Variant report

Variant	nsv971846
Chromosome Location	chr10:37892555-37937603
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	ARID3A	chr10:37912411-37912739	HepG2	liver:	n/a	n/a
2	BHLHE40	chr10:37921045-37921131	GM12878	blood:	n/a	n/a
3	BHLHE40	chr10:37912494-37912863	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:37906096-37906427	HepG2	liver:	n/a	chr10:37906265-37906276 chr10:37906264-37906275 chr10:37906266-37906275
5	CEBPB	chr10:37903150-37903203	HepG2	liver:	n/a	chr10:37903186-37903197
6	CTCF	chr10:37911420-37911570	HepG2	liver:	n/a	n/a
7	CTCF	chr10:37931091-37931143	Medullo	brain:	n/a	n/a
8	CTCF	chr10:37933725-37933749	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr10:37937203-37937243	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr10:37935100-37935250	NB4	blood:	n/a	n/a
11	EP300	chr10:37912538-37912747	HepG2	liver:	n/a	n/a
12	EP300	chr10:37912502-37912831	HepG2	liver:	n/a	n/a
13	EP300	chr10:37912479-37912769	HepG2	liver:	n/a	n/a
14	FOXA1	chr10:37912423-37912780	HepG2	liver:	n/a	n/a
15	FOXA1	chr10:37912356-37912811	HepG2	liver:	n/a	n/a
16	FOXA1	chr10:37912351-37912825	HepG2	liver:	n/a	n/a
17	FOXA1	chr10:37927274-37927504	HepG2	liver:	n/a	n/a
18	FOXA1	chr10:37912356-37912842	HepG2	liver:	n/a	n/a
19	FOXA2	chr10:37912418-37912798	HepG2	liver:	n/a	n/a
20	HNF4A	chr10:37912433-37912779	HepG2	liver:	n/a	chr10:37912664-37912679 chr10:37912671-37912679 chr10:37912666-37912678 chr10:37912614-37912632 chr10:37912615-37912630 chr10:37912665-37912680 chr10:37912615-37912630 chr10:37912665-37912680 chr10:37912666-37912679
21	HNF4A	chr10:37912385-37912775	HepG2	liver:	n/a	chr10:37912664-37912679 chr10:37912671-37912679 chr10:37912666-37912678 chr10:37912614-37912632 chr10:37912615-37912630 chr10:37912665-37912680 chr10:37912615-37912630 chr10:37912665-37912680 chr10:37912666-37912679
22	HNF4G	chr10:37912417-37912827	HepG2	liver:	n/a	chr10:37912671-37912679 chr10:37912663-37912678 chr10:37912666-37912678 chr10:37912614-37912632 chr10:37912615-37912630 chr10:37912616-37912631 chr10:37912665-37912680 chr10:37912615-37912630 chr10:37912665-37912680 chr10:37912666-37912679
23	HNF4G	chr10:37912471-37912797	HepG2	liver:	n/a	chr10:37912671-37912679 chr10:37912663-37912678 chr10:37912666-37912678 chr10:37912614-37912632 chr10:37912615-37912630 chr10:37912616-37912631 chr10:37912665-37912680 chr10:37912615-37912630 chr10:37912665-37912680 chr10:37912666-37912679
24	KAP1	chr10:37925754-37926272	HEK293	kidney:	n/a	n/a
25	MAFK	chr10:37912410-37912606	HepG2	liver:	n/a	n/a
26	MAFK	chr10:37892937-37892939	HepG2	liver:	n/a	n/a
27	MAX	chr10:37921068-37921289	NB4	blood:	n/a	n/a
28	MAX	chr10:37914075-37914264	NB4	blood:	n/a	n/a
29	MAX	chr10:37916650-37916797	NB4	blood:	n/a	chr10:37916678-37916688
30	MAX	chr10:37905817-37905879	NB4	blood:	n/a	n/a
31	MAX	chr10:37901369-37901774	NB4	blood:	n/a	chr10:37901605-37901615
32	MYC	chr10:37909797-37910019	NB4	blood:	n/a	n/a
33	MYC	chr10:37905894-37906048	NB4	blood:	n/a	n/a
34	POLR2A	chr10:37906651-37906754	MCF-7	breast:	n/a	n/a
35	POLR2A	chr10:37906711-37906738	Gliobla	brain:	n/a	n/a
36	POLR2A	chr10:37932286-37932337	Gliobla	brain:	n/a	n/a
37	POLR2A	chr10:37926002-37926017	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:37931580-37931610	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:37923216-37923289	MCF-7	breast:	n/a	n/a
40	POLR2A	chr10:37925890-37925997	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:37892993-37893193	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr10:37928297-37928508	MCF-7	breast:	n/a	n/a
43	POLR2A	chr10:37929745-37929953	GM12878	blood:	n/a	n/a
44	POLR2A	chr10:37914065-37914082	MCF-7	breast:	n/a	n/a
45	POLR2A	chr10:37906628-37906660	Gliobla	brain:	n/a	n/a
46	POLR2A	chr10:37906678-37906702	Gliobla	brain:	n/a	n/a
47	RCOR1	chr10:37912390-37912684	HepG2	liver:	n/a	n/a
48	SETDB1	chr10:37925848-37926278	U2OS	brain:	n/a	n/a
49	SMC3	chr10:37912515-37912587	HepG2	liver:	n/a	n/a
50	SP1	chr10:37912437-37912845	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:37936967-37937017	ovcar-3	ovarian:	n/a
2	chr10:37936967-37937017	NHDF-neo	bronchial:	n/a
