Variant report

Variant	nsv871993
Chromosome Location	chr1:104154934-104342898
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	BATF	chr1:104163710-104163876	GM12878	blood:	n/a	n/a
3	BATF	chr1:104163708-104163856	GM12878	blood:	n/a	n/a
4	BCL11A	chr1:104163692-104163866	GM12878	blood:	n/a	n/a
5	BCL11A	chr1:104163716-104163847	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:104163686-104163884	HepG2	liver:	n/a	n/a
7	BRCA1	chr1:104326501-104326782	GM12878	blood:	n/a	n/a
8	CEBPB	chr1:104307250-104307433	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:104306952-104307157	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:104329336-104329610	HepG2	liver:	n/a	chr1:104329485-104329496 chr1:104329484-104329497
11	CEBPD	chr1:104163704-104163928	K562	blood:	n/a	n/a
12	CHD2	chr1:104326467-104326843	GM12878	blood:	n/a	n/a
13	CHD2	chr1:104326567-104326730	HepG2	liver:	n/a	n/a
14	CTCF	chr1:104228637-104228736	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr1:104193062-104193168	LNCaP	prostate:	n/a	n/a
16	CTCF	chr1:104187456-104187510	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr1:104244735-104244751	Lung_OC	lung:	n/a	n/a
18	CTCF	chr1:104331093-104331284	SK-N-SH_RA	brain:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
19	CTCF	chr1:104331080-104331230	GM12865	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
20	CTCF	chr1:104331096-104331270	H1-hESC	embryonic stem cell:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
21	CTCF	chr1:104287213-104287220	LNCaP	prostate:	n/a	n/a
22	CTCF	chr1:104331180-104331330	GM12878	blood:	n/a	n/a
23	CTCF	chr1:104186690-104186766	LNCaP	prostate:	n/a	n/a
24	CTCF	chr1:104331040-104331190	HRE	kidney:	n/a	chr1:104331174-104331190
25	CTCF	chr1:104331099-104331239	GM10248	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
26	CTCF	chr1:104206422-104206450	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr1:104205944-104206011	Medullo	brain:	n/a	n/a
28	CTCF	chr1:104331131-104331240	HepG2	liver:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
29	CTCF	chr1:104287492-104287555	Medullo	brain:	n/a	n/a
30	CTCF	chr1:104331146-104331231	HUVEC	blood vessel:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
31	CTCF	chr1:104287221-104287290	LNCaP	prostate:	n/a	n/a
32	CTCF	chr1:104331080-104331230	GM12872	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
33	CTCF	chr1:104331097-104331273	A549	lung:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
34	CTCF	chr1:104267072-104267205	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr1:104331080-104331230	GM12864	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
36	CTCF	chr1:104187854-104187909	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr1:104331100-104331250	HRPEpiC	eye:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
38	CTCF	chr1:104340641-104340728	K562	blood:	n/a	n/a
39	CTCF	chr1:104304440-104304590	WI-38	lung:	n/a	n/a
40	CTCF	chr1:104330867-104331498	SK-N-SH	brain:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
41	CTCF	chr1:104331054-104331295	Medullo	brain:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
42	CTCF	chr1:104281777-104281891	Medullo	brain:	n/a	n/a
43	CTCF	chr1:104280798-104280920	LNCaP	prostate:	n/a	n/a
44	CTCF	chr1:104230883-104230996	Medullo	brain:	n/a	n/a
45	CTCF	chr1:104331080-104331230	GM12874	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
46	CTCF	chr1:104331082-104331212	SK-N-SH_RA	brain:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
47	CTCF	chr1:104250422-104250534	LNCaP	prostate:	n/a	n/a
48	CTCF	chr1:104163717-104163816	HepG2	liver:	n/a	n/a
49	CTCF	chr1:104331100-104331390	MCF-7	breast:	n/a	chr1:104331175-104331196 chr1:104331173-104331191 chr1:104331174-104331190
50	CTCF	chr1:104331049-104331327	A549	lung:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:104239696-104239746	HRCEpiC	kidney:	n/a
2	chr1:104160257-104160307	HAEpiC	amniotic membrane:	n/a
3	chr1:104239696-104239746	HCM	heart:	n/a
4	chr1:104160257-104160307	AG04450	lung:	fetal
5	chr1:104160257-104160307	HL-60	blood:	n/a
6	chr1:104239696-104239746	LNCaP	prostate:	n/a
7	chr1:104239696-104239746	PFSK-1	brain:	n/a
8	chr1:104239696-104239746	GM12891	blood:	n/a
9	chr1:104239696-104239746	HepG2	liver:	n/a
10	chr1:104160257-104160307	H1-hESC	embryonic stem cell:	embryo
11	chr1:104239696-104239746	ECC-1	luminal epithelium:	n/a
12	chr1:104160257-104160307	BE2_C	brain:	n/a
13	chr1:104239696-104239746	SK-N-SH	brain:	n/a
14	chr1:104160257-104160307	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:104160257-104160307	AG10803	skin:	n/a
16	chr1:104160257-104160307	RPTEC	kidney:	n/a
17	chr1:104239696-104239746	AG10803	skin:	n/a
18	chr1:104160257-104160307	A549	lung:	n/a
19	chr1:104239696-104239746	HEEpiC	esophagus:	n/a
20	chr1:104160257-104160307	HEEpiC	esophagus:	n/a
21	chr1:104239696-104239746	A549	lung:	n/a
22	chr1:104160257-104160307	HepG2	liver:	n/a
23	chr1:104239696-104239746	MCF10A-Er-Src	breast:	n/a
24	chr1:104160257-104160307	ovcar-3	ovarian:	n/a
25	chr1:104239696-104239746	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:104239696-104239746	U87	brain:	n/a
27	chr1:104160257-104160307	AG09309	skin:	n/a
28	chr1:104160257-104160307	SK-N-SH_RA	brain:	n/a
29	chr1:104239696-104239746	PANC-1	pancreas:	n/a
30	chr1:104239696-104239746	ovcar-3	ovarian:	n/a
31	chr1:104160257-104160307	NB4	blood:	n/a
32	chr1:104239696-104239746	T-47D	breast:	n/a
33	chr1:104160257-104160307	HCM	heart:	n/a
34	chr1:104160257-104160307	ECC-1	luminal epithelium:	n/a
35	chr1:104239696-104239746	AG04449	skin:	fetal
36	chr1:104239696-104239746	HUVEC	blood vessel:	n/a
37	chr1:104160257-104160307	HUVEC	blood vessel:	n/a
38	chr1:104239696-104239746	GM12878	blood:	n/a
39	chr1:104239696-104239746	SK-N-MC	brain:	n/a
40	chr1:104160257-104160307	AG04449	skin:	fetal
41	chr1:104160257-104160307	MCF10A-Er-Src	breast:	n/a
42	chr1:104160257-104160307	GM12892	blood:	n/a
43	chr1:104239696-104239746	ProgFib	skin:	n/a
44	chr1:104160257-104160307	HIPEpiC	eye:	n/a
45	chr1:104160257-104160307	Jurkat	blood:	n/a
46	chr1:104239696-104239746	GM12892	blood:	n/a
47	chr1:104239696-104239746	CMK	blood:	n/a
48	chr1:104160257-104160307	K562	blood:	n/a
49	chr1:104239696-104239746	AG09319	gingival:	n/a
50	chr1:104160257-104160307	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:104307678..104310486-chr1:104333154..104335185,2	K562	blood:
2	chr1:104330211..104331667-chr1:104674701..104675769,4	MCF-7	breast:
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	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:

