Variant report

Variant	nsv877237
Chromosome Location	chr3:102924004-103035266
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	chr3:102936808-102937519	GM12878	blood:	n/a	n/a
2	ATF2	chr3:102936818-102937806	GM12878	blood:	n/a	n/a
3	BATF	chr3:102936937-102937408	GM12878	blood:	n/a	n/a
4	BATF	chr3:102936907-102937418	GM12878	blood:	n/a	n/a
5	BCL11A	chr3:102936940-102937450	GM12878	blood:	n/a	n/a
6	BCL11A	chr3:102936945-102937388	GM12878	blood:	n/a	n/a
7	BCL3	chr3:102936961-102937363	GM12878	blood:	n/a	n/a
8	BCL3	chr3:102936869-102937427	GM12878	blood:	n/a	n/a
9	BCLAF1	chr3:102936936-102937419	GM12878	blood:	n/a	n/a
10	BCLAF1	chr3:102936803-102937523	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:102936950-102937419	GM12878	blood:	n/a	n/a
12	CEBPB	chr3:102936875-102937548	GM12878	blood:	n/a	n/a
13	CEBPB	chr3:102964444-102964644	A549	lung:	n/a	n/a
14	CEBPB	chr3:102978349-102978422	HepG2	liver:	n/a	chr3:102978371-102978382
15	CEBPB	chr3:102986581-102986858	HepG2	liver:	n/a	chr3:102986733-102986744
16	CEBPB	chr3:102969289-102969582	HepG2	liver:	n/a	chr3:102969410-102969421
17	CEBPB	chr3:102986586-102986694	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr3:102937102-102937413	GM12878	blood:	n/a	n/a
19	CHD2	chr3:102936950-102937417	GM12878	blood:	n/a	n/a
20	CTCF	chr3:103027840-103027990	RPTEC	kidney:	n/a	n/a
21	CTCF	chr3:103015000-103015150	Hela-S3	cervix:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
22	CTCF	chr3:103027860-103028010	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr3:103014940-103015090	GM12865	blood:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
24	CTCF	chr3:103014860-103015010	MCF-7	breast:	n/a	n/a
25	CTCF	chr3:103014940-103015090	GM12873	blood:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
26	CTCF	chr3:103014860-103015010	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr3:103014920-103015070	HBMEC	blood vessel:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
28	CTCF	chr3:103027880-103028030	GM12866	blood:	n/a	n/a
29	CTCF	chr3:103027880-103028030	GM12864	blood:	n/a	n/a
30	CTCF	chr3:102969626-102969728	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr3:103027920-103028070	HPF	lung:	n/a	n/a
32	CTCF	chr3:103027820-103027970	GM12872	blood:	n/a	n/a
33	CTCF	chr3:103027880-103028030	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr3:103014980-103015130	RPTEC	kidney:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
35	CTCF	chr3:102971360-102971510	MCF-7	breast:	n/a	n/a
36	CTCF	chr3:103027860-103028010	AG04449	skin:	n/a	n/a
37	CTCF	chr3:103015047-103015073	GM20000	blood:	n/a	n/a
38	CTCF	chr3:103014920-103015070	GM12870	blood:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
39	CTCF	chr3:103015020-103015170	HMEC	breast:	n/a	n/a
40	CTCF	chr3:103014940-103015090	HPAF	blood vessel:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
41	CTCF	chr3:103027840-103027990	HRE	kidney:	n/a	n/a
42	CTCF	chr3:103027800-103027950	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr3:103014974-103015133	LNCaP	prostate:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
44	CTCF	chr3:103027860-103028010	BE2_C	brain:	n/a	n/a
45	CTCF	chr3:103014900-103015050	HEEpiC	esophagus:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
46	CTCF	chr3:103027780-103027930	GM12874	blood:	n/a	n/a
47	CTCF	chr3:103014936-103015130	HUVEC	blood vessel:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
48	CTCF	chr3:103014940-103015090	HL-60	blood:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
49	CTCF	chr3:103014900-103015050	NHEK	skin:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
50	CTCF	chr3:103014980-103015130	GM12868	blood:	n/a	chr3:103015012-103015033 chr3:103015010-103015028

