104160257-104160307	HCPEpiC	choroid plexus:	n/a
31	chr1:104239696-104239746	GM19239	blood:	n/a
32	chr1:104160257-104160307	HIPEpiC	eye:	n/a
33	chr1:104239696-104239746	AG10803	skin:	n/a
34	chr1:104160257-104160307	CMK	blood:	n/a
35	chr1:104160257-104160307	AG04450	lung:	fetal
36	chr1:104239696-104239746	HNPCEpiC	eye:	n/a
37	chr1:104239696-104239746	MCF10A-Er-Src	breast:	n/a
38	chr1:104160257-104160307	HEK293	kidney:	embryo
39	chr1:104239696-104239746	NT2-D1	testis:	n/a
40	chr1:104239696-104239746	AoSMC	blood vessel:	n/a
41	chr1:104239696-104239746	AG09319	gingival:	n/a
42	chr1:104239696-104239746	Hela-S3	cervix:	n/a
43	chr1:104239696-104239746	HepG2	liver:	n/a
44	chr1:104239696-104239746	ovcar-3	ovarian:	n/a
45	chr1:104239696-104239746	GM06990	blood:	n/a
46	chr1:104239696-104239746	GM12891	blood:	n/a
47	chr1:104160257-104160307	LNCaP	prostate:	n/a
48	chr1:104160257-104160307	HRPEpiC	eye:	n/a
49	chr1:104160257-104160307	GM12878	blood:	n/a
50	chr1:104239696-104239746	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:
2	chr1:104120354..104123298-chr1:104128850..104131166,2	K562	blood:
3	chr1:104330809..104331725-chr1:104675161..104675727,2	MCF-7	breast:
4	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:
5	chr1:104307678..104310486-chr1:104333154..104335185,2	K562	blood:
6	chr1:104307678..104310486-chr1:104333154..104335185,2	K562	blood:
7	chr1:104330211..104331667-chr1:104674701..104675769,4	MCF-7	breast:

Variant related genes	Relation type
AMY1C	TF binding region
AMY1A	TF binding region
AMY1B	TF binding region
ENSG00000234441	TF binding region
AMY2A	TF binding region
AMYP1	TF binding region
AMY1C	CpG island
AMY1A	CpG island
AMY1B	CpG island
ENSG00000234441	CpG island
AMY2A	CpG island
AMYP1	CpG island

Extended variants
information (count: 830 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573033027	chr1:104130416-104130417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540556974	chr1:104130425-104130426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534018581	chr1:104130472-104130473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192110996	chr1:104130500-104130501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375874260	chr1:104130506-104130507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557808123	chr1:104130548-104130549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565041666	chr1:104130566-104130567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577135047	chr1:104130700-104130701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544280450	chr1:104130706-104130707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562583219	chr1:104130749-104130750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369197520	chr1:104130750-104130751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529841419	chr1:104130759-104130760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116839536	chr1:104130812-104130813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114023658	chr1:104130827-104130828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527943639	chr1:104130836-104130837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149565464	chr1:104130863-104130864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182166669	chr1:104130868-104130869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72694413	chr1:104130898-104130899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550002588	chr1:104130937-104130938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568212810	chr1:104130970-104130971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140098428	chr1:104131053-104131054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553865312	chr1:104131073-104131074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187653030	chr1:104131101-104131102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28773198	chr1:104131103-104131104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142023082	chr1:104131104-104131105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558897820	chr1:104131138-104131139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577075121	chr1:104131161-104131162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536928973	chr1:104131162-104131163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544414660	chr1:104131164-104131165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555660612	chr1:104131212-104131213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562697866	chr1:104131213-104131214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551455835	chr1:104131234-104131235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112269554	chr1:104131272-104131273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574431581	chr1:104131309-104131310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541922981	chr1:104131338-104131339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114922930	chr1:104131457-104131458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559376388	chr1:104131556-104131557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190614584	chr1:104131574-104131575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183123798	chr1:104131596-104131597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554756025	chr1:104156228-104156229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs573096525	chr1:104156237-104156238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs151109581	chr1:104156251-104156252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558602654	chr1:104156267-104156268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs114850569	chr1:104156304-104156305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs140946193	chr1:104156312-104156313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556630922	chr1:104156343-104156344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs562381743	chr1:104156356-104156357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530285601	chr1:104156357-104156358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs574970529	chr1:104156363-104156364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs560283116	chr1:104156367-104156368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104113600-104130800	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:104123400-104131000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:104131000-104131600	Enhancers	Adipose Nuclei	Adipose
4	chr1:104158000-104158200	Enhancers	Pancreas	Pancrea
5	chr1:104158200-104159200	Weak transcription	Pancreas	Pancrea
6	chr1:104159200-104160000	Enhancers	Pancreas	Pancrea
7	chr1:104160800-104161400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:104316400-104317800	Enhancers	Fetal Heart	heart
9	chr1:104317800-104322000	Weak transcription	Fetal Heart	heart
10	chr1:104326200-104327000	Enhancers	GM12878-XiMat	blood
11	chr1:104360000-104360400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:104360200-104360600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:104369800-104370200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:104369800-104370200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr1:104373200-104373600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:104377600-104378400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:104430400-104431200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:104430600-104431200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:104430800-104431200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:104438600-104439200	Enhancers	Fetal Heart	heart
21	chr1:104439200-104441400	Weak transcription	Fetal Heart	heart
22	chr1:104441400-104442000	Enhancers	Fetal Heart	heart
23	chr1:104442000-104442800	Weak transcription	Fetal Heart	heart
24	chr1:104442400-104443000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:104442800-104444200	Enhancers	Fetal Heart	heart
26	chr1:104443000-104444400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:104444200-104444600	Flanking Active TSS	Fetal Heart	heart
28	chr1:104444400-104444600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:104444600-104444800	Enhancers	Fetal Heart	heart
30	chr1:104444600-104445000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:104445000-104445400	Enhancers	Skeletal Muscle Female	skeletal muscle

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