Variant report

Variant	nsv1051325
Chromosome Location	chr10:43988273-44022473
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	CBX3	chr10:44019857-44020291	K562	blood:	n/a	n/a
2	CBX3	chr10:44019895-44020402	K562	blood:	n/a	n/a
3	CEBPB	chr10:44004221-44004260	HepG2	liver:	n/a	chr10:44004244-44004255
4	CEBPB	chr10:43996417-43996544	HepG2	liver:	n/a	n/a
5	CTCF	chr10:44002500-44002650	MCF-7	breast:	n/a	chr10:44002583-44002596
6	CTCF	chr10:44013840-44013990	Caco-2	colon:	n/a	n/a
7	CTCF	chr10:43992660-43992810	Caco-2	colon:	n/a	n/a
8	EP300	chr10:43996184-43996624	T-47D	breast:	n/a	n/a
9	ETS1	chr10:44019833-44020295	A549	lung:	n/a	n/a
10	ETS1	chr10:44019880-44020118	GM12878	blood:	n/a	n/a
11	ETS1	chr10:44019743-44020283	K562	blood:	n/a	n/a
12	FOXA1	chr10:43996204-43996773	T-47D	breast:	n/a	n/a
13	FOXA1	chr10:43996244-43996602	T-47D	breast:	n/a	n/a
14	FOXA2	chr10:43993253-43993589	A549	lung:	n/a	n/a
15	FOXA2	chr10:43996357-43996560	HepG2	liver:	n/a	n/a
16	GATA3	chr10:44019902-44020200	T-47D	breast:	n/a	n/a
17	GATA3	chr10:44019571-44020593	A549	lung:	n/a	n/a
18	GATA3	chr10:43996141-43996787	T-47D	breast:	n/a	n/a
19	GATA3	chr10:44019788-44020076	T-47D	breast:	n/a	n/a
20	GATA3	chr10:43996193-43996615	T-47D	breast:	n/a	n/a
21	IRF1	chr10:44019971-44020155	K562	blood:	n/a	n/a
22	JUN	chr10:44020530-44020663	K562	blood:	n/a	n/a
23	KAP1	chr10:44019080-44021368	K562	blood:	n/a	n/a
24	KAP1	chr10:44019571-44020595	HEK293	kidney:	n/a	n/a
25	KAP1	chr10:44019698-44020376	U2OS	brain:	n/a	n/a
26	MAFF	chr10:44022266-44022424	K562	blood:	n/a	chr10:44022340-44022358
27	MAFF	chr10:44022301-44022442	HepG2	liver:	n/a	chr10:44022340-44022358
28	MAFK	chr10:44022312-44022380	IMR90	lung:	n/a	chr10:44022338-44022354 chr10:44022341-44022356 chr10:44022336-44022356
29	MAFK	chr10:44022266-44022495	HepG2	liver:	n/a	chr10:44022338-44022354 chr10:44022341-44022356 chr10:44022336-44022356
30	MAFK	chr10:44021243-44021341	HepG2	liver:	n/a	n/a
31	MAFK	chr10:44022224-44022466	HepG2	liver:	n/a	chr10:44022338-44022354 chr10:44022341-44022356 chr10:44022336-44022356
32	MYC	chr10:44019473-44019554	H1-hESC	embryonic stem cell:	n/a	n/a
33	NFYA	chr10:44016547-44016669	GM12878	blood:	n/a	n/a
34	POLR2A	chr10:43994984-43995170	MCF-7	breast:	n/a	n/a
35	POLR2A	chr10:44021447-44021501	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:44016967-44017167	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr10:44000532-44000579	MCF-7	breast:	n/a	n/a
38	POLR2A	chr10:44016232-44016298	ProgFib	skin:	n/a	n/a
39	POLR2A	chr10:44011739-44011832	GM12878	blood:	n/a	n/a
40	RFX5	chr10:44018573-44018583	K562	blood:	n/a	n/a
41	SETDB1	chr10:44018233-44021472	K562	blood:	n/a	n/a
42	SETDB1	chr10:44019436-44021129	U2OS	brain:	n/a	n/a
43	SPI1	chr10:44021564-44021734	K562	blood:	n/a	n/a
44	SPI1	chr10:44007636-44007842	K562	blood:	n/a	n/a
45	TCF12	chr10:44019545-44020540	A549	lung:	n/a	n/a
46	TRIM28	chr10:44019769-44020383	K562	blood:	n/a	n/a
47	TRIM28	chr10:44019861-44020274	K562	blood:	n/a	n/a
48	USF1	chr10:44006187-44006294	GM12878	blood:	n/a	n/a
49	USF2	chr10:43989914-43989929	HepG2	liver:	n/a	n/a
50	ZNF143	chr10:44019810-44020304	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:44015456..44018280-chr10:44141593..44143815,2	K562	blood:
2	chr10:44019079..44021063-chr10:44042757..44045466,2	K562	blood:
3	chr10:43982430..43985170-chr10:43989112..43991978,2	K562	blood:
4	chr10:44012452..44015448-chr10:44015913..44019917,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF487P-5	chr10:44018704-44020665	NONHSAT012972

