Variant report

Variant	nsv590997
Chromosome Location	chr3:94865957-94918524
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	BATF	chr3:94867079-94867278	GM12878	blood:	n/a	chr3:94867158-94867169
2	BRCA1	chr3:94916763-94916781	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:94880997-94881305	HepG2	liver:	n/a	chr3:94881115-94881128 chr3:94881115-94881128 chr3:94881117-94881126 chr3:94881116-94881127 chr3:94881115-94881128 chr3:94881115-94881126
4	CEBPB	chr3:94908204-94908562	IMR90	lung:	n/a	chr3:94908377-94908386 chr3:94908375-94908386 chr3:94908375-94908388 chr3:94908377-94908388 chr3:94908487-94908499 chr3:94908377-94908386 chr3:94908375-94908388 chr3:94908377-94908386 chr3:94908372-94908389 chr3:94908377-94908386
5	CEBPB	chr3:94908207-94908561	HepG2	liver:	n/a	chr3:94908377-94908386 chr3:94908375-94908386 chr3:94908375-94908388 chr3:94908377-94908388 chr3:94908487-94908499 chr3:94908377-94908386 chr3:94908375-94908388 chr3:94908377-94908386 chr3:94908372-94908389 chr3:94908377-94908386
6	CEBPB	chr3:94880952-94881302	A549	lung:	n/a	chr3:94881115-94881128 chr3:94881115-94881128 chr3:94881117-94881126 chr3:94881116-94881127 chr3:94881115-94881128 chr3:94881115-94881126
7	CEBPB	chr3:94873659-94874133	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr3:94873551-94874188	MCF-7	breast:	n/a	n/a
9	CEBPB	chr3:94908276-94908544	K562	blood:	n/a	chr3:94908377-94908386 chr3:94908375-94908386 chr3:94908375-94908388 chr3:94908377-94908388 chr3:94908487-94908499 chr3:94908377-94908386 chr3:94908375-94908388 chr3:94908377-94908386 chr3:94908372-94908389 chr3:94908377-94908386
10	CEBPB	chr3:94873555-94874070	MCF-7	breast:	n/a	n/a
11	CEBPB	chr3:94908217-94908539	A549	lung:	n/a	chr3:94908377-94908386 chr3:94908375-94908386 chr3:94908375-94908388 chr3:94908377-94908388 chr3:94908487-94908499 chr3:94908377-94908386 chr3:94908375-94908388 chr3:94908377-94908386 chr3:94908372-94908389 chr3:94908377-94908386
12	CTCF	chr3:94902951-94903139	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:94902969-94903136	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:94902960-94903110	HepG2	liver:	n/a	n/a
15	CTCF	chr3:94902951-94903127	Gliobla	brain:	n/a	n/a
16	CTCF	chr3:94902943-94903149	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:94902900-94903050	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:94891000-94891150	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:94902994-94903102	GM12892	blood:	n/a	n/a
20	CTCF	chr3:94902937-94903191	GM12878	blood:	n/a	n/a
21	CTCF	chr3:94902945-94903131	HepG2	liver:	n/a	n/a
22	CTCF	chr3:94902900-94903050	GM12878	blood:	n/a	n/a
23	CTCF	chr3:94870776-94870809	GM13976	blood:	n/a	n/a
24	CTCF	chr3:94900820-94900858	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr3:94902980-94903130	GM12875	blood:	n/a	n/a
26	CTCF	chr3:94902980-94903130	K562	blood:	n/a	n/a
27	CTCF	chr3:94902980-94903130	HEK293	kidney:	n/a	n/a
28	CTCF	chr3:94891040-94891190	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr3:94902919-94903180	K562	blood:	n/a	n/a
30	CTCF	chr3:94902920-94903070	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr3:94891140-94891290	RPTEC	kidney:	n/a	n/a
32	CTCF	chr3:94902900-94903050	A549	lung:	n/a	n/a
33	CTCF	chr3:94891040-94891190	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr3:94902980-94903130	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr3:94902980-94903130	HepG2	liver:	n/a	n/a
36	CTCF	chr3:94902920-94903070	GM12872	blood:	n/a	n/a
37	CTCF	chr3:94902939-94903113	HepG2	liver:	n/a	n/a
38	CTCF	chr3:94891020-94891170	HRE	kidney:	n/a	n/a
39	CTCF	chr3:94891080-94891230	RPTEC	kidney:	n/a	n/a
40	CTCF	chr3:94891048-94891194	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:94903020-94903170	MCF-7	breast:	n/a	n/a
42	CTCF	chr3:94903002-94903066	A549	lung:	n/a	n/a
43	CTCF	chr3:94891065-94891193	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:94902959-94903153	MCF-7	breast:	n/a	n/a
45	CTCF	chr3:94903031-94903125	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr3:94891049-94891134	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr3:94901753-94901799	GM20000	blood:	n/a	n/a
48	CTCF	chr3:94902966-94903154	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:94903021-94903076	GM12891	blood:	n/a	n/a
50	CTCF	chr3:94901413-94901515	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:94881976..94883745-chr3:94887711..94889312,2	K562	blood:
2	chr3:94881976..94883745-chr3:94887711..94889312,2	K562	blood:
3	chr3:94912857..94914770-chr3:94921596..94924370,2	MCF-7	breast:
4	chr3:94877501..94880060-chr3:94881740..94883902,2	MCF-7	breast:
5	chr3:94877501..94880060-chr3:94881740..94883902,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN3-1	chr3:94870874-94871353	ENSG00000239589
2	lnc-NSUN3-1	chr3:94890764-94891221	NONHSAT090744