No.	Distal block	Cell Line	Cell type
1	chr1:188479024..188479715-chr3:102939006..102939691,2	MCF-7	breast:
2	chr3:103005495..103006360-chr7:19768607..19769370,2	MCF-7	breast:
3	chr3:103014701..103015436-chr3:103328029..103328722,3	MCF-7	breast:
4	chr3:103014881..103015501-chr3:103328255..103328854,2	MCF-7	breast:
5	chr3:102464455..102465347-chr3:103014445..103015094,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPLD1-7	chr3:102959831-102960074	NONHSAT090940

Variant related genes	Relation type
NDUFA4P2	TF binding region

Extended variants
information (count: 486 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:486 , 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	rs569146375	chr3:102927807-102927808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537411220	chr3:102927810-102927811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190593208	chr3:102927811-102927812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112423959	chr3:102927818-102927819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535168195	chr3:102927877-102927878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553603993	chr3:102927896-102927897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs182833180	chr3:102927930-102927931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542496208	chr3:102927931-102927932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6802097	chr3:102927932-102927933	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538257125	chr3:102927952-102927953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116422889	chr3:102927961-102927962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140803961	chr3:102927978-102927979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185510017	chr3:102928003-102928004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535186241	chr3:102928008-102928009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528169693	chr3:102928032-102928033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs150142384	chr3:102928073-102928074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138738072	chr3:102928097-102928098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529043879	chr3:102928101-102928102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs558953093	chr3:102928132-102928133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189873065	chr3:102928149-102928150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs141870797	chr3:102928162-102928163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112764247	chr3:102928166-102928167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570908141	chr3:102928194-102928195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs146296258	chr3:102928286-102928287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376201619	chr3:102928297-102928298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs138254767	chr3:102928301-102928302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs115896784	chr3:102928314-102928315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114809416	chr3:102928319-102928320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557534325	chr3:102928331-102928332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575493130	chr3:102928332-102928333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115355185	chr3:102928333-102928334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77446303	chr3:102928343-102928344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572539494	chr3:102928344-102928345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539857927	chr3:102928353-102928354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374632729	chr3:102928354-102928355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369600333	chr3:102928395-102928396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114251616	chr3:102928399-102928400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529346899	chr3:102929047-102929048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79507524	chr3:102929055-102929056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569024868	chr3:102929063-102929064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149062929	chr3:102929097-102929098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576969614	chr3:102929102-102929103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535402292	chr3:102929122-102929123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188569812	chr3:102929215-102929216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191897164	chr3:102929233-102929234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143115073	chr3:102929237-102929238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573612719	chr3:102929247-102929248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540801410	chr3:102929288-102929289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556261458	chr3:102929289-102929290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577837154	chr3:102929362-102929363	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102927800-102928400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:102929000-102929800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:102936200-102937800	Enhancers	GM12878-XiMat	blood
4	chr3:102936600-102937800	Enhancers	Dnd41	blood
5	chr3:102937000-102937800	Enhancers	NH-A	brain
6	chr3:102938800-102939000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:102938800-102939000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:102939000-102939200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:102939000-102939400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:102939200-102939600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:102961200-102962200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:102971400-102971600	Enhancers	Esophagus	oesophagus
13	chr3:102990200-102990400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:103010200-103010400	Enhancers	Fetal Brain Male	brain
15	chr3:103010400-103011000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:103010400-103011000	Weak transcription	Fetal Brain Male	brain
17	chr3:103010600-103011400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:103011000-103011800	Enhancers	Fetal Brain Male	brain
19	chr3:103011800-103012400	Weak transcription	Fetal Brain Male	brain
20	chr3:103013600-103013800	Enhancers	Fetal Brain Male	brain
21	chr3:103025000-103025400	Enhancers	Fetal Lung	lung
22	chr3:103027600-103028200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:103027800-103028200	Enhancers	HUES48 Cell Line	embryonic stem cell

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