Variant report

Variant	nsv946407
Chromosome Location	chr1:154335633-154351712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:154338507-154338845	K562	blood:	n/a	n/a
2	ATF1	chr1:154338627-154338764	K562	blood:	n/a	n/a
3	CBX3	chr1:154343959-154344430	K562	blood:	n/a	n/a
4	CEBPB	chr1:154339544-154339860	K562	blood:	n/a	chr1:154339687-154339698
5	CEBPB	chr1:154339608-154339805	H1-hESC	embryonic stem cell:	n/a	chr1:154339687-154339698
6	CEBPB	chr1:154339592-154339842	IMR90	lung:	n/a	chr1:154339687-154339698
7	CEBPB	chr1:154339672-154339735	HepG2	liver:	n/a	chr1:154339687-154339698
8	CTCF	chr1:154351128-154351184	GM13976	blood:	n/a	n/a
9	EP300	chr1:154338502-154338814	K562	blood:	n/a	n/a
10	EP300	chr1:154343987-154344265	K562	blood:	n/a	n/a
11	EP300	chr1:154338550-154338757	GM12878	blood:	n/a	n/a
12	FOS	chr1:154347692-154347707	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr1:154347681-154347781	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr1:154347568-154347884	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA1	chr1:154343825-154344476	PBDE	blood:	n/a	n/a
16	GATA2	chr1:154347635-154347727	SH-SY5Y	brain:	n/a	n/a
17	HEY1	chr1:154350880-154351116	K562	blood:	n/a	n/a
18	IRF1	chr1:154349938-154350126	K562	blood:	n/a	n/a
19	IRF1	chr1:154338607-154338792	K562	blood:	n/a	n/a
20	IRF1	chr1:154338620-154338885	K562	blood:	n/a	n/a
21	JUND	chr1:154335526-154335721	HepG2	liver:	n/a	chr1:154335603-154335612
22	KAP1	chr1:154344050-154344354	K562	blood:	n/a	n/a
23	MYC	chr1:154347699-154347769	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr1:154347688-154347793	MCF10A-Er-Src	breast:	n/a	n/a
25	NR2F2	chr1:154341809-154342099	K562	blood:	n/a	n/a
26	NR2F2	chr1:154343927-154344623	K562	blood:	n/a	n/a
27	NR2F2	chr1:154343853-154344592	K562	blood:	n/a	n/a
28	NR2F2	chr1:154341664-154342193	K562	blood:	n/a	n/a
29	POLR2A	chr1:154350892-154351101	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:154350901-154351166	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:154350853-154351180	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:154338397-154338489	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:154346393-154346877	HL-60	blood:	n/a	n/a
34	POLR2A	chr1:154350919-154351232	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:154341495-154341654	ProgFib	skin:	n/a	n/a
36	POLR2A	chr1:154346317-154346911	HL-60	blood:	n/a	n/a
37	POLR2A	chr1:154347889-154348027	GM12878	blood:	n/a	n/a
38	RCOR1	chr1:154341880-154341986	K562	blood:	n/a	n/a
39	RCOR1	chr1:154344134-154344189	K562	blood:	n/a	n/a
40	RCOR1	chr1:154338540-154338756	K562	blood:	n/a	n/a
41	STAT3	chr1:154350181-154350263	MCF10A-Er-Src	breast:	n/a	n/a
42	TAL1	chr1:154338497-154338858	K562	blood:	n/a	n/a
43	TAL1	chr1:154341806-154342063	K562	blood:	n/a	n/a
44	TAL1	chr1:154343984-154344265	K562	blood:	n/a	n/a
45	TBL1XR1	chr1:154338659-154338669	K562	blood:	n/a	n/a
46	TBP	chr1:154338453-154338836	K562	blood:	n/a	n/a
47	TEAD4	chr1:154341844-154342081	K562	blood:	n/a	n/a
48	TEAD4	chr1:154338497-154338873	K562	blood:	n/a	n/a
49	ZBTB33	chr1:154350877-154351263	K562	blood:	n/a	n/a
50	ZNF143	chr1:154344316-154344427	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154332359..154333901-chr1:154338039..154340377,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHE-3	chr1:154349442-154349486	NONHSAT006614
2	lnc-SHE-3	chr1:154351630-154351749	NONHSAT006614
3	lnc-SHE-3	chr1:154350429-154350580	NONHSAT006614

