Variant report

Variant	nsv877798
Chromosome Location	chr3:162859171-162925738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:162897199-162897419	A549	lung:	n/a	n/a
2	CEBPB	chr3:162893798-162893837	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr3:162900110-162900118	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr3:162917440-162917590	AG09319	gingival:	n/a	n/a
5	CTCF	chr3:162887978-162888033	GM13976	blood:	n/a	n/a
6	CTCF	chr3:162870820-162870854	GM20000	blood:	n/a	n/a
7	CTCF	chr3:162887986-162888003	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr3:162884766-162884837	Lung_OC	lung:	n/a	n/a
9	CTCF	chr3:162888037-162888039	GM13976	blood:	n/a	n/a
10	CTCF	chr3:162884697-162884750	GM20000	blood:	n/a	n/a
11	CUX1	chr3:162904026-162904103	K562	blood:	n/a	n/a
12	E2F4	chr3:162923860-162924015	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr3:162902166-162902451	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr3:162863651-162863841	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr3:162862212-162862415	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr3:162924253-162924397	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr3:162912011-162912176	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr3:162895680-162895880	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr3:162920670-162920867	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr3:162912401-162912480	GM12878	blood:	n/a	n/a
21	FOS	chr3:162877178-162877422	MCF10A-Er-Src	breast:	n/a	chr3:162877284-162877291 chr3:162877283-162877291
22	FOS	chr3:162862256-162862545	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr3:162862277-162862538	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr3:162862255-162862566	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr3:162862292-162862586	MCF10A-Er-Src	breast:	n/a	n/a
26	FOXA1	chr3:162886209-162886650	T-47D	breast:	n/a	n/a
27	FOXA1	chr3:162886197-162886715	T-47D	breast:	n/a	n/a
28	FOXA1	chr3:162862287-162862525	A549	lung:	n/a	n/a
29	FOXA1	chr3:162924313-162924659	T-47D	breast:	n/a	n/a
30	FOXP2	chr3:162903445-162903861	SK-N-MC	brain:	n/a	n/a
31	GATA2	chr3:162895146-162895483	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr3:162886194-162886616	T-47D	breast:	n/a	n/a
33	GATA3	chr3:162886147-162886686	T-47D	breast:	n/a	n/a
34	GATA3	chr3:162883100-162883254	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr3:162876482-162876614	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr3:162922026-162922108	MCF-7	breast:	n/a	n/a
37	GATA3	chr3:162895027-162895476	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr3:162885146-162885714	MCF-7	breast:	n/a	n/a
39	HDAC2	chr3:162885136-162885630	MCF-7	breast:	n/a	n/a
40	IRF1	chr3:162899238-162899248	K562	blood:	n/a	n/a
41	IRF1	chr3:162904760-162904763	K562	blood:	n/a	n/a
42	MAFK	chr3:162883806-162883896	HepG2	liver:	n/a	n/a
43	MAFK	chr3:162920475-162920642	HepG2	liver:	n/a	chr3:162920578-162920587 chr3:162920577-162920587
44	MAFK	chr3:162894710-162894806	HepG2	liver:	n/a	n/a
45	MAFK	chr3:162902207-162902407	HepG2	liver:	n/a	n/a
46	MAFK	chr3:162883805-162883971	HepG2	liver:	n/a	n/a
47	MAFK	chr3:162925041-162925272	HepG2	liver:	n/a	chr3:162925153-162925168
48	MAFK	chr3:162925032-162925236	HepG2	liver:	n/a	chr3:162925153-162925168
49	MAFK	chr3:162918975-162919027	HepG2	liver:	n/a	n/a
50	MAZ	chr3:162905807-162905997	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:
2	chr3:162924888..162927929-chr3:162929573..162933579,3	K562	blood:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
2	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
3	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
4	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
5	lnc-SI-4	chr3:162925431-162925545	ENSG00000241369
6	lnc-SI-4	chr3:162917662-162917719	NONHSAT093031
7	lnc-SI-4	chr3:162917416-162917542	ENSG00000241369
8	lnc-SI-4	chr3:162917416-162917542	NONHSAT093031
9	lnc-SI-4	chr3:162917366-162917542	ENSG00000241369
10	lnc-SI-4	chr3:162905018-162905052	NONHSAT093031
11	lnc-SI-4	chr3:162904856-162905052	ENSG00000241369
12	lnc-SI-4	chr3:162900619-162900716	ENSG00000241369
13	lnc-SI-4	chr3:162895689-162895889	ENSG00000241369
14	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
15	lnc-SI-4	chr3:162919870-162920037	ENSG00000241369
16	lnc-SI-4	chr3:162919871-162920037	NONHSAT093037
17	lnc-SI-4	chr3:162895031-162895889	ENSG00000241369
18	lnc-SI-4	chr3:162917365-162917542	ENSG00000241369
19	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
20	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
21	lnc-SI-4	chr3:162900619-162900698	ENSG00000241369
22	lnc-SI-4	chr3:162921206-162921303	ENSG00000241369
23	lnc-SI-4	chr3:162921206-162921298	NONHSAT093037
24	lnc-SI-4	chr3:162921206-162921303	ENSG00000241369
25	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
26	lnc-SI-4	chr3:162917363-162917542	ENSG00000241369
27	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
28	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
29	lnc-SI-4	chr3:162917363-162917542	ENSG00000241369
30	lnc-SI-4	chr3:162917411-162917542	ENSG00000241369

