Variant report

Variant	nsv591043
Chromosome Location	chr3:97853159-97890367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:97859032-97859037	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr3:97856959-97857324	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:97856954-97857153	K562	blood:	n/a	n/a
4	CEBPB	chr3:97873705-97874032	HepG2	liver:	n/a	chr3:97873850-97873861
5	CTCF	chr3:97868194-97868279	GM10266	blood:	n/a	n/a
6	CTCF	chr3:97884135-97884303	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr3:97869056-97869117	GM10248	blood:	n/a	n/a
8	CTCF	chr3:97865477-97865502	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr3:97868196-97868256	GM13977	blood:	n/a	n/a
10	CTCF	chr3:97884129-97884304	HepG2	liver:	n/a	n/a
11	CTCF	chr3:97884180-97884330	HepG2	liver:	n/a	n/a
12	CTCF	chr3:97882688-97882729	GM10248	blood:	n/a	n/a
13	CTCF	chr3:97887450-97887549	Medullo	brain:	n/a	n/a
14	CTCF	chr3:97884218-97884248	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr3:97884207-97884295	HepG2	liver:	n/a	n/a
16	CTCF	chr3:97868287-97868395	Lung_OC	lung:	n/a	n/a
17	CTCF	chr3:97858890-97858990	Lung_OC	lung:	n/a	n/a
18	CTCF	chr3:97887528-97887558	GM10266	blood:	n/a	n/a
19	E2F4	chr3:97858339-97858507	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr3:97870223-97870394	MCF10A-Er-Src	breast:	n/a	chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
21	FOS	chr3:97870114-97870399	MCF10A-Er-Src	breast:	n/a	chr3:97870114-97870123 chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
22	FOS	chr3:97870109-97870426	MCF10A-Er-Src	breast:	n/a	chr3:97870114-97870123 chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
23	FOS	chr3:97870123-97870337	MCF10A-Er-Src	breast:	n/a	chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
24	FOSL2	chr3:97856878-97857242	HepG2	liver:	n/a	n/a
25	FOSL2	chr3:97856871-97857111	HepG2	liver:	n/a	n/a
26	FOXA1	chr3:97884116-97884437	HepG2	liver:	n/a	n/a
27	FOXA1	chr3:97885429-97885735	T-47D	breast:	n/a	n/a
28	FOXA1	chr3:97884094-97884386	HepG2	liver:	n/a	n/a
29	FOXA1	chr3:97883878-97884461	HepG2	liver:	n/a	n/a
30	FOXA2	chr3:97884127-97884371	HepG2	liver:	n/a	n/a
31	GATA3	chr3:97856097-97856235	SH-SY5Y	brain:	n/a	n/a
32	HEY1	chr3:97856912-97857168	HepG2	liver:	n/a	n/a
33	IRF4	chr3:97856946-97857347	GM12878	blood:	n/a	n/a
34	IRF4	chr3:97856864-97857352	GM12878	blood:	n/a	n/a
35	JUND	chr3:97870047-97870402	HepG2	liver:	n/a	chr3:97870114-97870123 chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870230-97870241 chr3:97870232-97870241
36	JUND	chr3:97884273-97884415	HepG2	liver:	n/a	n/a
37	MAFK	chr3:97874784-97875019	HepG2	liver:	n/a	chr3:97874923-97874939 chr3:97874928-97874939 chr3:97874928-97874939 chr3:97874927-97874938 chr3:97874927-97874938 chr3:97874926-97874940
38	MAFK	chr3:97864781-97864990	HepG2	liver:	n/a	n/a
39	MYC	chr3:97855607-97855634	NB4	blood:	n/a	n/a
40	NFYA	chr3:97873667-97873855	GM12878	blood:	n/a	n/a
41	PAX5	chr3:97856734-97857251	GM12878	blood:	n/a	n/a
42	PAX5	chr3:97856854-97857156	GM12878	blood:	n/a	n/a
43	PBX3	chr3:97856957-97857081	GM12878	blood:	n/a	n/a
44	POLR2A	chr3:97881950-97882071	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr3:97862532-97862662	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:97858742-97858815	ProgFib	skin:	n/a	n/a
47	POLR2A	chr3:97887487-97887525	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr3:97881652-97881656	A549	lung:	n/a	n/a
49	POLR2A	chr3:97873717-97873719	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr3:97863328-97863432	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:97886467-97886517	Hepatocyte	liver:	n/a
2	chr3:97867758-97867808	NB4	blood:	n/a
3	chr3:97887864-97887914	K562	blood:	n/a
4	chr3:97886603-97886653	Jurkat	blood:	n/a
5	chr3:97887864-97887914	GM06990	blood:	n/a
6	chr3:97886467-97886517	NB4	blood:	n/a
7	chr3:97886603-97886653	HCM	heart:	n/a
8	chr3:97886603-97886653	PANC-1	pancreas:	n/a
9	chr3:97886603-97886653	PrEC	prostate:	n/a
10	chr3:97868656-97868706	NB4	blood:	n/a
11	chr3:97867758-97867808	HIPEpiC	eye:	n/a
12	chr3:97868656-97868706	Hela-S3	cervix:	n/a
13	chr3:97886603-97886653	GM12878	blood:	n/a
14	chr3:97887864-97887914	BE2_C	brain:	n/a
15	chr3:97886467-97886517	Jurkat	blood:	n/a
16	chr3:97867758-97867808	RPTEC	kidney:	n/a
17	chr3:97868656-97868706	GM12878	blood:	n/a
18	chr3:97867758-97867808	HNPCEpiC	eye:	n/a
19	chr3:97887864-97887914	ovcar-3	ovarian:	n/a
20	chr3:97887864-97887914	HEEpiC	esophagus:	n/a
21	chr3:97887864-97887914	GM19239	blood:	n/a
22	chr3:97887864-97887914	Hepatocyte	liver:	n/a
23	chr3:97868656-97868706	HUVEC	blood vessel:	n/a
24	chr3:97868656-97868706	ovcar-3	ovarian:	n/a
25	chr3:97886467-97886517	HMEC	breast:	n/a
26	chr3:97886603-97886653	Hela-S3	cervix:	n/a
27	chr3:97887864-97887914	PFSK-1	brain:	n/a
28	chr3:97886467-97886517	GM12892	blood:	n/a
29	chr3:97886603-97886653	PFSK-1	brain:	n/a
30	chr3:97867758-97867808	GM12878	blood:	n/a
31	chr3:97886603-97886653	HIPEpiC	eye:	n/a
32	chr3:97868656-97868706	SKMC	muscle:	n/a
33	chr3:97887864-97887914	AG09309	skin:	n/a
34	chr3:97887864-97887914	Jurkat	blood:	n/a
35	chr3:97867758-97867808	HUVEC	blood vessel:	n/a
36	chr3:97886467-97886517	GM12891	blood:	n/a
37	chr3:97886467-97886517	ECC-1	luminal epithelium:	n/a
38	chr3:97867758-97867808	HRCEpiC	kidney:	n/a
39	chr3:97868656-97868706	PANC-1	pancreas:	n/a
40	chr3:97867758-97867808	ProgFib	skin:	n/a
41	chr3:97868656-97868706	NT2-D1	testis:	n/a
42	chr3:97886467-97886517	PFSK-1	brain:	n/a
43	chr3:97886603-97886653	AG04449	skin:	fetal
44	chr3:97886467-97886517	ProgFib	skin:	n/a
45	chr3:97868656-97868706	AG09319	gingival:	n/a
46	chr3:97868656-97868706	NH-A	brain:	n/a
47	chr3:97886467-97886517	AG09319	gingival:	n/a
48	chr3:97887864-97887914	AG09319	gingival:	n/a
49	chr3:97867758-97867808	AG09319	gingival:	n/a
50	chr3:97886603-97886653	SK-N-MC	brain:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MINA-1	chr3:97866885-97866978	ENSG00000249225.1

