Variant report

Variant	nsv871786
Chromosome Location	chr1:102799057-102865643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:102831922-102832055	K562	blood:	n/a	n/a
2	CEBPB	chr1:102843548-102843788	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:102818974-102819308	HepG2	liver:	n/a	chr1:102819149-102819160
4	CEBPB	chr1:102845346-102845634	HepG2	liver:	n/a	chr1:102845619-102845632 chr1:102845492-102845503
5	CTCF	chr1:102840329-102840387	LNCaP	prostate:	n/a	n/a
6	CTCF	chr1:102840313-102840442	LNCaP	prostate:	n/a	n/a
7	E2F4	chr1:102843698-102844140	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr1:102853908-102854118	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr1:102829222-102829545	SK-N-SH_RA	brain:	n/a	n/a
10	FOS	chr1:102829851-102829929	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA2	chr1:102826285-102826584	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr1:102811457-102811625	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr1:102860766-102860955	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr1:102829311-102829797	SH-SY5Y	brain:	n/a	chr1:102829435-102829442
15	GATA3	chr1:102863381-102863470	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr1:102865222-102865342	SH-SY5Y	brain:	n/a	n/a
17	JUN	chr1:102818927-102819057	K562	blood:	n/a	n/a
18	JUND	chr1:102843592-102843728	H1-hESC	embryonic stem cell:	n/a	n/a
19	KAP1	chr1:102800741-102800941	K562	blood:	n/a	n/a
20	MAFK	chr1:102810524-102810706	HepG2	liver:	n/a	n/a
21	MAFK	chr1:102828747-102828755	HepG2	liver:	n/a	n/a
22	MYC	chr1:102856419-102856571	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr1:102844687-102845149	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr1:102824910-102825004	ProgFib	skin:	n/a	n/a
25	POLR2A	chr1:102860540-102860609	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:102839530-102839776	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr1:102818519-102818707	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr1:102855538-102855691	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr1:102836293-102836493	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr1:102842398-102842514	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr1:102801420-102801603	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr1:102839447-102839478	MCF10A-Er-Src	breast:	n/a	n/a
33	RCOR1	chr1:102850110-102850114	Hela-S3	cervix:	n/a	n/a
34	STAT3	chr1:102861310-102861510	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr1:102844541-102844699	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr1:102853465-102853615	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr1:102813651-102813851	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102816532..102818032-chr6:130363143..130365830,2	MCF-7	breast:
2	chr1:102863880..102865440-chr1:102870522..102872481,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-1	chr1:102855050-102855186	XLOC_000943
2	lnc-OLFM3-1	chr1:102855050-102855163	XLOC_000943
3	lnc-OLFM3-1	chr1:102830569-102830793	XLOC_000943
4	lnc-OLFM3-1	chr1:102852918-102852977	XLOC_000943
5	lnc-OLFM3-1	chr1:102854091-102854185	XLOC_000943
6	lnc-OLFM3-1	chr1:102854091-102854120	XLOC_000943
7	lnc-OLFM3-1	chr1:102852918-102852977	XLOC_000943
8	lnc-OLFM3-1	chr1:102854091-102854185	XLOC_000943
9	lnc-OLFM3-1	chr1:102853515-102853765	XLOC_000943
10	lnc-OLFM3-1	chr1:102852644-102852807	XLOC_000943
11	lnc-OLFM3-1	chr1:102852761-102852807	XLOC_000943

No data

Variant related genes	Relation type
ENSG00000233359	TF binding region
GCET2	miRNA target sites
C10orf26	miRNA target sites
PRNP	miRNA target sites
MPHOSPH9	miRNA target sites
SYNE2	miRNA target sites
LNX2	miRNA target sites

Extended variants
information (count: 98 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191612516	chr1:102818231-102818232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1341907	chr1:102818248-102818249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11589850	chr1:102818276-102818277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11588141	chr1:102818324-102818325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149072675	chr1:102818333-102818334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116820341	chr1:102818376-102818377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182907665	chr1:102818426-102818427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572617014	chr1:102818442-102818443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186009740	chr1:102818466-102818467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564664717	chr1:102818492-102818493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577050792	chr1:102818497-102818498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114327531	chr1:102818504-102818505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562471231	chr1:102818527-102818528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151232107	chr1:102818587-102818588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11164478	chr1:102818617-102818618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577098365	chr1:102818619-102818620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34905483	chr1:102818648-102818649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs386634009	chr1:102818649-102818650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67022823	chr1:102818650-102818651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35319010	chr1:102818651-102818652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11377841	chr1:102818672-102818673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35987860	chr1:102818673-102818674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1341908	chr1:102818686-102818687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556644297	chr1:102818701-102818702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370729071	chr1:102818702-102818703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34908285	chr1:102818708-102818709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76790544	chr1:102818729-102818730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114433734	chr1:102818750-102818751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1417235	chr1:102818765-102818766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114111779	chr1:102818773-102818774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372652181	chr1:102828237-102828238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538490351	chr1:102828244-102828245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556484027	chr1:102828288-102828289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192952205	chr1:102828322-102828323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11809901	chr1:102828330-102828331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563044394	chr1:102828369-102828370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77379115	chr1:102828389-102828390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544918783	chr1:102828407-102828408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138419573	chr1:102828425-102828426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541038376	chr1:102828464-102828465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114998130	chr1:102828535-102828536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1261697	chr1:102828586-102828587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1241416	chr1:102828593-102828594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570110766	chr1:102830580-102830581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs1573001	chr1:102830625-102830626	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577498461	chr1:102830675-102830676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs1573002	chr1:102830754-102830755	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200979159	chr1:102830755-102830756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs565020394	chr1:102845852-102845853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532411263	chr1:102845859-102845860	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102818200-102818800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:102828200-102828600	Enhancers	HUVEC	blood vessel
3	chr1:102845800-102846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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