3	chr10:37936967-37937017	AG04449	skin:	fetal
4	chr10:37936967-37937017	A549	lung:	n/a
5	chr10:37936967-37937017	LNCaP	prostate:	n/a
6	chr10:37936967-37937017	SAEC	small airway:	n/a
7	chr10:37936967-37937017	T-47D	breast:	n/a
8	chr10:37936967-37937017	HCT-116	colon:	n/a
9	chr10:37936967-37937017	AG04450	lung:	fetal
10	chr10:37936967-37937017	SK-N-SH_RA	brain:	n/a
11	chr10:37936967-37937017	GM12891	blood:	n/a
12	chr10:37936967-37937017	SKMC	muscle:	n/a
13	chr10:37936967-37937017	NT2-D1	testis:	n/a
14	chr10:37936967-37937017	PFSK-1	brain:	n/a
15	chr10:37936967-37937017	HUVEC	blood vessel:	n/a
16	chr10:37936967-37937017	Hela-S3	cervix:	n/a
17	chr10:37936967-37937017	RPTEC	kidney:	n/a
18	chr10:37936967-37937017	BE2_C	brain:	n/a
19	chr10:37936967-37937017	AG09309	skin:	n/a
20	chr10:37936967-37937017	GM06990	blood:	n/a
21	chr10:37936967-37937017	GM12892	blood:	n/a
22	chr10:37936967-37937017	HepG2	liver:	n/a
23	chr10:37936967-37937017	HAEpiC	amniotic membrane:	n/a
24	chr10:37936967-37937017	ECC-1	luminal epithelium:	n/a
25	chr10:37936967-37937017	Jurkat	blood:	n/a
26	chr10:37936967-37937017	HCF	heart:	n/a
27	chr10:37936967-37937017	HNPCEpiC	eye:	n/a
28	chr10:37936967-37937017	AG09319	gingival:	n/a
29	chr10:37936967-37937017	Caco-2	colon:	n/a
30	chr10:37936967-37937017	PANC-1	pancreas:	n/a
31	chr10:37936967-37937017	IMR90	lung:	fetal
32	chr10:37936967-37937017	AG10803	skin:	n/a
33	chr10:37936967-37937017	HRPEpiC	eye:	n/a
34	chr10:37936967-37937017	SK-N-SH	brain:	n/a
35	chr10:37936967-37937017	HCPEpiC	choroid plexus:	n/a
36	chr10:37936967-37937017	MCF-7	breast:	n/a
37	chr10:37936967-37937017	NH-A	brain:	n/a
38	chr10:37936967-37937017	HCM	heart:	n/a
39	chr10:37936967-37937017	HMEC	breast:	n/a
40	chr10:37936967-37937017	SK-N-MC	brain:	n/a
41	chr10:37936967-37937017	U87	brain:	n/a
42	chr10:37936967-37937017	NHBE	bronchial:	n/a
43	chr10:37936967-37937017	HEK293	kidney:	embryo
44	chr10:37936967-37937017	HL-60	blood:	n/a
45	chr10:37936967-37937017	H1-hESC	embryonic stem cell:	embryo
46	chr10:37936967-37937017	PrEC	prostate:	n/a
47	chr10:37936967-37937017	Hepatocyte	liver:	n/a
48	chr10:37936967-37937017	HRCEpiC	kidney:	n/a
49	chr10:37936967-37937017	HEEpiC	esophagus:	n/a
50	chr10:37936967-37937017	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:37925899..37926419-chr3:14443760..14444521,2	MCF-7	breast:
2	chr1:152004903..152005861-chr10:37909534..37910318,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33A-4	chr10:37921658-37921807	XLOC_008456
2	lnc-ZNF33A-4	chr10:37910620-37910730	XLOC_008456
3	lnc-ZNF33A-4	chr10:37921658-37921816	XLOC_008456
4	lnc-ZNF33A-4	chr10:37908136-37908307	XLOC_008456
5	lnc-ZNF33A-4	chr10:37908137-37908199	XLOC_008456
6	lnc-ZNF33A-4	chr10:37921658-37921834	XLOC_008456
7	lnc-ZNF33A-4	chr10:37910291-37910435	XLOC_008456
8	lnc-ZNF33A-4	chr10:37910620-37910730	XLOC_008456
9	lnc-ZNF33A-4	chr10:37910620-37910730	XLOC_008456

Variant related genes	Relation type
MTRNR2L7	TF binding region
MTND1P18	TF binding region
MTRNR2L7	CpG island
MTND1P18	CpG island
ENSG00000131389	chromatin interactions
ZNF148	miRNA target sites
WDR33	miRNA target sites
ZNF770	miRNA target sites

Extended variants
information (count: 347 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541726916	chr10:37892937-37892938	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs149827556	chr10:37893009-37893010	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs529646980	chr10:37893022-37893023	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs139707329	chr10:37893025-37893026	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs201684879	chr10:37893028-37893029	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs373083770	chr10:37893034-37893035	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs199793832	chr10:37893044-37893045	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs369698716	chr10:37893051-37893052	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs11011278	chr10:37893060-37893061	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs12414999	chr10:37893075-37893076	