Variant report

Variant	nsv870749
Chromosome Location	chr1:102729275-103057270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:710)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:102885486-102885777	HepG2	liver:	n/a	n/a
2	ATF1	chr1:102831922-102832055	K562	blood:	n/a	n/a
3	ATF2	chr1:102743792-102744012	GM12878	blood:	n/a	n/a
4	ATF2	chr1:102963368-102963672	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr1:102896928-102897159	GM12878	blood:	n/a	chr1:102897077-102897088
6	BCL11A	chr1:102963370-102963761	H1-hESC	embryonic stem cell:	n/a	n/a
7	CBX3	chr1:102900059-102900338	K562	blood:	n/a	n/a
8	CBX3	chr1:102900063-102900391	K562	blood:	n/a	n/a
9	CBX3	chr1:102963353-102963585	K562	blood:	n/a	n/a
10	CEBPB	chr1:102963413-102963763	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr1:102758137-102758265	A549	lung:	n/a	chr1:102758175-102758186
12	CEBPB	chr1:102743634-102743938	HepG2	liver:	n/a	chr1:102743860-102743873 chr1:102743860-102743873 chr1:102743862-102743871 chr1:102743862-102743871 chr1:102743860-102743871 chr1:102743860-102743871 chr1:102743862-102743871 chr1:102743862-102743871 chr1:102743860-102743873
13	CEBPB	chr1:102765105-102765132	K562	blood:	n/a	n/a
14	CEBPB	chr1:102976355-102976559	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:102798140-102798492	HepG2	liver:	n/a	chr1:102798315-102798326
16	CEBPB	chr1:102734741-102734845	K562	blood:	n/a	n/a
17	CEBPB	chr1:102925758-102926021	HepG2	liver:	n/a	chr1:102925877-102925888
18	CEBPB	chr1:102758061-102758332	HepG2	liver:	n/a	chr1:102758175-102758186
19	CEBPB	chr1:102818974-102819308	HepG2	liver:	n/a	chr1:102819149-102819160
20	CEBPB	chr1:102843548-102843788	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:102734664-102735384	HepG2	liver:	n/a	chr1:102735268-102735279
22	CEBPB	chr1:102798178-102798480	IMR90	lung:	n/a	chr1:102798315-102798326
23	CEBPB	chr1:102798257-102798386	H1-hESC	embryonic stem cell:	n/a	chr1:102798315-102798326
24	CEBPB	chr1:102845346-102845634	HepG2	liver:	n/a	chr1:102845619-102845632 chr1:102845492-102845503
25	CEBPB	chr1:102734656-102734961	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:103054147-103054444	MCF-7	breast:	n/a	n/a
27	CHD2	chr1:102900092-102900317	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:102900086-102900366	Gliobla	brain:	n/a	n/a
29	CTCF	chr1:102900140-102900290	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr1:102900140-102900290	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr1:103016500-103016650	RPTEC	kidney:	n/a	n/a
32	CTCF	chr1:103016500-103016650	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:103032000-103032150	HMEC	breast:	n/a	n/a
34	CTCF	chr1:102900037-102900337	K562	blood:	n/a	n/a
35	CTCF	chr1:102950240-102950390	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr1:102900040-102900190	K562	blood:	n/a	n/a
37	CTCF	chr1:103016318-103016642	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:103016460-103016610	GM12874	blood:	n/a	n/a
39	CTCF	chr1:103016480-103016630	GM12872	blood:	n/a	n/a
40	CTCF	chr1:102900160-102900310	HepG2	liver:	n/a	n/a
41	CTCF	chr1:102900140-102900290	K562	blood:	n/a	n/a
42	CTCF	chr1:102900200-102900350	HCT-116	colon:	n/a	n/a
43	CTCF	chr1:102900116-102900342	Medullo	brain:	n/a	n/a
44	CTCF	chr1:103016360-103016510	BE2_C	brain:	n/a	n/a
45	CTCF	chr1:103016580-103016730	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr1:103016508-103016585	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr1:102777888-102777925	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr1:102900240-102900390	HCM	heart:	n/a	n/a
49	CTCF	chr1:102900180-102900330	GM12869	blood:	n/a	n/a
50	CTCF	chr1:103016297-103016706	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:102863880..102865440-chr1:102870522..102872481,2	K562	blood:
2	chr1:102863880..102865440-chr1:102870522..102872481,2	K562	blood:
3	chr1:103012153..103012701-chr5:175156658..175157566,2	MCF-7	breast:
4	chr1:103016225..103017019-chr1:103436153..103436688,2	MCF-7	breast:
5	chr1:102816532..102818032-chr6:130363143..130365830,2	MCF-7	breast:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-1	chr1:102852918-102852977	XLOC_000943
2	lnc-COL11A1-3	chr1:103001466-103001649	NONHSAT004876
3	lnc-OLFM3-1	chr1:102852918-102852977	XLOC_000943
4	lnc-OLFM3-1	chr1:102855050-102855163	XLOC_000943
5	lnc-OLFM3-1	chr1:102852761-102852807	XLOC_000943
6	lnc-OLFM3-1	chr1:102830569-102830793	XLOC_000943
7	lnc-OLFM3-1	chr1:102854091-102854185	XLOC_000943
8	lnc-COL11A1-3	chr1:103011102-103011236	NONHSAT004876
9	lnc-COL11A1-3	chr1:103005667-103005774	NONHSAT004876
10	lnc-OLFM3-1	chr1:102775825-102775884	XLOC_000943
11	lnc-OLFM3-1	chr1:102854091-102854120	XLOC_000943
12	lnc-OLFM3-1	chr1:102855050-102855186	XLOC_000943
13	lnc-COL11A1-3	chr1:103004701-103004800	NONHSAT004876
14	lnc-COL11A1-3	chr1:103005919-103005946	NONHSAT004876
15	lnc-OLFM3-1	chr1:102775826-102775884	XLOC_000943
16	lnc-COL11A1-3	chr1:103037948-103038072	NONHSAT004876
17	lnc-OLFM3-1	chr1:102852644-102852807	XLOC_000943
18	lnc-OLFM3-1	chr1:102853515-102853765	XLOC_000943
19	lnc-OLFM3-1	chr1:102854091-102854185	XLOC_000943