Variant related genes	Relation type
OR5H14	TF binding region
OR5H15	TF binding region
ENSG00000249225	TF binding region
OR5H14	CpG island
OR5H15	CpG island
ENSG00000249225	CpG island

Extended variants
information (count: 687 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369563448	chr3:97855492-97855493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560982319	chr3:97855501-97855502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57657411	chr3:97855525-97855526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530127938	chr3:97855590-97855591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537069537	chr3:97855594-97855595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569198734	chr3:97855803-97855804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193204621	chr3:97855811-97855812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184373834	chr3:97855834-97855835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72926086	chr3:97855863-97855864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576834259	chr3:97855905-97855906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371857681	chr3:97855929-97855930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574417663	chr3:97855936-97855937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540774462	chr3:97856064-97856065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139724062	chr3:97856098-97856099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553839761	chr3:97856107-97856108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573321141	chr3:97856132-97856133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10212176	chr3:97856138-97856139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565166795	chr3:97856154-97856155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374215409	chr3:97856169-97856170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189330805	chr3:97856185-97856186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544545126	chr3:97856187-97856188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561124248	chr3:97856188-97856189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530112016	chr3:97856190-97856191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540331244	chr3:97856236-97856237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4549314	chr3:97856259-97856260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114059128	chr3:97856314-97856315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552382867	chr3:97856319-97856320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4376074	chr3:97856333-97856334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531631546	chr3:97856342-97856343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548504195	chr3:97856354-97856355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567922738	chr3:97856365-97856366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376465168	chr3:97856368-97856369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114526362	chr3:97856383-97856384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553557420	chr3:97856475-97856476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9289532	chr3:97856485-97856486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376527371	chr3:97856489-97856490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572340125	chr3:97856490-97856491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72926099	chr3:97856598-97856599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72926102	chr3:97856632-97856633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181272995	chr3:97856671-97856672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12633833	chr3:97856708-97856709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4602433	chr3:97856780-97856781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374155313	chr3:97856810-97856811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368076221	chr3:97856860-97856861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560315509	chr3:97856865-97856866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72927905	chr3:97856876-97856877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147608348	chr3:97856915-97856916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142186451	chr3:97856916-97856917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150110710	chr3:97856954-97856955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548151531	chr3:97856980-97856981	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Chordoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97855400-97855600	Enhancers	GM12878-XiMat	blood
2	chr3:97855800-97856800	Weak transcription	GM12878-XiMat	blood
3	chr3:97856800-97857400	Enhancers	GM12878-XiMat	blood
4	chr3:97857800-97858800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:97858200-97858400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:97858200-97858600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr3:97858200-97859200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:97858200-97859200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:97858200-97859800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:97858200-97860000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:97858200-97866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:97858400-97858800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:97858800-97859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:97858800-97859600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:97859200-97859800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:97859800-97860800	Enhancers	Fetal Brain Male	brain
17	chr3:97860000-97860200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:97870000-97870600	Enhancers	Fetal Heart	heart
19	chr3:97889000-97890800	Enhancers	Primary monocytes fromperipheralblood	blood

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