Variant report

Variant	nsv592410
Chromosome Location	chr3:162857478-162976133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:175)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:47)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:175 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:162932325-162932463	IMR90	lung:	n/a	n/a
2	CEBPB	chr3:162893798-162893837	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr3:162897199-162897419	A549	lung:	n/a	n/a
4	CEBPB	chr3:162929418-162929759	HepG2	liver:	n/a	chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573
5	CEBPB	chr3:162929432-162929720	Hela-S3	cervix:	n/a	chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573
6	CEBPB	chr3:162929413-162929748	A549	lung:	n/a	chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573
7	CEBPB	chr3:162929409-162929718	IMR90	lung:	n/a	chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573
8	CEBPB	chr3:162929417-162929749	K562	blood:	n/a	chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573
9	CEBPB	chr3:162932353-162932482	K562	blood:	n/a	n/a
10	CEBPB	chr3:162932427-162932441	A549	lung:	n/a	n/a
11	CHD2	chr3:162900110-162900118	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr3:162884697-162884750	GM20000	blood:	n/a	n/a
13	CTCF	chr3:162973547-162973685	Medullo	brain:	n/a	chr3:162973613-162973621 chr3:162973609-162973625 chr3:162973610-162973631
14	CTCF	chr3:162917440-162917590	AG09319	gingival:	n/a	n/a
15	CTCF	chr3:162968471-162968556	GM20000	blood:	n/a	n/a
16	CTCF	chr3:162946522-162946561	GM20000	blood:	n/a	n/a
17	CTCF	chr3:162884766-162884837	Lung_OC	lung:	n/a	n/a
18	CTCF	chr3:162887986-162888003	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr3:162888037-162888039	GM13976	blood:	n/a	n/a
20	CTCF	chr3:162953064-162953107	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr3:162887978-162888033	GM13976	blood:	n/a	n/a
22	CTCF	chr3:162857527-162857550	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:162870820-162870854	GM20000	blood:	n/a	n/a
24	CUX1	chr3:162926637-162926663	GM12878	blood:	n/a	n/a
25	CUX1	chr3:162904026-162904103	K562	blood:	n/a	n/a
26	E2F4	chr3:162923860-162924015	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr3:162924253-162924397	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr3:162902166-162902451	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr3:162926919-162927032	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr3:162895680-162895880	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr3:162912011-162912176	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr3:162863651-162863841	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr3:162920670-162920867	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr3:162862212-162862415	MCF10A-Er-Src	breast:	n/a	n/a
35	EBF1	chr3:162975133-162975166	GM12878	blood:	n/a	n/a
36	ELK1	chr3:162935493-162935499	Hela-S3	cervix:	n/a	n/a
37	EP300	chr3:162912401-162912480	GM12878	blood:	n/a	n/a
38	FOS	chr3:162931715-162931968	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr3:162862255-162862566	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr3:162862292-162862586	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:162877178-162877422	MCF10A-Er-Src	breast:	n/a	chr3:162877284-162877291 chr3:162877283-162877291
42	FOS	chr3:162929505-162929690	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr3:162862277-162862538	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr3:162862256-162862545	MCF10A-Er-Src	breast:	n/a	n/a
45	FOXA1	chr3:162886197-162886715	T-47D	breast:	n/a	n/a
46	FOXA1	chr3:162924313-162924659	T-47D	breast:	n/a	n/a
47	FOXA1	chr3:162886209-162886650	T-47D	breast:	n/a	n/a
48	FOXA1	chr3:162857480-162857752	T-47D	breast:	n/a	n/a
49	FOXA1	chr3:162862287-162862525	A549	lung:	n/a	n/a
50	FOXA1	chr3:162857378-162857726	T-47D	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:
2	chr3:162973215..162973789-chr3:163207913..163208691,2	MCF-7	breast:
3	chr3:162924888..162927929-chr3:162929573..162933579,3	K562	blood:
4	chr10:69265595..69266499-chr3:162973315..162973821,2	MCF-7	breast:
5	chr3:162924888..162927929-chr3:162929573..162933579,3	K562	blood:
6	chr3:162965564..162967593-chr3:162971986..162973917,2	K562	blood:
7	chr3:162965564..162967593-chr3:162971986..162973917,2	K562	blood:

