Variant report

Variant	nsv592137
Chromosome Location	chr3:161417866-161547644
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	ATF2	chr3:161488305-161488790	GM12878	blood:	n/a	n/a
2	ATF2	chr3:161488337-161488752	GM12878	blood:	n/a	n/a
3	BACH1	chr3:161504615-161504661	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr3:161541802-161541998	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr3:161488271-161488720	GM12878	blood:	n/a	n/a
6	BATF	chr3:161418795-161419108	GM12878	blood:	n/a	chr3:161418926-161418937
7	BCL11A	chr3:161488389-161488674	GM12878	blood:	n/a	n/a
8	BCL11A	chr3:161488253-161488765	GM12878	blood:	n/a	n/a
9	BCL3	chr3:161488407-161488728	GM12878	blood:	n/a	n/a
10	BCLAF1	chr3:161488182-161488765	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:161488384-161489161	GM12878	blood:	n/a	n/a
12	CEBPB	chr3:161529582-161529777	MCF-7	breast:	n/a	n/a
13	CEBPB	chr3:161511048-161511487	A549	lung:	n/a	n/a
14	CEBPB	chr3:161477731-161477931	HepG2	liver:	n/a	n/a
15	CEBPB	chr3:161455952-161456211	IMR90	lung:	n/a	n/a
16	CEBPB	chr3:161529517-161529827	IMR90	lung:	n/a	n/a
17	CEBPB	chr3:161434452-161434636	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr3:161488287-161488818	GM12878	blood:	n/a	n/a
19	CEBPB	chr3:161456021-161456143	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr3:161477709-161477941	A549	lung:	n/a	n/a
21	CEBPB	chr3:161539040-161539599	MCF-7	breast:	n/a	chr3:161539354-161539363 chr3:161539354-161539363 chr3:161539354-161539363
22	CEBPB	chr3:161434515-161434579	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr3:161456026-161456063	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr3:161529583-161529774	K562	blood:	n/a	n/a
25	CEBPB	chr3:161539263-161539518	H1-hESC	embryonic stem cell:	n/a	chr3:161539354-161539363 chr3:161539354-161539363 chr3:161539354-161539363
26	CEBPB	chr3:161508558-161508610	A549	lung:	n/a	n/a
27	CEBPB	chr3:161539192-161539511	A549	lung:	n/a	chr3:161539354-161539363 chr3:161539354-161539363 chr3:161539354-161539363
28	CEBPB	chr3:161539202-161539496	IMR90	lung:	n/a	chr3:161539354-161539363 chr3:161539354-161539363 chr3:161539354-161539363
29	CEBPB	chr3:161539126-161539564	A549	lung:	n/a	chr3:161539354-161539363 chr3:161539354-161539363 chr3:161539354-161539363
30	CEBPB	chr3:161511062-161511366	A549	lung:	n/a	n/a
31	CEBPB	chr3:161539178-161539513	HepG2	liver:	n/a	chr3:161539354-161539363 chr3:161539354-161539363 chr3:161539354-161539363
32	CEBPB	chr3:161434031-161434132	H1-hESC	embryonic stem cell:	n/a	chr3:161434032-161434045
33	CEBPB	chr3:161455943-161456209	HepG2	liver:	n/a	n/a
34	CEBPB	chr3:161539002-161539550	MCF-7	breast:	n/a	chr3:161539354-161539363 chr3:161539354-161539363 chr3:161539354-161539363
35	CEBPB	chr3:161529555-161529754	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr3:161477631-161477939	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr3:161455871-161456197	A549	lung:	n/a	n/a
38	CHD1	chr3:161418793-161418872	GM12878	blood:	n/a	n/a
39	CHD2	chr3:161488043-161488771	GM12878	blood:	n/a	n/a
40	CREB1	chr3:161488226-161488772	GM12878	blood:	n/a	n/a
41	CTCF	chr3:161419000-161419150	GM12872	blood:	n/a	n/a
42	CTCF	chr3:161419050-161419167	GM19238	blood:	n/a	n/a
43	CTCF	chr3:161419040-161419190	GM12874	blood:	n/a	n/a
44	CTCF	chr3:161439418-161439440	ProgFib	skin:	n/a	n/a
45	CTCF	chr3:161470234-161470428	MCF-7	breast:	n/a	chr3:161470333-161470351
46	CTCF	chr3:161418852-161418913	MCF-7	breast:	n/a	n/a
47	CTCF	chr3:161419079-161419159	Medullo	brain:	n/a	n/a
48	CTCF	chr3:161488360-161488510	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr3:161419040-161419180	MCF-7	breast:	n/a	n/a
50	CTCF	chr3:161488220-161488370	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:161472760..161474501-chr3:161478505..161480497,2	K562	blood:
2	chr3:161469489..161471513-chr3:161473255..161475165,2	K562	blood:
3	chr3:161547471..161549402-chr3:161554856..161557293,2	MCF-7	breast:
4	chr3:161277802..161278537-chr3:161469868..161470746,2	MCF-7	breast:
5	chr3:161518824..161521549-chr3:161537494..161539506,2	MCF-7	breast:
6	chr3:161545972..161548808-chr3:161568962..161570462,2	MCF-7	breast:
7	chr16:89006271..89008204-chr3:161471043..161472567,2	MCF-7	breast:
8	chr3:161472760..161474501-chr3:161478505..161480497,2	K562	blood:
9	chr3:161518824..161521549-chr3:161537494..161539506,2	MCF-7	breast:
10	chr3:161536736..161539708-chr3:161543704..161546343,4	MCF-7	breast:
11	chr3:161469489..161471513-chr3:161473255..161475165,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTSSB-1	chr3:161539485-161539696	XLOC_003310
2	lnc-OTOL1-6	chr3:161441001-161441074	NONHSAT093019
3	lnc-SPTSSB-1	chr3:161534697-161534967	XLOC_003310
4	lnc-OTOL1-6	chr3:161441260-161441395	NONHSAT093019

