Variant report

Variant	nsv871983
Chromosome Location	chr1:104128773-104381824
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	chr1:104163708-104163856	GM12878	blood:	n/a	n/a
3	BATF	chr1:104163710-104163876	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	chr1:104128801-104129380	HepG2	liver:	n/a	chr1:104128959-104128968 chr1:104128959-104128968 chr1:104128959-104128968 chr1:104128957-104128970
9	CEBPB	chr1:104306952-104307157	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:104307250-104307433	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr1:104329336-104329610	HepG2	liver:	n/a	chr1:104329485-104329496 chr1:104329484-104329497
12	CEBPD	chr1:104163704-104163928	K562	blood:	n/a	n/a
13	CHD2	chr1:104326467-104326843	GM12878	blood:	n/a	n/a
14	CHD2	chr1:104326567-104326730	HepG2	liver:	n/a	n/a
15	CTCF	chr1:104212526-104212596	ProgFib	skin:	n/a	n/a
16	CTCF	chr1:104331140-104331290	HCPEpiC	choroid plexus:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
17	CTCF	chr1:104331080-104331230	GM12874	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
18	CTCF	chr1:104227242-104227344	LNCaP	prostate:	n/a	n/a
19	CTCF	chr1:104227489-104227548	LNCaP	prostate:	n/a	n/a
20	CTCF	chr1:104331080-104331230	GM12864	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
21	CTCF	chr1:104331140-104331290	HMEC	breast:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
22	CTCF	chr1:104331120-104331270	RPTEC	kidney:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
23	CTCF	chr1:104331095-104331246	GM10266	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
24	CTCF	chr1:104265260-104265359	Medullo	brain:	n/a	n/a
25	CTCF	chr1:104331140-104331290	HEEpiC	esophagus:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
26	CTCF	chr1:104331080-104331230	GM12872	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
27	CTCF	chr1:104286636-104286697	Medullo	brain:	n/a	n/a
28	CTCF	chr1:104280841-104280917	Lung_OC	lung:	n/a	n/a
29	CTCF	chr1:104331131-104331240	HepG2	liver:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
30	CTCF	chr1:104331080-104331230	HRPEpiC	eye:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
31	CTCF	chr1:104154482-104154570	GM20000	blood:	n/a	n/a
32	CTCF	chr1:104331014-104331351	HepG2	liver:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
33	CTCF	chr1:104273673-104273802	Medullo	brain:	n/a	n/a
34	CTCF	chr1:104331049-104331327	A549	lung:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
35	CTCF	chr1:104250422-104250534	LNCaP	prostate:	n/a	n/a
36	CTCF	chr1:104186669-104186788	Lung_OC	lung:	n/a	n/a
37	CTCF	chr1:104302993-104303068	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr1:104331140-104331290	HMF	breast:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
39	CTCF	chr1:104304440-104304590	WI-38	lung:	n/a	n/a
40	CTCF	chr1:104331097-104331273	A549	lung:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
41	CTCF	chr1:104231341-104231381	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr1:104331100-104331250	HRPEpiC	eye:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
43	CTCF	chr1:104331100-104331250	HL-60	blood:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
44	CTCF	chr1:104223571-104223629	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr1:104331180-104331330	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr1:104266764-104266872	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr1:104130772-104130839	K562	blood:	n/a	n/a
48	CTCF	chr1:104331100-104331250	HEK293	kidney:	n/a	chr1:104331174-104331190 chr1:104331173-104331191 chr1:104331175-104331196
49	CTCF	chr1:104159439-104159464	ProgFib	skin:	n/a	n/a
50	CTCF	chr1:104130720-104130870	SAEC	small airway:	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	U87	brain:	n/a
3	chr1:104160257-104160307	GM06990	blood:	n/a
4	chr1:104239696-104239746	GM12878	blood:	n/a
5	chr1:104160257-104160307	MCF-7	breast:	n/a
6	chr1:104160257-104160307	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:104160257-104160307	NHDF-neo	bronchial:	n/a
8	chr1:104239696-104239746	IMR90	lung:	fetal
9	chr1:104239696-104239746	Caco-2	colon:	n/a
10	chr1:104239696-104239746	Jurkat	blood:	n/a
11	chr1:104160257-104160307	HRPEpiC	eye:	n/a
12	chr1:104160257-104160307	AoSMC	blood vessel:	n/a
13	chr1:104239696-104239746	T-47D	breast:	n/a
14	chr1:104239696-104239746	SKMC	muscle:	n/a
15	chr1:104239696-104239746	PANC-1	pancreas:	n/a
16	chr1:104239696-104239746	MCF10A-Er-Src	breast:	n/a
17	chr1:104239696-104239746	NH-A	brain:	n/a
18	chr1:104160257-104160307	HCT-116	colon:	n/a
19	chr1:104160257-104160307	NH-A	brain:	n/a
20	chr1:104160257-104160307	ProgFib	skin:	n/a
21	chr1:104239696-104239746	RPTEC	kidney:	n/a
22	chr1:104239696-104239746	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:104239696-104239746	HEK293	kidney:	embryo
24	chr1:104160257-104160307	HIPEpiC	eye:	n/a
25	chr1:104160257-104160307	PrEC	prostate:	n/a
26	chr1:104239696-104239746	PrEC	prostate:	n/a
27	chr1:104160257-104160307	Caco-2	colon:	n/a
28	chr1:104239696-104239746	AoSMC	blood vessel:	n/a
29	chr1:104160257-104160307	HL-60	blood:	n/a
30	chr1:104160257-104160307	CMK	blood:	n/a
31	chr1:104239696-104239746	HL-60	blood:	n/a
32	chr1:104239696-104239746	BJ	skin:	n/a
33	chr1:104239696-104239746	HCM	heart:	n/a
34	chr1:104160257-104160307	AG04450	lung:	fetal
35	chr1:104239696-104239746	NHDF-neo	bronchial:	n/a
36	chr1:104239696-104239746	LNCaP	prostate:	n/a
37	chr1:104160257-104160307	T-47D	breast:	n/a
38	chr1:104160257-104160307	Hela-S3	cervix:	n/a
39	chr1:104239696-104239746	HAEpiC	amniotic membrane:	n/a
40	chr1:104160257-104160307	GM12891	blood:	n/a
41	chr1:104239696-104239746	A549	lung:	n/a
42	chr1:104160257-104160307	SK-N-MC	brain:	n/a
43	chr1:104239696-104239746	SAEC	small airway:	n/a
44	chr1:104239696-104239746	NHBE	bronchial:	n/a
45	chr1:104239696-104239746	HRE	kidney:	n/a
46	chr1:104160257-104160307	K562	blood:	n/a
47	chr1:104160257-104160307	HAEpiC	amniotic membrane:	n/a
48	chr1:104160257-104160307	IMR90	lung:	fetal
49	chr1:104239696-104239746	AG10803	skin:	n/a
50	chr1:104239696-104239746	HUVEC	blood vessel:	n/a