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs558323894	chr10:37893076-37893077	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs11011279	chr10:37893089-37893090	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532064757	chr10:37893091-37893092	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs11011280	chr10:37893095-37893096	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs140979000	chr10:37893103-37893104	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs189896329	chr10:37893108-37893109	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs540981702	chr10:37893147-37893148	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs182743308	chr10:37893148-37893149	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs117085562	chr10:37893149-37893150	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs74137126	chr10:37905202-37905203	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376290310	chr10:37905214-37905215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111238601	chr10:37905215-37905216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs184526643	chr10:37905222-37905223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551497133	chr10:37905240-37905241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117342755	chr10:37905241-37905242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531117551	chr10:37905285-37905286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs995141	chr10:37905302-37905303	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs373748323	chr10:37905333-37905334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547175494	chr10:37905340-37905341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77506453	chr10:37905347-37905348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536162772	chr10:37905353-37905354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs75781219	chr10:37905380-37905381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556137527	chr10:37905419-37905420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575603571	chr10:37905507-37905508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs116580033	chr10:37905575-37905576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190272549	chr10:37905602-37905603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115981653	chr10:37905622-37905623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535977506	chr10:37905666-37905667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11594135	chr10:37905723-37905724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181691256	chr10:37905772-37905773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114911869	chr10:37905779-37905780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560680472	chr10:37905816-37905817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11011284	chr10:37905848-37905849	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs543318082	chr10:37905849-37905850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563032704	chr10:37905853-37905854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113110573	chr10:37905861-37905862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185003431	chr10:37905914-37905915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs551069536	chr10:37905916-37905917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs189512534	chr10:37905930-37905931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs527401369	chr10:37905957-37905958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37905200-37906000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr10:37908000-37908800	Enhancers	Rectal Smooth Muscle	rectum
3	chr10:37908600-37909000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr10:37911200-37913600	Enhancers	HepG2	liver
5	chr10:37912000-37912600	Enhancers	Stomach Mucosa	stomach
6	chr10:37913800-37914200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:37923000-37924400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:37927600-37928400	ZNF genes & repeats	Spleen	Spleen

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