Variant report

Variant	nsv516750
Chromosome Location	chr1:56728246-56731680
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	BHLHE40	chr1:56729645-56729813	GM12878	blood:	n/a	n/a
2	CEBPB	chr1:56731482-56731712	HepG2	liver:	n/a	chr1:56731516-56731529
3	HNF4A	chr1:56731507-56731738	HepG2	liver:	n/a	chr1:56731613-56731628
4	NFYB	chr1:56731434-56731688	GM12878	blood:	n/a	n/a
5	RUNX3	chr1:56730885-56731285	GM12878	blood:	n/a	n/a
6	SPI1	chr1:56729800-56730227	HL-60	blood:	n/a	n/a
7	SPI1	chr1:56730927-56731360	HL-60	blood:	n/a	chr1:56731164-56731177
8	SPI1	chr1:56731025-56731252	GM12878	blood:	n/a	chr1:56731164-56731177
9	USF1	chr1:56729637-56729914	HCT-116	colon:	n/a	n/a
10	USF2	chr1:56729659-56729855	GM12878	blood:	n/a	chr1:56729792-56729803
11	USF2	chr1:56730540-56730584	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr1:56729718-56729839	Hela-S3	cervix:	n/a	chr1:56729792-56729803
13	USF2	chr1:56729775-56729783	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56724876..56727299-chr1:56729656..56732190,2	K562	blood:

Variant related genes	Relation type
ENSG00000260971	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2793664	chr1:56728246-56728247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs55742346	chr1:56728251-56728252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546947238	chr1:56728276-56728277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567129098	chr1:56728279-56728280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12038352	chr1:56728324-56728325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530471817	chr1:56728325-56728326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568921824	chr1:56728380-56728381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537894649	chr1:56728400-56728401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56022955	chr1:56728420-56728421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550165992	chr1:56728449-56728450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574512893	chr1:56728554-56728555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540444437	chr1:56728633-56728634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187037902	chr1:56728636-56728637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76439183	chr1:56728643-56728644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1341340	chr1:56728650-56728651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553163739	chr1:56728666-56728667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564888456	chr1:56728677-56728678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530821323	chr1:56728696-56728697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544264346	chr1:56728739-56728740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190306219	chr1:56728741-56728742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56237067	chr1:56728758-56728759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547154017	chr1:56728799-56728800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566998178	chr1:56728812-56728813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377744235	chr1:56728827-56728828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532840908	chr1:56728841-56728842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535785682	chr1:56728842-56728843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556976373	chr1:56728843-56728844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575030883	chr1:56728859-56728860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114947893	chr1:56728972-56728973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55789605	chr1:56729019-56729020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575268662	chr1:56729045-56729046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554678023	chr1:56729087-56729088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568125381	chr1:56729103-56729104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59252704	chr1:56729137-56729138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567185495	chr1:56729243-56729244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545829518	chr1:56729279-56729280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146837144	chr1:56729280-56729281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576967345	chr1:56729300-56729301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139312367	chr1:56729406-56729407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114098131	chr1:56729409-56729410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149012669	chr1:56729433-56729434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182869072	chr1:56729464-56729465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188813699	chr1:56729486-56729487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77758138	chr1:56729491-56729492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553315113	chr1:56729492-56729493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574869002	chr1:56729498-56729499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540419988	chr1:56729537-56729538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573002657	chr1:56729558-56729559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193061907	chr1:56729570-56729571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552870736	chr1:56729580-56729581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56721800-56730000	Weak transcription	Ovary	ovary
2	chr1:56725000-56730000	Weak transcription	Psoas Muscle	Psoas
3	chr1:56726400-56732400	Weak transcription	Left Ventricle	heart
4	chr1:56726600-56733400	Weak transcription	Placenta	Placenta
5	chr1:56728000-56731400	Weak transcription	HepG2	liver
6	chr1:56730000-56730200	Enhancers	Ovary	ovary
7	chr1:56730000-56730200	Enhancers	Psoas Muscle	Psoas
8	chr1:56731400-56731800	Enhancers	HepG2	liver

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