Variant report

Variant	nsv5896
Chromosome Location	chr7:109398684-109473041
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	CEBPB	chr7:109422895-109423105	HepG2	liver:	n/a	n/a
2	CTCF	chr7:109436471-109436527	GM13976	blood:	n/a	n/a
3	CTCF	chr7:109411712-109411753	GM20000	blood:	n/a	chr7:109411725-109411733
4	CTCF	chr7:109405220-109405370	HEEpiC	esophagus:	n/a	n/a
5	CTCF	chr7:109424302-109424428	GM13977	blood:	n/a	n/a
6	CTCF	chr7:109461700-109461850	K562	blood:	n/a	n/a
7	CTCF	chr7:109441320-109441406	GM20000	blood:	n/a	n/a
8	CTCF	chr7:109412820-109412970	BE2_C	brain:	n/a	n/a
9	ELK1	chr7:109427952-109427964	GM12878	blood:	n/a	n/a
10	EP300	chr7:109471158-109471461	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr7:109471058-109471629	SK-N-SH	brain:	n/a	n/a
12	FAM48A	chr7:109410294-109410385	GM12878	blood:	n/a	n/a
13	FOS	chr7:109403686-109404028	MCF10A-Er-Src	breast:	n/a	chr7:109403844-109403854 chr7:109403845-109403854 chr7:109403846-109403853 chr7:109403845-109403853
14	FOS	chr7:109403681-109404041	MCF10A-Er-Src	breast:	n/a	chr7:109403844-109403854 chr7:109403845-109403854 chr7:109403846-109403853 chr7:109403845-109403853
15	FOS	chr7:109403675-109404040	MCF10A-Er-Src	breast:	n/a	chr7:109403844-109403854 chr7:109403845-109403854 chr7:109403846-109403853 chr7:109403845-109403853
16	FOS	chr7:109432981-109433044	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr7:109403637-109404041	MCF10A-Er-Src	breast:	n/a	chr7:109403844-109403854 chr7:109403845-109403854 chr7:109403846-109403853 chr7:109403845-109403853
18	FOXA2	chr7:109435218-109435632	A549	lung:	n/a	n/a
19	GABPA	chr7:109424291-109424431	GM12878	blood:	n/a	n/a
20	GATA3	chr7:109410467-109410506	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr7:109419244-109419672	MCF-7	breast:	n/a	chr7:109419579-109419586 chr7:109419579-109419586 chr7:109419442-109419452 chr7:109419579-109419586 chr7:109419494-109419502 chr7:109419578-109419588 chr7:109419577-109419589
22	GATA3	chr7:109462035-109462137	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr7:109419422-109419699	SH-SY5Y	brain:	n/a	chr7:109419579-109419586 chr7:109419579-109419586 chr7:109419442-109419452 chr7:109419579-109419586 chr7:109419494-109419502 chr7:109419578-109419588 chr7:109419577-109419589
24	GATA3	chr7:109409675-109409789	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr7:109416684-109416726	SH-SY5Y	brain:	n/a	n/a
26	JUN	chr7:109457613-109457622	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUN	chr7:109470192-109470392	K562	blood:	n/a	n/a
28	JUN	chr7:109466953-109466966	K562	blood:	n/a	n/a
29	JUN	chr7:109446648-109446928	HepG2	liver:	n/a	n/a
30	JUN	chr7:109405972-109406027	K562	blood:	n/a	n/a
31	JUN	chr7:109411335-109411345	K562	blood:	n/a	n/a
32	JUND	chr7:109403662-109404023	Hela-S3	cervix:	n/a	chr7:109403844-109403854 chr7:109403845-109403854 chr7:109403846-109403853 chr7:109403845-109403853
33	JUND	chr7:109470014-109470180	HepG2	liver:	n/a	chr7:109470082-109470093
34	JUND	chr7:109446642-109446973	HepG2	liver:	n/a	n/a
35	JUND	chr7:109432746-109433241	SK-N-SH	brain:	n/a	chr7:109433061-109433072
36	JUND	chr7:109432913-109433138	HepG2	liver:	n/a	chr7:109433061-109433072
37	JUND	chr7:109446455-109447143	SK-N-SH	brain:	n/a	n/a
38	KAP1	chr7:109429628-109430111	K562	blood:	n/a	n/a
39	KAP1	chr7:109459205-109459427	K562	blood:	n/a	n/a
40	KAP1	chr7:109428937-109429408	K562	blood:	n/a	n/a
41	MAFF	chr7:109409826-109410008	HepG2	liver:	n/a	n/a
42	MAFF	chr7:109461642-109461842	HepG2	liver:	n/a	chr7:109461681-109461699
43	MAFK	chr7:109409815-109409963	HepG2	liver:	n/a	chr7:109409910-109409921 chr7:109409910-109409926
44	MAX	chr7:109422860-109423142	NB4	blood:	n/a	n/a
45	MAX	chr7:109404871-109405067	NB4	blood:	n/a	n/a
46	MAX	chr7:109458617-109458626	NB4	blood:	n/a	n/a
47	MXI1	chr7:109410094-109410102	Hela-S3	cervix:	n/a	n/a
48	MYC	chr7:109448327-109448375	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr7:109400580-109400768	MCF-7	breast:	n/a	n/a
50	MYC	chr7:109425907-109425963	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:54797543..54800025-chr7:109465690..109468488,2	MCF-7	breast:
2	chr7:109390518..109392433-chr7:109399277..109400899,2	K562	blood:
3	chr12:95693010..95693732-chr7:109461830..109462660,2	MCF-7	breast:
4	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:
5	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJB9-6	chr7:109403631-109404414	NONHSAT122756