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

Extended variants
information (count: 418 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:418 , 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	rs554756025	chr1:104156228-104156229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs573096525	chr1:104156237-104156238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs151109581	chr1:104156251-104156252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558602654	chr1:104156267-104156268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs114850569	chr1:104156304-104156305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs140946193	chr1:104156312-104156313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556630922	chr1:104156343-104156344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562381743	chr1:104156356-104156357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs530285601	chr1:104156357-104156358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574970529	chr1:104156363-104156364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560283116	chr1:104156367-104156368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531754282	chr1:104156494-104156495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550109335	chr1:104156498-104156499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs568468309	chr1:104156524-104156525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs36011126	chr1:104158009-104158010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574140088	chr1:104158055-104158056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150717416	chr1:104158062-104158063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs453955	chr1:104158071-104158072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559750549	chr1:104158072-104158073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533160755	chr1:104158075-104158076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545415475	chr1:104158081-104158082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375496641	chr1:104158106-104158107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139241069	chr1:104158122-104158123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531672475	chr1:104158177-104158178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549524425	chr1:104158182-104158183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374072196	chr1:104158216-104158217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142439658	chr1:104158235-104158236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190212203	chr1:104158257-104158258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565800734	chr1:104158258-104158259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539041025	chr1:104158261-104158262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557780559	chr1:104158272-104158273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369300105	chr1:104158290-104158291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371881329	chr1:104158295-104158296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564663469	chr1:104158304-104158305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537748116	chr1:104158310-104158311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555948924	chr1:104158380-104158381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574301307	chr1:104158389-104158390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541682357	chr1:104158437-104158438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553172776	chr1:104158474-104158475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578085802	chr1:104158483-104158484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545065567	chr1:104158535-104158536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563710361	chr1:104158593-104158594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576212118	chr1:104158597-104158598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79408264	chr1:104158598-104158599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181715651	chr1:104158603-104158604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183910906	chr1:104158605-104158606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375753274	chr1:104158623-104158624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146373581	chr1:104158648-104158649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563531968	chr1:104158681-104158682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373370481	chr1:104158682-104158683	Weak transcription	n/a	n/a	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104158000-104158200	Enhancers	Pancreas	Pancrea
2	chr1:104158200-104159200	Weak transcription	Pancreas	Pancrea
3	chr1:104159200-104160000	Enhancers	Pancreas	Pancrea
4	chr1:104160800-104161400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:104316400-104317800	Enhancers	Fetal Heart	heart
6	chr1:104317800-104322000	Weak transcription	Fetal Heart	heart
7	chr1:104326200-104327000	Enhancers	GM12878-XiMat	blood

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