No data

Variant related genes	Relation type
ENSG00000233359	TF binding region
MPHOSPH9	miRNA target sites
C10orf26	miRNA target sites
SYNE2	miRNA target sites
GCET2	miRNA target sites
C1orf103	miRNA target sites
PRNP	miRNA target sites
LNX2	miRNA target sites

Extended variants
information (count: 783 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564701989	chr1:102749421-102749422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532469192	chr1:102749436-102749437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80268305	chr1:102749445-102749446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527618262	chr1:102749511-102749512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568716693	chr1:102749539-102749540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192653066	chr1:102749559-102749560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184683329	chr1:102749562-102749563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75586174	chr1:102749563-102749564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566673116	chr1:102749618-102749619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570798723	chr1:102749710-102749711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12041714	chr1:102749787-102749788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558945582	chr1:102749824-102749825	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570724879	chr1:102749854-102749855	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567549707	chr1:102749858-102749859	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375570165	chr1:102749905-102749906	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116672813	chr1:102749913-102749914	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147977720	chr1:102749916-102749917	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72994920	chr1:102749936-102749937	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554401606	chr1:102749967-102749968	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187722213	chr1:102749976-102749977	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539934598	chr1:102750011-102750012	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141698049	chr1:102750032-102750033	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150529286	chr1:102750052-102750053	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192751864	chr1:102750053-102750054	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536515348	chr1:102750066-102750067	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138282200	chr1:102750081-102750082	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529938174	chr1:102750084-102750085	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367552209	chr1:102750095-102750096	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138329276	chr1:102750098-102750099	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550303363	chr1:102750246-102750247	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568529174	chr1:102750266-102750267	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548009794	chr1:102750268-102750269	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1341883	chr1:102750280-102750281	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527802522	chr1:102750284-102750285	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552363286	chr1:102750335-102750336	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12035744	chr1:102750360-102750361	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142918010	chr1:102750410-102750411	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112136751	chr1:102750413-102750414	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568817465	chr1:102750452-102750453	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536131401	chr1:102750480-102750481	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76685054	chr1:102750510-102750511	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375526017	chr1:102750513-102750514	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1341884	chr1:102750518-102750519	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370551548	chr1:102750524-102750525	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533907264	chr1:102750588-102750589	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558330695	chr1:102750627-102750628	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576864385	chr1:102750643-102750644	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546639933	chr1:102750653-102750654	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76218507	chr1:102750670-102750671	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574426745	chr1:102750690-102750691	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102749400-102749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:102749800-102750800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:102750800-102751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:102778200-102778600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:102791800-102792000	Enhancers	Pancreas	Pancrea
6	chr1:102818200-102818800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:102828200-102828600	Enhancers	HUVEC	blood vessel
8	chr1:102845800-102846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:102885600-102886000	Enhancers	Liver	Liver
10	chr1:102885600-102886000	Enhancers	HepG2	liver
11	chr1:102900000-102900400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:102901200-102901400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:102901200-102901600	Enhancers	GM12878-XiMat	blood
14	chr1:102901400-102901600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:102907800-102908400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:102938600-102939000	Enhancers	Fetal Brain Male	brain
17	chr1:102944600-102945000	Enhancers	Dnd41	blood
18	chr1:102945000-102946000	Weak transcription	Dnd41	blood
19	chr1:102946200-102946400	Enhancers	Dnd41	blood
20	chr1:102954000-102954400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:102959800-102962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:103011200-103012000	Enhancers	Fetal Stomach	stomach
23	chr1:103029000-103029800	Active TSS	Primary B cells from cord blood	blood
24	chr1:103029800-103030000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr1:103051400-103052000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:103051800-103052200	Enhancers	Dnd41	blood
27	chr1:103051800-103053600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:103052000-103052400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:103052400-103053600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:103053600-103054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:103053600-103054200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:103054200-103054400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:103054200-103054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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