Variant related genes	Relation type
ENSG00000271368	TF binding region

Extended variants
information (count: 1101 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1101 , 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	rs555712430	chr7:109398704-109398705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548805114	chr7:109398710-109398711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568742159	chr7:109398764-109398765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182332164	chr7:109398789-109398790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557672705	chr7:109398837-109398838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577149836	chr7:109398856-109398857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377418307	chr7:109398865-109398866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573986203	chr7:109398874-109398875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553043292	chr7:109398878-109398879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35824148	chr7:109398907-109398908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151158093	chr7:109398935-109398936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35662884	chr7:109398946-109398947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559314511	chr7:109398964-109398965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139696925	chr7:109399091-109399092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34007645	chr7:109399103-109399104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113370709	chr7:109399123-109399124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144394841	chr7:109399223-109399224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146648083	chr7:109399236-109399237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141412832	chr7:109399291-109399292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376126170	chr7:109399326-109399327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117178628	chr7:109399336-109399337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150201271	chr7:109399340-109399341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145722026	chr7:109399341-109399342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529020468	chr7:109399342-109399343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370767898	chr7:109399371-109399372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186994349	chr7:109399405-109399406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148920194	chr7:109399427-109399428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559224544	chr7:109399428-109399429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531165907	chr7:109399477-109399478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550991673	chr7:109399479-109399480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193007078	chr7:109399514-109399515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539411263	chr7:109399528-109399529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552951273	chr7:109399533-109399534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566595815	chr7:109399534-109399535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535567141	chr7:109399555-109399556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143715110	chr7:109399565-109399566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148101416	chr7:109399610-109399611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112856050	chr7:109399653-109399654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146979259	chr7:109399677-109399678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563013239	chr7:109399680-109399681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577873526	chr7:109399684-109399685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570424865	chr7:109399694-109399695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530604505	chr7:109399711-109399712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138220655	chr7:109399779-109399780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143751630	chr7:109399828-109399829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78654436	chr7:109399831-109399832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539170149	chr7:109399846-109399847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183401660	chr7:109399864-109399865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534608534	chr7:109399960-109399961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548837015	chr7:109399993-109399994	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109396800-109400000	Enhancers	Dnd41	blood
2	chr7:109400000-109401400	ZNF genes & repeats	Dnd41	blood
3	chr7:109401400-109406200	Weak transcription	Dnd41	blood
4	chr7:109403600-109404400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:109403800-109407600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:109408800-109410400	Weak transcription	Dnd41	blood
7	chr7:109410400-109410800	Enhancers	Dnd41	blood
8	chr7:109410800-109412400	Weak transcription	Dnd41	blood
9	chr7:109412200-109412800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:109412400-109412600	Enhancers	Dnd41	blood
11	chr7:109412400-109412800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:109412400-109413200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:109415600-109416800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:109419400-109419600	Enhancers	Dnd41	blood
15	chr7:109419600-109420600	Weak transcription	Dnd41	blood
16	chr7:109420600-109422600	Enhancers	Dnd41	blood
17	chr7:109422600-109422800	Flanking Active TSS	Dnd41	blood
18	chr7:109422800-109423000	Enhancers	Dnd41	blood
19	chr7:109423000-109423200	Flanking Active TSS	Dnd41	blood
20	chr7:109423200-109425600	Enhancers	Dnd41	blood
21	chr7:109434600-109435200	ZNF genes & repeats	Dnd41	blood
22	chr7:109435000-109435400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:109435200-109435800	Weak transcription	Dnd41	blood
24	chr7:109435800-109436000	Enhancers	Dnd41	blood
25	chr7:109463000-109463600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:109463200-109463600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:109465600-109466800	ZNF genes & repeats	Dnd41	blood
28	chr7:109466800-109467000	Enhancers	Dnd41	blood

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