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

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: 630 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17014930	chr1:104128773-104128774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538647284	chr1:104128785-104128786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557038311	chr1:104128815-104128816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576005983	chr1:104128843-104128844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536975348	chr1:104128870-104128871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555130156	chr1:104128878-104128879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573375757	chr1:104128963-104128964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375581716	chr1:104128967-104128968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558790517	chr1:104128972-104128973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576961857	chr1:104128986-104128987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193120870	chr1:104128994-104128995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562568596	chr1:104129027-104129028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530698180	chr1:104129068-104129069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2873038	chr1:104129083-104129084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561820	chr1:104129087-104129088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115109381	chr1:104129090-104129091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562769	chr1:104129186-104129187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34799366	chr1:104129187-104129188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561108984	chr1:104129190-104129191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57882110	chr1:104129197-104129198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528276839	chr1:104129199-104129200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150488987	chr1:104129233-104129234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6679172	chr1:104129242-104129243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199808464	chr1:104129273-104129274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143846926	chr1:104129274-104129275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563036	chr1:104129282-104129283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571245359	chr1:104129319-104129320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532294213	chr1:104129435-104129436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550574352	chr1:104129463-104129464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531129585	chr1:104129510-104129511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536914194	chr1:104129512-104129513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372372812	chr1:104129574-104129575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115360347	chr1:104129594-104129595	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs567738589	chr1:104129604-104129605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567011255	chr1:104129633-104129634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185089021	chr1:104129634-104129635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559150916	chr1:104129651-104129652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567373	chr1:104129699-104129700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535270391	chr1:104129703-104129704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555665	chr1:104129737-104129738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547504344	chr1:104129751-104129752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576903059	chr1:104129759-104129760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111462452	chr1:104129765-104129766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188971011	chr1:104129769-104129770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556403	chr1:104129772-104129773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533214	chr1:104129787-104129788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574515003	chr1:104129806-104129807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559753480	chr1:104129870-104129871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561036544	chr1:104129875-104129876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557287	chr1:104129880-104129881	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:16 , 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

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