Variant report

Variant	nsv947857
Chromosome Location	chr10:38453951-38497640
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	chr10:38482361-38482396	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:38463363-38463679	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr10:38485269-38485437	IMR90	lung:	n/a	chr10:38485347-38485358
4	CEBPB	chr10:38485297-38485456	HepG2	liver:	n/a	chr10:38485347-38485358
5	CTCF	chr10:38494582-38494655	LNCaP	prostate:	n/a	n/a
6	CTCF	chr10:38486247-38486345	Lung_OC	lung:	n/a	n/a
7	CTCF	chr10:38484898-38484981	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr10:38488696-38488723	Fibrobl	skin:	n/a	n/a
9	CTCF	chr10:38484913-38484982	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:38494631-38494678	Fibrobl	skin:	n/a	n/a
11	CTCF	chr10:38484910-38484981	K562	blood:	n/a	n/a
12	CTCF	chr10:38476082-38476145	GM10248	blood:	n/a	n/a
13	EP300	chr10:38464762-38465185	MCF-7	breast:	n/a	n/a
14	MAFF	chr10:38491386-38491658	HepG2	liver:	n/a	chr10:38491499-38491517
15	MAFK	chr10:38491412-38491642	HepG2	liver:	n/a	chr10:38491506-38491516 chr10:38491506-38491515 chr10:38491541-38491556 chr10:38491501-38491516
16	MAFK	chr10:38474379-38474384	Hela-S3	cervix:	n/a	n/a
17	MAFK	chr10:38474372-38474489	HepG2	liver:	n/a	chr10:38474408-38474419 chr10:38474406-38474420 chr10:38474407-38474422 chr10:38474407-38474418 chr10:38474407-38474418 chr10:38474407-38474423
18	MAFK	chr10:38474350-38474474	IMR90	lung:	n/a	chr10:38474408-38474419 chr10:38474406-38474420 chr10:38474407-38474422 chr10:38474407-38474418 chr10:38474407-38474418 chr10:38474407-38474423
19	MAFK	chr10:38474306-38474497	HepG2	liver:	n/a	chr10:38474408-38474419 chr10:38474406-38474420 chr10:38474407-38474422 chr10:38474407-38474418 chr10:38474407-38474418 chr10:38474407-38474423
20	MAFK	chr10:38491381-38491687	HepG2	liver:	n/a	chr10:38491506-38491516 chr10:38491506-38491515 chr10:38491541-38491556 chr10:38491501-38491516
21	MYC	chr10:38464785-38464838	MCF-7	breast:	n/a	n/a
22	MYC	chr10:38464811-38464847	MCF-7	breast:	n/a	n/a
23	MYC	chr10:38464792-38464798	MCF-7	breast:	n/a	n/a
24	MYC	chr10:38464851-38464948	MCF-7	breast:	n/a	n/a
25	NFIC	chr10:38463356-38463579	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr10:38457332-38457478	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:38464736-38464967	MCF-7	breast:	n/a	n/a
28	POLR2A	chr10:38493084-38493180	Gliobla	brain:	n/a	n/a
29	POLR2A	chr10:38464984-38464994	MCF-7	breast:	n/a	n/a
30	POLR2A	chr10:38464776-38464960	A549	lung:	n/a	n/a
31	POLR2A	chr10:38493118-38493261	A549	lung:	n/a	n/a
32	POLR2A	chr10:38467580-38467698	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:38464754-38465053	MCF-7	breast:	n/a	n/a
34	PRDM1	chr10:38478983-38479182	Hela-S3	cervix:	n/a	n/a
35	RFX5	chr10:38456197-38456318	K562	blood:	n/a	n/a
36	SPI1	chr10:38473736-38474006	GM12891	blood:	n/a	n/a
37	STAT3	chr10:38466871-38466944	MCF10A-Er-Src	breast:	n/a	n/a
38	TCF7L2	chr10:38454842-38454892	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38463685-38463735	U87	brain:	n/a
2	chr10:38463685-38463735	Hepatocyte	liver:	n/a
3	chr10:38463685-38463735	PANC-1	pancreas:	n/a
4	chr10:38463685-38463735	K562	blood:	n/a
5	chr10:38463685-38463735	MCF-7	breast:	n/a
6	chr10:38463685-38463735	HCM	heart:	n/a
7	chr10:38463685-38463735	BE2_C	brain:	n/a
8	chr10:38463685-38463735	AG04449	skin:	fetal
9	chr10:38463685-38463735	SK-N-SH_RA	brain:	n/a
10	chr10:38463685-38463735	HAEpiC	amniotic membrane:	n/a
11	chr10:38463685-38463735	NB4	blood:	n/a
12	chr10:38463685-38463735	HEK293	kidney:	embryo
13	chr10:38463685-38463735	ProgFib	skin:	n/a
14	chr10:38463685-38463735	GM12892	blood:	n/a
15	chr10:38463685-38463735	HMEC	breast:	n/a
16	chr10:38463685-38463735	AG09319	gingival:	n/a
17	chr10:38463685-38463735	NH-A	brain:	n/a
18	chr10:38463685-38463735	HCT-116	colon:	n/a
19	chr10:38463685-38463735	HepG2	liver:	n/a
20	chr10:38463685-38463735	T-47D	breast:	n/a
21	chr10:38463685-38463735	NHBE	bronchial:	n/a
22	chr10:38463685-38463735	AG04450	lung:	fetal
23	chr10:38463685-38463735	ECC-1	luminal epithelium:	n/a
24	chr10:38463685-38463735	HRCEpiC	kidney:	n/a
25	chr10:38463685-38463735	NHDF-neo	bronchial:	n/a
26	chr10:38463685-38463735	ovcar-3	ovarian:	n/a
27	chr10:38463685-38463735	BJ	skin:	n/a
28	chr10:38463685-38463735	SK-N-MC	brain:	n/a
29	chr10:38463685-38463735	PFSK-1	brain:	n/a
30	chr10:38463685-38463735	IMR90	lung:	fetal
31	chr10:38463685-38463735	PrEC	prostate:	n/a
32	chr10:38463685-38463735	HCPEpiC	choroid plexus:	n/a
33	chr10:38463685-38463735	GM19239	blood:	n/a
34	chr10:38463685-38463735	HEEpiC	esophagus:	n/a
35	chr10:38463685-38463735	CMK	blood:	n/a
36	chr10:38463685-38463735	RPTEC	kidney:	n/a
37	chr10:38463685-38463735	LNCaP	prostate:	n/a
38	chr10:38463685-38463735	SK-N-SH	brain:	n/a
39	chr10:38463685-38463735	HRE	kidney:	n/a
40	chr10:38463685-38463735	HL-60	blood:	n/a
41	chr10:38463685-38463735	SAEC	small airway:	n/a
42	chr10:38463685-38463735	HRPEpiC	eye:	n/a
43	chr10:38463685-38463735	GM12878	blood:	n/a
44	chr10:38463685-38463735	HNPCEpiC	eye:	n/a
45	chr10:38463685-38463735	Caco-2	colon:	n/a
46	chr10:38463685-38463735	Hela-S3	cervix:	n/a
47	chr10:38463685-38463735	GM06990	blood:	n/a
48	chr10:38463685-38463735	H1-hESC	embryonic stem cell:	embryo
49	chr10:38463685-38463735	MCF10A-Er-Src	breast:	n/a
50	chr10:38463685-38463735	HIPEpiC	eye:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF37A-11	chr10:38494920-38494992	NONHSAT012814
2	lnc-ZNF37A-1	chr10:38454914-38454986	ENSG00000241125
3	lnc-ZNF37A-11	chr10:38493582-38493806	NONHSAT012814
4	lnc-ZNF37A-1	chr10:38466829-38466958	ENSG00000241125

