Variant report

Variant	nsv517863
Chromosome Location	chr10:96904057-96928702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:96913265-96913574	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:96913227-96913544	IMR90	lung:	n/a	n/a
3	CEBPB	chr10:96913308-96913525	A549	lung:	n/a	n/a
4	CEBPB	chr10:96913375-96913492	K562	blood:	n/a	n/a
5	CTCF	chr10:96928480-96928630	HEK293	kidney:	n/a	n/a
6	CTCF	chr10:96928580-96928730	HepG2	liver:	n/a	n/a
7	CTCF	chr10:96928671-96928725	GM12891	blood:	n/a	n/a
8	CTCF	chr10:96928642-96928746	MCF-7	breast:	n/a	n/a
9	CTCF	chr10:96928644-96928723	GM19240	blood:	n/a	n/a
10	CTCF	chr10:96928671-96928717	GM12878	blood:	n/a	n/a
11	CTCF	chr10:96928626-96928741	MCF-7	breast:	n/a	n/a
12	CTCF	chr10:96927096-96927128	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr10:96928648-96928732	A549	lung:	n/a	n/a
14	CTCF	chr10:96928629-96928745	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:96928631-96928750	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:96928679-96928712	Fibrobl	skin:	n/a	n/a
17	CTCF	chr10:96928662-96928745	LNCaP	prostate:	n/a	n/a
18	CTCF	chr10:96928571-96928734	HepG2	liver:	n/a	n/a
19	CTCF	chr10:96928694-96928714	GM12892	blood:	n/a	n/a
20	CTCF	chr10:96919574-96919592	LNCaP	prostate:	n/a	n/a
21	CTCF	chr10:96928622-96928774	MCF-7	breast:	n/a	n/a
22	FOXA1	chr10:96907441-96907691	HepG2	liver:	n/a	n/a
23	FOXA2	chr10:96907497-96907717	A549	lung:	n/a	n/a
24	FOXA2	chr10:96907335-96907922	A549	lung:	n/a	n/a
25	IRF3	chr10:96904940-96904963	GM12878	blood:	n/a	n/a
26	MAFF	chr10:96927999-96928177	K562	blood:	n/a	n/a
27	MAFK	chr10:96928055-96928203	K562	blood:	n/a	chr10:96928082-96928092
28	MAX	chr10:96927940-96928196	K562	blood:	n/a	n/a
29	MAX	chr10:96927956-96928185	K562	blood:	n/a	n/a
30	MYC	chr10:96907270-96907408	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr10:96928576-96928645	GM12878	blood:	n/a	n/a
32	MYC	chr10:96927969-96928209	K562	blood:	n/a	n/a
33	POLR2A	chr10:96919852-96919934	MCF10A-Er-Src	breast:	n/a	n/a
34	RAD21	chr10:96928579-96928758	HepG2	liver:	n/a	n/a
35	RAD21	chr10:96928593-96928666	HepG2	liver:	n/a	n/a
36	RAD21	chr10:96928578-96928778	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr10:96928416-96928954	HCT-116	colon:	n/a	n/a
38	RAD21	chr10:96928502-96928881	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr10:96928429-96928789	MCF-7	breast:	n/a	n/a
40	REST	chr10:96914400-96914474	GM12878	blood:	n/a	n/a
41	RFX5	chr10:96905793-96905981	K562	blood:	n/a	n/a
42	SPI1	chr10:96917612-96917776	K562	blood:	n/a	n/a
43	SPI1	chr10:96917603-96917837	GM12878	blood:	n/a	n/a
44	SPI1	chr10:96914740-96914920	K562	blood:	n/a	n/a
45	SPI1	chr10:96917579-96917861	GM12891	blood:	n/a	n/a
46	SPI1	chr10:96914706-96914936	K562	blood:	n/a	n/a
47	SPI1	chr10:96917587-96917821	GM12891	blood:	n/a	n/a
48	SPI1	chr10:96911014-96911510	GM12878	blood:	n/a	n/a
49	STAT3	chr10:96913952-96913995	MCF10A-Er-Src	breast:	n/a	n/a
50	TEAD4	chr10:96928608-96928872	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDLIM1-2	chr10:96928138-96928182	XLOC_008910
2	lnc-PDLIM1-2	chr10:96904028-96904175	XLOC_008910
3	lnc-CYP2C8-2	chr10:96918128-96918172	NONHSAT015747
4	lnc-PDLIM1-2	chr10:96904028-96904175	ENSG00000231829.2
5	lnc-PDLIM1-2	chr10:96904028-96904243	XLOC_008910
6	lnc-PDLIM1-2	chr10:96928138-96928182	ENSG00000231829.2

No data

Variant related genes	Relation type
ENSG00000231829	TF binding region

Extended variants
information (count: 356 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs632113	chr10:96904057-96904058	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568428181	chr10:96904065-96904066	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs191326404	chr10:96904105-96904106	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs556938011	chr10:96904109-96904110	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs77411331	chr10:96904134-96904135	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs11188204	chr10:96904157-96904158	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs539811119	chr10:96904196-96904197	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs553238292	chr10:96904224-96904225	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs573266790	chr10:96904253-96904254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370870401	chr10:96904288-96904289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs666679	chr10:96904460-96904461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561823122	chr10:96904461-96904462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540908355	chr10:96904476-96904477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544489115	chr10:96904508-96904509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183621057	chr10:96904513-96904514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34158405	chr10:96904717-96904718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532821459	chr10:96904726-96904727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185822927	chr10:96904824-96904825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374729071	chr10:96904825-96904826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111380362	chr10:96904841-96904842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57564310	chr10:96904868-96904869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543621513	chr10:96904879-96904880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548378712	chr10:96904953-96904954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113770543	chr10:96905014-96905015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537364582	chr10:96905038-96905039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550896487	chr10:96905065-96905066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149773566	chr10:96905112-96905113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190910828	chr10:96905120-96905121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553321101	chr10:96905144-96905145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34865809	chr10:96905155-96905156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573264506	chr10:96905174-96905175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549428871	chr10:96905201-96905202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535903009	chr10:96905220-96905221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555620519	chr10:96905230-96905231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183153092	chr10:96905266-96905267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544402319	chr10:96905291-96905292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532737852	chr10:96905303-96905304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186715940	chr10:96905342-96905343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535381357	chr10:96905370-96905371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190929025	chr10:96905371-96905372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539859157	chr10:96905457-96905458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560049731	chr10:96905483-96905484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182746475	chr10:96905512-96905513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548634673	chr10:96905554-96905555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562229714	chr10:96905555-96905556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531037534	chr10:96905564-96905565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550759257	chr10:96905575-96905576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571097340	chr10:96905597-96905598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558498368	chr10:96905645-96905646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs682477	chr10:96905653-96905654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96890600-96904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:96894000-96906600	Weak transcription	Primary B cells from cord blood	blood
3	chr10:96896600-96904400	Weak transcription	Fetal Intestine Large	intestine
4	chr10:96903200-96904600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:96918800-96923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:96926400-96937400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:96927000-96931800	Weak transcription	Aorta	Aorta
8	chr10:96927200-96935400	Weak transcription	Fetal Intestine Small	intestine
9	chr10:96927400-96927600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:96927600-96928600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:96928000-96929000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:96928600-96928800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:96928600-96928800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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