Variant related genes	Relation type
RPS18P6	TF binding region

Extended variants
information (count: 461 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9861253	chr3:94865957-94865958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551983466	chr3:94865994-94865995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112960280	chr3:94866024-94866025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537384127	chr3:94866036-94866037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4106684	chr3:94866070-94866071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75974558	chr3:94866071-94866072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75210777	chr3:94866087-94866088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553164808	chr3:94866098-94866099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573303422	chr3:94866120-94866121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540964984	chr3:94866122-94866123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534503765	chr3:94866151-94866152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117262539	chr3:94866164-94866165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373986421	chr3:94866170-94866171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145770474	chr3:94866185-94866186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543354510	chr3:94866187-94866188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563253725	chr3:94866207-94866208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559117094	chr3:94866209-94866210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115727531	chr3:94866212-94866213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542621636	chr3:94866255-94866256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559165727	chr3:94866435-94866436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9810121	chr3:94866440-94866441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs386663462	chr3:94866471-94866472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3907753	chr3:94866474-94866475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531136391	chr3:94866492-94866493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552267315	chr3:94866493-94866494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76723173	chr3:94866527-94866528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141089347	chr3:94866565-94866566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200027875	chr3:94866577-94866578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143071389	chr3:94866578-94866579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67229176	chr3:94866579-94866580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76610495	chr3:94866580-94866581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72916641	chr3:94866588-94866589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183815949	chr3:94866594-94866595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13075156	chr3:94866612-94866613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566833245	chr3:94866622-94866623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74617514	chr3:94866629-94866630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550614949	chr3:94866650-94866651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558656368	chr3:94866744-94866745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138482853	chr3:94866746-94866747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78972881	chr3:94866804-94866805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536866498	chr3:94866869-94866870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536071987	chr3:94866871-94866872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556800996	chr3:94866881-94866882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573630003	chr3:94866882-94866883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72615782	chr3:94866908-94866909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4437143	chr3:94866966-94866967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572841769	chr3:94867008-94867009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537181164	chr3:94867020-94867021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564975630	chr3:94867039-94867040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145021694	chr3:94867046-94867047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94865200-94870400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:94865200-94870400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:94865200-94870400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:94865400-94870400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:94870200-94870600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:94870200-94871000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:94870400-94870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:94870400-94870800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:94870400-94870800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:94870400-94870800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:94870400-94870800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:94870400-94871000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:94870400-94871000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:94870800-94873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:94873200-94874400	Enhancers	Hela-S3	cervix
16	chr3:94873400-94874400	Enhancers	NH-A	brain
17	chr3:94873600-94873800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:94873600-94873800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:94891000-94892000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:94891200-94891800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:94891400-94891800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:94891400-94891800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:94891400-94891800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:94891400-94891800	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:94891600-94891800	Enhancers	Liver	Liver
26	chr3:94902800-94903800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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