No data

Variant related genes	Relation type
CT64	TF binding region
ENSG00000238398	TF binding region

Extended variants
information (count: 376 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:376 , 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	rs552778678	chr3:162889816-162889817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370782256	chr3:162889847-162889848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370227461	chr3:162889856-162889857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373720986	chr3:162889943-162889944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183502845	chr3:162890011-162890012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138695682	chr3:162890041-162890042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149355205	chr3:162890042-162890043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188573706	chr3:162890048-162890049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578036786	chr3:162890057-162890058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544891398	chr3:162890058-162890059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147473388	chr3:162890066-162890067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376084011	chr3:162890074-162890075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181036846	chr3:162890092-162890093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529929288	chr3:162890114-162890115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139985324	chr3:162890160-162890161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563466873	chr3:162890171-162890172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532385536	chr3:162890175-162890176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552258387	chr3:162890190-162890191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565805573	chr3:162890232-162890233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186331895	chr3:162890255-162890256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547863489	chr3:162890284-162890285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143992280	chr3:162890338-162890339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190399778	chr3:162890368-162890369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557272863	chr3:162890394-162890395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181674604	chr3:162890412-162890413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13094605	chr3:162890453-162890454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539647304	chr3:162890483-162890484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553021141	chr3:162890496-162890497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187566627	chr3:162890498-162890499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542343098	chr3:162890512-162890513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555451871	chr3:162890523-162890524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190898288	chr3:162890529-162890530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571700303	chr3:162890532-162890533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543341516	chr3:162890546-162890547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540676045	chr3:162890558-162890559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542900684	chr3:162890584-162890585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147309187	chr3:162890618-162890619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577085727	chr3:162890622-162890623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546038185	chr3:162890626-162890627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182336101	chr3:162890627-162890628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185131252	chr3:162890651-162890652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189844111	chr3:162890721-162890722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56691025	chr3:162890743-162890744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530538559	chr3:162890870-162890871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12636618	chr3:162890878-162890879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142471187	chr3:162890956-162890957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532208950	chr3:162890969-162890970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368556283	chr3:162890979-162890980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183434757	chr3:162891025-162891026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150910261	chr3:162891042-162891043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162889800-162894200	Weak transcription	Fetal Heart	heart
2	chr3:162892200-162892400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:162892200-162892800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:162892200-162892800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:162892800-162893800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:162893800-162894000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:162894200-162895200	Enhancers	Fetal Heart	heart
8	chr3:162904600-162905000	ZNF genes & repeats	Dnd41	blood
9	chr3:162914400-162915000	Enhancers	Dnd41	blood

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