(count:47 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-2	chr3:162937866-162937980	NONHSAT093026
2	lnc-SI-4	chr3:162917365-162917542	ENSG00000241369
3	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
4	lnc-SI-4	chr3:162921206-162921303	ENSG00000241369
5	lnc-SI-4	chr3:162917662-162917719	NONHSAT093031
6	lnc-SI-4	chr3:162904856-162905052	ENSG00000241369
7	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
8	lnc-SI-4	chr3:162895031-162895889	ENSG00000241369
9	lnc-SI-4	chr3:162921206-162921303	ENSG00000241369
10	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
11	lnc-SI-4	chr3:162937889-162937929	ENSG00000241369
12	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
13	lnc-OTOL1-2	chr3:162948497-162949937	ENSG00000241168.1
14	lnc-OTOL1-2	chr3:162937866-162937980	ENSG00000241168.1
15	lnc-SI-4	chr3:162900619-162900698	ENSG00000241369
16	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
17	lnc-SI-4	chr3:162921206-162921298	NONHSAT093037
18	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
19	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
20	lnc-SI-4	chr3:162895689-162895889	ENSG00000241369
21	lnc-SI-4	chr3:162917366-162917542	ENSG00000241369
22	lnc-OTOL1-2	chr3:162946486-162946540	ENSG00000241168.1
23	lnc-SI-4	chr3:162900619-162900716	ENSG00000241369
24	lnc-SI-4	chr3:162919871-162920037	NONHSAT093037
25	lnc-SI-4	chr3:162925431-162925545	ENSG00000241369
26	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
27	lnc-OTOL1-2	chr3:162948497-162949934	NONHSAT093026
28	lnc-SI-4	chr3:162917363-162917542	ENSG00000241369
29	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
30	lnc-OTOL1-2	chr3:162925763-162925882	NONHSAT093026
31	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
32	lnc-SI-4	chr3:162919326-162919405	ENSG00000241369
33	lnc-SI-4	chr3:162917363-162917542	ENSG00000241369
34	lnc-SI-4	chr3:162919870-162920037	ENSG00000241369
35	lnc-SI-4	chr3:162937704-162937975	ENSG00000241369
36	lnc-SI-4	chr3:162936848-162936965	ENSG00000241369
37	lnc-SI-4	chr3:162917662-162917739	ENSG00000241369
38	lnc-SI-4	chr3:162917416-162917542	ENSG00000241369
39	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
40	lnc-SI-4	chr3:162917416-162917542	NONHSAT093031
41	lnc-SI-4	chr3:162917411-162917542	ENSG00000241369
42	lnc-SI-4	chr3:162905018-162905052	NONHSAT093031
43	lnc-OTOL1-2	chr3:162946486-162946540	NONHSAT093026
44	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
45	lnc-SI-4	chr3:162967053-162967162	ENSG00000241369
46	lnc-SI-4	chr3:162937889-162937975	ENSG00000241369
47	lnc-OTOL1-2	chr3:162925763-162925882	ENSG00000241168.1

No data

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

Extended variants
information (count: 1136 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1136 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139411944	chr3:162858012-162858013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374441912	chr3:162858089-162858090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114326808	chr3:162858103-162858104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149877417	chr3:162858104-162858105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118025817	chr3:162858109-162858110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558844974	chr3:162858125-162858126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369556559	chr3:162858129-162858130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73876648	chr3:162858236-162858237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535283879	chr3:162858237-162858238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371738751	chr3:162858264-162858265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189495747	chr3:162858277-162858278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181678079	chr3:162858314-162858315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6800836	chr3:162858381-162858382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13060277	chr3:162858382-162858383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576208258	chr3:162858474-162858475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185967948	chr3:162858528-162858529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565072069	chr3:162858555-162858556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569010442	chr3:162858640-162858641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372071900	chr3:162858682-162858683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34784505	chr3:162858735-162858736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs386667751	chr3:162858774-162858775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13083126	chr3:162858775-162858776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529761272	chr3:162858786-162858787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552778678	chr3:162889816-162889817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370782256	chr3:162889847-162889848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370227461	chr3:162889856-162889857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373720986	chr3:162889943-162889944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183502845	chr3:162890011-162890012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138695682	chr3:162890041-162890042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149355205	chr3:162890042-162890043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188573706	chr3:162890048-162890049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578036786	chr3:162890057-162890058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544891398	chr3:162890058-162890059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147473388	chr3:162890066-162890067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376084011	chr3:162890074-162890075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181036846	chr3:162890092-162890093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529929288	chr3:162890114-162890115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139985324	chr3:162890160-162890161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563466873	chr3:162890171-162890172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532385536	chr3:162890175-162890176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552258387	chr3:162890190-162890191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565805573	chr3:162890232-162890233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186331895	chr3:162890255-162890256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547863489	chr3:162890284-162890285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143992280	chr3:162890338-162890339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190399778	chr3:162890368-162890369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557272863	chr3:162890394-162890395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181674604	chr3:162890412-162890413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13094605	chr3:162890453-162890454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539647304	chr3:162890483-162890484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162858000-162858800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:162889800-162894200	Weak transcription	Fetal Heart	heart
3	chr3:162892200-162892400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:162892200-162892800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:162892200-162892800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:162892800-162893800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:162893800-162894000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:162894200-162895200	Enhancers	Fetal Heart	heart
9	chr3:162904600-162905000	ZNF genes & repeats	Dnd41	blood
10	chr3:162914400-162915000	Enhancers	Dnd41	blood
11	chr3:162936400-162950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:162947400-162954200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:162953800-162954800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:162954200-162954800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:162954200-162954800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr3:162975800-162976200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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