Variant report

Variant	nsv946001
Chromosome Location	chr1:77160976-77166442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:77164266-77164461	HepG2	liver:	n/a	chr1:77164405-77164416
2	CTCF	chr1:77165875-77165970	MCF-7	breast:	n/a	n/a
3	CTCF	chr1:77165584-77165663	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:77165640-77165790	GM12864	blood:	n/a	n/a
5	CTCF	chr1:77165544-77165696	GM12891	blood:	n/a	n/a
6	CTCF	chr1:77165520-77165727	ProgFib	skin:	n/a	n/a
7	CTCF	chr1:77165559-77165697	GM19239	blood:	n/a	n/a
8	CTCF	chr1:77165885-77165977	GM12891	blood:	n/a	n/a
9	CTCF	chr1:77165656-77165660	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:77165556-77165674	HepG2	liver:	n/a	n/a
11	CTCF	chr1:77165855-77165948	GM19240	blood:	n/a	n/a
12	CTCF	chr1:77165838-77166006	A549	lung:	n/a	n/a
13	CTCF	chr1:77165853-77165917	ProgFib	skin:	n/a	n/a
14	CTCF	chr1:77162120-77162270	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr1:77165557-77165665	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:77165539-77165689	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:77165550-77165669	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:77165539-77165709	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:77165553-77165700	Gliobla	brain:	n/a	n/a
20	CTCF	chr1:77165531-77165666	K562	blood:	n/a	n/a
21	CTCF	chr1:77165619-77165707	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr1:77165850-77165972	Gliobla	brain:	n/a	n/a
23	CTCF	chr1:77165570-77165703	GM19240	blood:	n/a	n/a
24	CTCF	chr1:77165817-77165944	GM12892	blood:	n/a	n/a
25	CTCF	chr1:77165558-77165651	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr1:77165580-77165730	GM12864	blood:	n/a	n/a
27	CTCF	chr1:77165537-77165693	GM12892	blood:	n/a	n/a
28	CTCF	chr1:77165907-77165969	NHEK	skin:	n/a	n/a
29	CTCF	chr1:77165519-77165698	GM12878	blood:	n/a	n/a
30	CTCF	chr1:77165592-77165651	NHEK	skin:	n/a	n/a
31	CTCF	chr1:77165540-77165690	GM12869	blood:	n/a	n/a
32	CTCF	chr1:77165936-77165949	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:77165531-77165702	GM19238	blood:	n/a	n/a
34	CTCF	chr1:77165603-77165650	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:77165484-77165708	A549	lung:	n/a	n/a
36	CTCF	chr1:77165874-77165989	Fibrobl	skin:	n/a	n/a
37	CTCF	chr1:77165872-77165909	GM19239	blood:	n/a	n/a
38	CTCF	chr1:77165512-77165679	Fibrobl	skin:	n/a	n/a
39	EP300	chr1:77161091-77161907	SK-N-SH	brain:	n/a	n/a
40	GATA2	chr1:77161259-77161554	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr1:77161076-77161684	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr1:77161126-77161737	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr1:77161119-77161645	SK-N-SH	brain:	n/a	n/a
44	HEY1	chr1:77165392-77165553	HepG2	liver:	n/a	n/a
45	HEY1	chr1:77165356-77165624	HepG2	liver:	n/a	n/a
46	HEY1	chr1:77166065-77166508	HepG2	liver:	n/a	n/a
47	HEY1	chr1:77165374-77165553	K562	blood:	n/a	n/a
48	HEY1	chr1:77165241-77166437	K562	blood:	n/a	n/a
49	MYC	chr1:77165955-77166047	MCF-7	breast:	n/a	n/a
50	PAX5	chr1:77165382-77165548	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:77165565-77165615	AG09319	gingival:	n/a
2	chr1:77165604-77165654	HRPEpiC	eye:	n/a
3	chr1:77165565-77165615	HIPEpiC	eye:	n/a
4	chr1:77165461-77165511	GM12891	blood:	n/a
5	chr1:77165461-77165511	GM06990	blood:	n/a
6	chr1:77165461-77165511	HCM	heart:	n/a
7	chr1:77165461-77165511	NT2-D1	testis:	n/a
8	chr1:77165461-77165511	AG09309	skin:	n/a
9	chr1:77165565-77165615	PANC-1	pancreas:	n/a
10	chr1:77165604-77165654	HEEpiC	esophagus:	n/a
11	chr1:77165565-77165615	H1-hESC	embryonic stem cell:	embryo
12	chr1:77165565-77165615	HCPEpiC	choroid plexus:	n/a
13	chr1:77165604-77165654	IMR90	lung:	fetal
14	chr1:77165461-77165511	HMEC	breast:	n/a
15	chr1:77165461-77165511	NHDF-neo	bronchial:	n/a
16	chr1:77165565-77165615	Hepatocyte	liver:	n/a
17	chr1:77165604-77165654	LNCaP	prostate:	n/a
18	chr1:77165565-77165615	A549	lung:	n/a
19	chr1:77165461-77165511	LNCaP	prostate:	n/a
20	chr1:77165461-77165511	HCT-116	colon:	n/a
21	chr1:77165604-77165654	ovcar-3	ovarian:	n/a
22	chr1:77165565-77165615	NB4	blood:	n/a
23	chr1:77165565-77165615	AG04450	lung:	fetal
24	chr1:77165461-77165511	NHBE	bronchial:	n/a
25	chr1:77165604-77165654	PFSK-1	brain:	n/a
26	chr1:77165604-77165654	Jurkat	blood:	n/a
27	chr1:77165461-77165511	HUVEC	blood vessel:	n/a
28	chr1:77165565-77165615	T-47D	breast:	n/a
29	chr1:77165461-77165511	HCF	heart:	n/a
30	chr1:77165604-77165654	HRE	kidney:	n/a
31	chr1:77165461-77165511	HIPEpiC	eye:	n/a
32	chr1:77165461-77165511	GM12878	blood:	n/a
33	chr1:77165461-77165511	SK-N-MC	brain:	n/a
34	chr1:77165604-77165654	SK-N-MC	brain:	n/a
35	chr1:77165565-77165615	HUVEC	blood vessel:	n/a
36	chr1:77165565-77165615	Hela-S3	cervix:	n/a
37	chr1:77165565-77165615	CMK	blood:	n/a
38	chr1:77165565-77165615	GM12891	blood:	n/a
39	chr1:77165565-77165615	HEEpiC	esophagus:	n/a
40	chr1:77165604-77165654	MCF10A-Er-Src	breast:	n/a
41	chr1:77165565-77165615	MCF-7	breast:	n/a
42	chr1:77165604-77165654	HepG2	liver:	n/a
43	chr1:77165604-77165654	CMK	blood:	n/a
44	chr1:77165461-77165511	SKMC	muscle:	n/a
45	chr1:77165604-77165654	Caco-2	colon:	n/a
46	chr1:77165604-77165654	ProgFib	skin:	n/a
47	chr1:77165604-77165654	AG04450	lung:	fetal
48	chr1:77165461-77165511	Jurkat	blood:	n/a
49	chr1:77165461-77165511	Caco-2	colon:	n/a
50	chr1:77165565-77165615	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77160313..77162146-chr1:77164141..77166438,2	K562	blood:

