Variant report

Variant	nsv521661
Chromosome Location	chr1:77197018-77214000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:77204024-77204337	HepG2	liver:	n/a	n/a
2	BHLHE40	chr1:77203965-77204428	HepG2	liver:	n/a	n/a
3	BHLHE40	chr1:77204025-77204356	HepG2	liver:	n/a	n/a
4	BHLHE40	chr1:77204062-77204316	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:77204028-77204208	HepG2	liver:	n/a	chr1:77204135-77204146
6	CEBPB	chr1:77203969-77204331	HepG2	liver:	n/a	chr1:77204135-77204146
7	CEBPB	chr1:77204029-77204335	HepG2	liver:	n/a	chr1:77204135-77204146
8	CTCF	chr1:77206720-77206870	BE2_C	brain:	n/a	n/a
9	CTCF	chr1:77206660-77206810	AG09319	gingival:	n/a	n/a
10	CTCF	chr1:77206720-77206870	RPTEC	kidney:	n/a	n/a
11	CTCF	chr1:77206746-77206824	GM12878	blood:	n/a	n/a
12	CTCF	chr1:77206700-77206850	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr1:77206565-77207092	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr1:77206637-77206831	GM12878	blood:	n/a	n/a
15	CTCF	chr1:77206700-77206850	Caco-2	colon:	n/a	n/a
16	CTCF	chr1:77206735-77206833	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr1:77206743-77206844	LNCaP	prostate:	n/a	n/a
18	CTCF	chr1:77206778-77206806	GM19240	blood:	n/a	n/a
19	CTCF	chr1:77206654-77206851	HepG2	liver:	n/a	n/a
20	CTCF	chr1:77206656-77206907	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:77206658-77206899	MCF-7	breast:	n/a	n/a
22	CTCF	chr1:77206720-77206870	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:77206720-77206870	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr1:77206660-77206810	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr1:77206700-77206850	HepG2	liver:	n/a	n/a
26	CTCF	chr1:77211520-77211670	GM12873	blood:	n/a	n/a
27	CTCF	chr1:77206648-77206898	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:77206726-77206865	A549	lung:	n/a	n/a
29	CTCF	chr1:77206700-77206850	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr1:77206660-77206810	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr1:77206697-77206874	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:77206760-77206910	GM12865	blood:	n/a	n/a
33	CTCF	chr1:77206760-77206910	GM12875	blood:	n/a	n/a
34	CTCF	chr1:77206680-77206830	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:77206720-77206870	GM12865	blood:	n/a	n/a
36	CTCF	chr1:77206660-77206810	GM12878	blood:	n/a	n/a
37	CTCF	chr1:77206720-77206870	HCT-116	colon:	n/a	n/a
38	CTCF	chr1:77206701-77206868	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr1:77206711-77206810	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr1:77206673-77206892	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:77206729-77206867	Fibrobl	skin:	n/a	n/a
42	CTCF	chr1:77206720-77206870	HEK293	kidney:	n/a	n/a
43	CTCF	chr1:77206720-77206870	GM06990	blood:	n/a	n/a
44	CTCF	chr1:77206640-77206790	GM12869	blood:	n/a	n/a
45	CTCF	chr1:77206750-77206825	Gliobla	brain:	n/a	n/a
46	CTCF	chr1:77206767-77206808	GM12891	blood:	n/a	n/a
47	CTCF	chr1:77206733-77206833	GM12892	blood:	n/a	n/a
48	CTCF	chr1:77206686-77206896	HepG2	liver:	n/a	n/a
49	CTCF	chr1:77206700-77206850	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr1:77206695-77206858	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76796528..76797295-chr1:77206308..77207068,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-161P	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11799891	chr1:77197018-77197019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371020255	chr1:77197046-77197047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554675174	chr1:77197087-77197088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572833679	chr1:77197113-77197114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191933417	chr1:77197121-77197122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77034278	chr1:77197146-77197147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576862989	chr1:77197181-77197182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544933476	chr1:77197207-77197208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs511882	chr1:77197219-77197220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs184105275	chr1:77197270-77197271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542036651	chr1:77197289-77197290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536063192	chr1:77197312-77197313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200810653	chr1:77197314-77197315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188454344	chr1:77197329-77197330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145862625	chr1:77197357-77197358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1391554	chr1:77197381-77197382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370725271	chr1:77197424-77197425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537205011	chr1:77197435-77197436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191458734	chr1:77197449-77197450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544835163	chr1:77197490-77197491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559939629	chr1:77197492-77197493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569034341	chr1:77197493-77197494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536479572	chr1:77197516-77197517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373234174	chr1:77197517-77197518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148997085	chr1:77197523-77197524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566609686	chr1:77197524-77197525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372606192	chr1:77211405-77211406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556953206	chr1:77211446-77211447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575311195	chr1:77211495-77211496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2133180	chr1:77211566-77211567	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560807428	chr1:77211568-77211569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs572924792	chr1:77211587-77211588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs115181159	chr1:77211588-77211589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565106110	chr1:77211592-77211593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532267073	chr1:77211593-77211594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190666028	chr1:77211595-77211596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376050196	chr1:77211598-77211599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs562488879	chr1:77211626-77211627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530805148	chr1:77211651-77211652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs368913008	chr1:77211655-77211656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548999334	chr1:77211656-77211657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs150350435	chr1:77211663-77211664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs2133181	chr1:77211695-77211696	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117849601	chr1:77211700-77211701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571817743	chr1:77211707-77211708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs2133182	chr1:77211709-77211710	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377213338	chr1:77211745-77211746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557681135	chr1:77211870-77211871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184108195	chr1:77211888-77211889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188711763	chr1:77211906-77211907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77197000-77197600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr1:77211400-77212000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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