Variant related genes	Relation type
ENSG00000224761	TF binding region
ENSG00000236309	TF binding region
ENSG00000224761	CpG island
ENSG00000236309	CpG island

Extended variants
information (count: 381 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116264382	chr10:38454040-38454041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530006488	chr10:38454042-38454043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74674987	chr10:38454061-38454062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564721194	chr10:38454117-38454118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139818631	chr10:38454124-38454125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183433932	chr10:38454189-38454190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560339930	chr10:38454259-38454260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149292258	chr10:38454301-38454302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374346725	chr10:38454324-38454325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112680788	chr10:38454337-38454338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386371228	chr10:38454338-38454339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143118364	chr10:38454341-38454342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386371229	chr10:38454348-38454349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34120660	chr10:38454349-38454350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117839709	chr10:38454366-38454367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569296805	chr10:38454454-38454455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369402515	chr10:38454460-38454461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552138181	chr10:38454461-38454462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2018739	chr10:38454496-38454497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540253167	chr10:38454537-38454538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560497185	chr10:38454547-38454548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534084586	chr10:38454548-38454549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548078410	chr10:38454555-38454556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554352222	chr10:38454567-38454568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371162296	chr10:38454571-38454572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550059064	chr10:38454572-38454573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146885542	chr10:38454582-38454583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187756918	chr10:38454614-38454615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192316732	chr10:38454616-38454617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575664509	chr10:38454630-38454631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16937704	chr10:38454699-38454700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558472228	chr10:38454703-38454704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183720675	chr10:38454717-38454718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540831464	chr10:38454811-38454812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561154296	chr10:38454830-38454831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3041929	chr10:38454833-38454834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200349875	chr10:38454834-38454835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201191504	chr10:38454835-38454836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141781697	chr10:38454841-38454842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3041930	chr10:38454867-38454868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367819242	chr10:38454892-38454893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529342574	chr10:38454901-38454902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562978002	chr10:38454916-38454917	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs2384732	chr10:38454921-38454922	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs188241938	chr10:38454925-38454926	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs372540050	chr10:38454956-38454957	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs12244294	chr10:38454979-38454980	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569936132	chr10:38455006-38455007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11011468	chr10:38455007-38455008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376366767	chr10:38455036-38455037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	21569311	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38449400-38456800	Weak transcription	Brain Substantia Nigra	brain
2	chr10:38457600-38460600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:38464600-38466000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:38464800-38465800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:38492600-38493600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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