Variant related genes	Relation type
ENSG00000240354	TF binding region
ENSG00000240354	chromatin interactions
ENSG00000129993	chromatin interactions

Extended variants
information (count: 2593 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2593 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9848511	chr3:161417866-161417867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555181684	chr3:161417876-161417877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149063926	chr3:161417878-161417879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537659719	chr3:161417912-161417913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543851361	chr3:161417968-161417969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183122386	chr3:161417998-161417999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147125630	chr3:161418805-161418806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79490037	chr3:161418806-161418807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571911673	chr3:161418887-161418888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540645797	chr3:161418894-161418895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114662867	chr3:161418952-161418953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574400162	chr3:161418966-161418967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148676263	chr3:161424814-161424815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546218893	chr3:161424816-161424817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559815229	chr3:161424828-161424829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12493614	chr3:161424842-161424843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548868687	chr3:161424843-161424844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568758587	chr3:161424919-161424920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182244933	chr3:161424943-161424944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147813217	chr3:161424945-161424946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139573728	chr3:161424972-161424973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567401143	chr3:161425003-161425004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528384059	chr3:161425024-161425025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370465880	chr3:161425048-161425049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553955080	chr3:161425058-161425059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546616087	chr3:161425090-161425091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565302670	chr3:161425093-161425094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145101357	chr3:161425104-161425105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554518556	chr3:161425110-161425111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34270136	chr3:161425112-161425113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78336597	chr3:161425113-161425114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536842610	chr3:161425132-161425133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557166039	chr3:161425134-161425135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187210309	chr3:161425160-161425161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11924373	chr3:161425171-161425172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190840877	chr3:161425186-161425187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376640579	chr3:161425272-161425273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115060187	chr3:161425273-161425274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575702412	chr3:161425286-161425287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537938188	chr3:161425292-161425293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114098712	chr3:161425309-161425310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562204283	chr3:161425326-161425327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557063189	chr3:161425337-161425338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531277537	chr3:161425355-161425356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542613272	chr3:161428809-161428810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556143946	chr3:161428813-161428814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555360366	chr3:161428814-161428815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575972200	chr3:161428854-161428855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544800677	chr3:161428867-161428868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564769801	chr3:161428883-161428884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161417200-161418000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:161418800-161419000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:161418800-161419000	Enhancers	Pancreas	Pancrea
4	chr3:161424800-161425200	Enhancers	Gastric	stomach
5	chr3:161425000-161425200	Enhancers	HepG2	liver
6	chr3:161425000-161425400	Enhancers	Placenta	Placenta
7	chr3:161428800-161431200	Weak transcription	Fetal Heart	heart
8	chr3:161434600-161436200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:161435000-161435800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:161438400-161439800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:161438600-161439400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:161438800-161439000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:161439400-161441800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:161439600-161439800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:161439600-161439800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:161439800-161443000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:161439800-161444600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:161441800-161447200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:161443000-161443600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:161444200-161445200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr3:161444600-161445200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr3:161444600-161445200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr3:161445200-161446600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:161445400-161446000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:161445400-161446200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:161446600-161447800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:161447800-161448200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:161454200-161455400	Enhancers	Liver	Liver
29	chr3:161454400-161455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:161454800-161455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:161455000-161455600	Enhancers	Dnd41	blood
32	chr3:161455200-161455600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr3:161457200-161459200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:161457200-161459400	Enhancers	Fetal Lung	lung
35	chr3:161457600-161458800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:161458800-161459000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:161459000-161459400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:161463400-161464600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:161473400-161474000	Enhancers	Dnd41	blood
43	chr3:161474000-161476400	Weak transcription	Dnd41	blood
44	chr3:161476400-161477800	Enhancers	Dnd41	blood
45	chr3:161476600-161476800	Enhancers	Placenta	Placenta
46	chr3:161477400-161477600	Enhancers	Placenta	Placenta
47	chr3:161483400-161484200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr3:161483800-161484800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:161483800-161485000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:161484200-161484600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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