No data

Variant related genes	Relation type
TPI1P1	TF binding region
TPI1P1	CpG island
ENSG00000226415	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143346605	chr1:77161005-77161006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs72995645	chr1:77161093-77161094	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555440028	chr1:77161136-77161137	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573751471	chr1:77161151-77161152	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184039436	chr1:77161160-77161161	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553107922	chr1:77161165-77161166	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs146833006	chr1:77161266-77161267	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572935599	chr1:77161323-77161324	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552914938	chr1:77161330-77161331	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572326755	chr1:77161336-77161337	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140925960	chr1:77161347-77161348	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564366295	chr1:77161521-77161522	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs924296	chr1:77161524-77161525	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144639175	chr1:77161545-77161546	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543588786	chr1:77161555-77161556	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561768226	chr1:77161571-77161572	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77962575	chr1:77161588-77161589	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369944411	chr1:77161602-77161603	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs559055057	chr1:77161622-77161623	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529355882	chr1:77161629-77161630	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533716702	chr1:77161634-77161635	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371954534	chr1:77161688-77161689	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551779434	chr1:77161689-77161690	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570279006	chr1:77161705-77161706	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs138543142	chr1:77161726-77161727	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188478052	chr1:77161750-77161751	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556116	chr1:77161759-77161760	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534766978	chr1:77161831-77161832	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552977947	chr1:77161834-77161835	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs141137575	chr1:77161897-77161898	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs117849347	chr1:77161942-77161943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181081149	chr1:77162059-77162060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184316396	chr1:77162069-77162070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35923359	chr1:77162102-77162103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150387918	chr1:77162103-77162104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs638340	chr1:77162113-77162114	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114276027	chr1:77162114-77162115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74958874	chr1:77162177-77162178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs189297934	chr1:77162179-77162180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs532789902	chr1:77162203-77162204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs182138495	chr1:77162208-77162209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs554108257	chr1:77164278-77164279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs577817371	chr1:77164288-77164289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs540245061	chr1:77164394-77164395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142786911	chr1:77164398-77164399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs202133949	chr1:77164451-77164452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs151025780	chr1:77164453-77164454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs12088479	chr1:77165144-77165145	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549136084	chr1:77165156-77165157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs188433001	chr1:77165161-77165162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77157000-77161200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:77161200-77161400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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