Variant related genes	Relation type
ENSG00000236114	TF binding region
ENSG00000236114	chromatin interactions
ENSG00000169740	chromatin interactions

Extended variants
information (count: 1100 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3122227	chr10:43988273-43988274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371548037	chr10:43988285-43988286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76380296	chr10:43988301-43988302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575650514	chr10:43988343-43988344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542767156	chr10:43988346-43988347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561322889	chr10:43988365-43988366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564696508	chr10:43988367-43988368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189922931	chr10:43988383-43988384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182588188	chr10:43988405-43988406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187292298	chr10:43988466-43988467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532870781	chr10:43988507-43988508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576511288	chr10:43988553-43988554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546667392	chr10:43988604-43988605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562943979	chr10:43988614-43988615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530621597	chr10:43988619-43988620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2999222	chr10:43988635-43988636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535770306	chr10:43988641-43988642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567233388	chr10:43988651-43988652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369602884	chr10:43988681-43988682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369557986	chr10:43988694-43988695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371351114	chr10:43988696-43988697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192116635	chr10:43988699-43988700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546207120	chr10:43988717-43988718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3124211	chr10:43988718-43988719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112042915	chr10:43988769-43988770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557080463	chr10:43988777-43988778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568995337	chr10:43988862-43988863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529573266	chr10:43988908-43988909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60023398	chr10:43988932-43988933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377281533	chr10:43988936-43988937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554792060	chr10:43988966-43988967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75664803	chr10:43988980-43988981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375334631	chr10:43989000-43989001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559012893	chr10:43989015-43989016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376379640	chr10:43989103-43989104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80177217	chr10:43989135-43989136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76756223	chr10:43989137-43989138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202214375	chr10:43989142-43989143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567899243	chr10:43989143-43989144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556137057	chr10:43989156-43989157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4948729	chr10:43989157-43989158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199781963	chr10:43989158-43989159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375538352	chr10:43989159-43989160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61078187	chr10:43989161-43989162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377175855	chr10:43989163-43989164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59343193	chr10:43989165-43989166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58449984	chr10:43989167-43989168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183192484	chr10:43989212-43989213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188670677	chr10:43989251-43989252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563095659	chr10:43989300-43989301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43987400-44003200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:43989800-43993000	Weak transcription	Brain Substantia Nigra	brain
3	chr10:43994600-44002200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:43995200-43997600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:43996200-43996600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr10:43996400-43996800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:43996400-44002400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:43998000-44005000	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:43999400-43999600	ZNF genes & repeats	Brain Angular Gyrus	brain
10	chr10:43999600-44000000	Weak transcription	Brain Angular Gyrus	brain
11	chr10:44000400-44002800	Weak transcription	Ovary	ovary
12	chr10:44002000-44002400	Enhancers	Fetal Heart	heart
13	chr10:44002200-44003000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr10:44002400-44002800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
15	chr10:44002800-44003200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:44012800-44021800	ZNF genes & repeats	Liver	Liver
17	chr10:44013000-44022600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:44016200-44021600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr10:44018400-44020800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr10:44019000-44019400	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr10:44019200-44020400	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr10:44019400-44020800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
23	chr10:44019400-44021400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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