No data

Variant related genes	Relation type
ENSG00000226855	TF binding region

Extended variants
information (count: 621 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:621 , 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	rs143449581	chr1:154335652-154335653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369871421	chr1:154335653-154335654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560306734	chr1:154335665-154335666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527243371	chr1:154335681-154335682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552153987	chr1:154335771-154335772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34900444	chr1:154335862-154335863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112624056	chr1:154335863-154335864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563972806	chr1:154335874-154335875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370049881	chr1:154335881-154335882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561277302	chr1:154335888-154335889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531617388	chr1:154335889-154335890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553189234	chr1:154335911-154335912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549834097	chr1:154335982-154335983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568217495	chr1:154335993-154335994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6660969	chr1:154336007-154336008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535611595	chr1:154336037-154336038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547443879	chr1:154336070-154336071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565836098	chr1:154336108-154336109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6657938	chr1:154336126-154336127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149768632	chr1:154336135-154336136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575503708	chr1:154336143-154336144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576396602	chr1:154336167-154336168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112559935	chr1:154336175-154336176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368556028	chr1:154336229-154336230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181924076	chr1:154336245-154336246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574252602	chr1:154336267-154336268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541654902	chr1:154336350-154336351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553856707	chr1:154336381-154336382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532633077	chr1:154336504-154336505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572169548	chr1:154336549-154336550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545620764	chr1:154336567-154336568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564087642	chr1:154336570-154336571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186297604	chr1:154336614-154336615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115848461	chr1:154336648-154336649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561655838	chr1:154336664-154336665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190990259	chr1:154336683-154336684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183622491	chr1:154336684-154336685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67156297	chr1:154336716-154336717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533239377	chr1:154336732-154336733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551613909	chr1:154336766-154336767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570007642	chr1:154336767-154336768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377495502	chr1:154336794-154336795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148942441	chr1:154336817-154336818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143721207	chr1:154336874-154336875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6661261	chr1:154336922-154336923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567963369	chr1:154336968-154336969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538162205	chr1:154337045-154337046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535387946	chr1:154337050-154337051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556497099	chr1:154337075-154337076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372576083	chr1:154337159-154337160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Angio-oedema	21790735	CNVD
Cardiomyopathy	22029807	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154326800-154360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:154338000-154338600	Enhancers	K562	blood
3	chr1:154338600-154343400	Weak transcription	K562	blood
4	chr1:154343400-154344400	Enhancers	K562	blood
5	chr1:154343600-154344000	Enhancers	A549	lung
6	chr1:154343600-154344400	Enhancers	Colonic Mucosa	Colon
7	chr1:154343600-154344600	Enhancers	HepG2	liver
8	chr1:154343800-154344400	Enhancers	Fetal Intestine Small	intestine
9	chr1:154343800-154344400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:154343800-154344600	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:154343800-154344600	Enhancers	Stomach Mucosa	stomach
12	chr1:154344000-154344400	Flanking Active TSS	A549	lung
13	chr1:154344600-154345400	Weak transcription	Stomach Mucosa	stomach
14	chr1:154345200-154347000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:154345400-154345600	Enhancers	Stomach Mucosa	stomach
16	chr1:154345400-154346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:154345400-154347000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:154345600-154345800	Weak transcription	Stomach Mucosa	stomach
19	chr1:154346200-154346800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:154346200-154346800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:154346200-154347200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:154346400-154346800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:154346400-154346800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:154346400-154346800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:154346400-154346800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:154349800-154350000	Enhancers	Osteobl	bone
27	chr1:154350200-154350400	Enhancers	Stomach Mucosa	stomach
28	chr1:154351400-154351800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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