Variant report

Variant	nsv946523
Chromosome Location	chr1:179417249-179426389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:179417315-179418149	K562	blood:	n/a	n/a
2	BACH1	chr1:179417282-179417546	K562	blood:	n/a	n/a
3	BHLHE40	chr1:179417644-179417794	K562	blood:	n/a	chr1:179417771-179417787
4	CCNT2	chr1:179417639-179417843	K562	blood:	n/a	n/a
5	CEBPB	chr1:179417922-179418292	K562	blood:	n/a	n/a
6	CEBPB	chr1:179417959-179418279	K562	blood:	n/a	n/a
7	CTCF	chr1:179417603-179417829	K562	blood:	n/a	n/a
8	CTCF	chr1:179417700-179417850	K562	blood:	n/a	n/a
9	CTCF	chr1:179417100-179417250	K562	blood:	n/a	n/a
10	CTCF	chr1:179420958-179421093	Lung_OC	lung:	n/a	n/a
11	E2F6	chr1:179417649-179417864	K562	blood:	n/a	chr1:179417754-179417763
12	EP300	chr1:179417882-179418132	K562	blood:	n/a	n/a
13	EP300	chr1:179417311-179417511	K562	blood:	n/a	n/a
14	HMGN3	chr1:179417615-179417840	K562	blood:	n/a	n/a
15	JUND	chr1:179417919-179418150	K562	blood:	n/a	n/a
16	MAFF	chr1:179417890-179418191	K562	blood:	n/a	n/a
17	MAFF	chr1:179417285-179417473	K562	blood:	n/a	n/a
18	MAFK	chr1:179417285-179417622	K562	blood:	n/a	n/a
19	MAFK	chr1:179417922-179418231	K562	blood:	n/a	n/a
20	MAX	chr1:179417610-179417825	K562	blood:	n/a	n/a
21	MAX	chr1:179417629-179417860	K562	blood:	n/a	n/a
22	MAX	chr1:179417523-179417854	K562	blood:	n/a	n/a
23	MAZ	chr1:179417759-179417834	K562	blood:	n/a	n/a
24	MYC	chr1:179417591-179418148	K562	blood:	n/a	n/a
25	POLR2A	chr1:179425771-179425785	A549	lung:	n/a	n/a
26	POLR2A	chr1:179417971-179418191	K562	blood:	n/a	n/a
27	POLR2A	chr1:179425915-179425993	GM12878	blood:	n/a	n/a
28	RAD21	chr1:179417692-179417856	K562	blood:	n/a	n/a
29	RCOR1	chr1:179417737-179418238	K562	blood:	n/a	n/a
30	RFX5	chr1:179417982-179418016	K562	blood:	n/a	n/a
31	TAL1	chr1:179417260-179417550	K562	blood:	n/a	n/a
32	UBTF	chr1:179417616-179417838	K562	blood:	n/a	n/a
33	YY1	chr1:179426207-179426551	H1-hESC	embryonic stem cell:	n/a	chr1:179426365-179426377
34	YY1	chr1:179426232-179426497	H1-hESC	embryonic stem cell:	n/a	chr1:179426365-179426377
35	ZNF274	chr1:179419867-179420104	NT2-D1	testis:	n/a	n/a
36	ZNF384	chr1:179417675-179418305	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179408823..179410527-chr1:179414662..179417302,2	K562	blood:
2	chr1:179420955..179423707-chr1:179426882..179428656,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPHS2-5	chr1:179416713-179417575	NONHSAT007861
2	lnc-SOAT1-3	chr1:179417648-179417966	NONHSAT007860
3	lnc-SOAT1-3	chr1:179417648-179417967	NONHSAT007859
4	lnc-NPHS2-4	chr1:179426230-179426567	NONHSAT007862

No data

Variant related genes	Relation type
MEF2AP1	TF binding region
SATB2	miRNA target sites

Extended variants
information (count: 86 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528040756	chr1:179417301-179417302	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs6425558	chr1:179417347-179417348	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs577000155	chr1:179417421-179417422	Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs530058498	chr1:179417427-179417428	Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550029917	chr1:179417436-179417437	Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs144239242	chr1:179417452-179417453	Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563408357	chr1:179417513-179417514	Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs12738929	chr1:179417524-179417525	Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs12724496	chr1:179417549-179417550	Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs12724634	chr1:179417614-179417615	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs151131404	chr1:179417644-179417645	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547364829	chr1:179417645-179417646	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548424456	chr1:179417652-179417653	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs141253052	chr1:179417679-179417680	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs12739116	chr1:179417682-179417683	Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs536312711	chr1:179417729-179417730	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs73036715	chr1:179417735-179417736	Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577044706	chr1:179417742-179417743	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs145097220	chr1:179417758-179417759	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs559237263	chr1:179417767-179417768	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs11580135	chr1:179417780-179417781	Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76796259	chr1:179417781-179417782	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs561598770	chr1:179417791-179417792	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs574756783	chr1:179417807-179417808	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs147624567	chr1:179417810-179417811	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs77141049	chr1:179417860-179417861	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs570469706	chr1:179417879-179417880	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs532515977	chr1:179417913-179417914	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs142145450	chr1:179417919-179417920	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs191991838	chr1:179417926-179417927	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs568067217	chr1:179417959-179417960	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs548206111	chr1:179417962-179417963	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs114315289	chr1:179417984-179417985	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs34365013	chr1:179418026-179418027	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs10913769	chr1:179418056-179418057	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs550644494	chr1:179418108-179418109	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs570454770	chr1:179418114-179418115	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs10913770	chr1:179418132-179418133	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs115535758	chr1:179418144-179418145	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs10913771	chr1:179418181-179418182	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs535184970	chr1:179418193-179418194	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs150178749	chr1:179418204-179418205	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs575105893	chr1:179418221-179418222	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs543755472	chr1:179418246-179418247	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs7555131	chr1:179418258-179418259	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs553455392	chr1:179418274-179418275	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs138637997	chr1:179418307-179418308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545895554	chr1:179418310-179418311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148891676	chr1:179418328-179418329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184455170	chr1:179418353-179418354	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179416800-179417400	Enhancers	K562	blood
2	chr1:179417400-179417600	Flanking Active TSS	K562	blood
3	chr1:179417600-179418000	Active TSS	K562	blood
4	chr1:179418000-179418600	Enhancers	K562	blood

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