Variant report

Variant	nsv947881
Chromosome Location	chr10:42921008-42963897
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	chr10:42926615-42926811	HepG2	liver:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
2	CEBPB	chr10:42926578-42926926	A549	lung:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
3	CEBPB	chr10:42926636-42926923	MCF-7	breast:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
4	CEBPB	chr10:42926561-42926923	ECC-1	luminal epithelium:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
5	CEBPB	chr10:42926607-42926907	Hela-S3	cervix:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
6	CEBPB	chr10:42926575-42926908	IMR90	lung:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
7	CEBPB	chr10:42926634-42926893	A549	lung:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
8	CEBPB	chr10:42926578-42926940	MCF-7	breast:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
9	CEBPB	chr10:42926569-42926928	HepG2	liver:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
10	CEBPB	chr10:42926541-42926950	ECC-1	luminal epithelium:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
11	CEBPB	chr10:42926626-42926861	HepG2	liver:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
12	CEBPB	chr10:42926558-42926930	K562	blood:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
13	CEBPB	chr10:42940373-42940490	IMR90	lung:	n/a	chr10:42940438-42940451 chr10:42940432-42940441 chr10:42940430-42940443 chr10:42940432-42940441 chr10:42940440-42940451 chr10:42940432-42940441 chr10:42940430-42940443 chr10:42940440-42940451 chr10:42940430-42940441 chr10:42940432-42940443 chr10:42940432-42940441
14	CEBPB	chr10:42926554-42927004	A549	lung:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
15	CEBPB	chr10:42926600-42926883	H1-hESC	embryonic stem cell:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
16	CEBPB	chr10:42926584-42926914	K562	blood:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
17	CEBPB	chr10:42940399-42940458	K562	blood:	n/a	chr10:42940438-42940451 chr10:42940432-42940441 chr10:42940430-42940443 chr10:42940432-42940441 chr10:42940440-42940451 chr10:42940432-42940441 chr10:42940430-42940443 chr10:42940440-42940451 chr10:42940430-42940441 chr10:42940432-42940443 chr10:42940432-42940441
18	CEBPB	chr10:42940311-42940534	HepG2	liver:	n/a	chr10:42940438-42940451 chr10:42940432-42940441 chr10:42940430-42940443 chr10:42940432-42940441 chr10:42940440-42940451 chr10:42940432-42940441 chr10:42940430-42940443 chr10:42940440-42940451 chr10:42940430-42940441 chr10:42940432-42940443 chr10:42940432-42940441
19	CTCF	chr10:42924120-42924270	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr10:42924087-42924281	HepG2	liver:	n/a	n/a
21	CTCF	chr10:42924020-42924170	HMEC	breast:	n/a	n/a
22	CTCF	chr10:42924120-42924270	AG04449	skin:	n/a	n/a
23	CTCF	chr10:42924120-42924270	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr10:42924120-42924270	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr10:42924080-42924230	GM12872	blood:	n/a	n/a
26	CTCF	chr10:42924000-42924259	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr10:42924080-42924230	GM12870	blood:	n/a	n/a
28	CTCF	chr10:42924080-42924230	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:42924080-42924230	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr10:42924060-42924210	HCM	heart:	n/a	n/a
31	CTCF	chr10:42924100-42924250	AG09309	skin:	n/a	n/a
32	CTCF	chr10:42925201-42925243	GM13977	blood:	n/a	n/a
33	CTCF	chr10:42924100-42924250	BE2_C	brain:	n/a	n/a
34	CTCF	chr10:42924060-42924210	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr10:42924021-42924333	K562	blood:	n/a	n/a
36	CTCF	chr10:42924100-42924250	GM06990	blood:	n/a	n/a
37	CTCF	chr10:42924100-42924250	GM12868	blood:	n/a	n/a
38	CTCF	chr10:42924080-42924230	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr10:42924080-42924230	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr10:42923883-42924401	A549	lung:	n/a	n/a
41	CTCF	chr10:42924100-42924250	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr10:42924120-42924270	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr10:42924120-42924270	BJ	skin:	n/a	n/a
44	CTCF	chr10:42924100-42924250	AG09319	gingival:	n/a	n/a
45	CTCF	chr10:42924120-42924270	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr10:42924040-42924190	GM12865	blood:	n/a	n/a
47	CTCF	chr10:42924200-42924350	NHLF	lung:	n/a	n/a
48	CTCF	chr10:42924100-42924250	BJ	skin:	n/a	n/a
49	CTCF	chr10:42924080-42924230	HPF	lung:	n/a	n/a
50	CTCF	chr10:42924120-42924270	HCPEpiC	choroid plexus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42931123-42931173	SAEC	small airway:	n/a
2	chr10:42931123-42931173	GM12878	blood:	n/a
3	chr10:42931123-42931173	HRCEpiC	kidney:	n/a
4	chr10:42931123-42931173	GM19239	blood:	n/a
5	chr10:42931123-42931173	NB4	blood:	n/a
6	chr10:42931123-42931173	HL-60	blood:	n/a
7	chr10:42931123-42931173	NHDF-neo	bronchial:	n/a
8	chr10:42931123-42931173	ovcar-3	ovarian:	n/a
9	chr10:42931123-42931173	SKMC	muscle:	n/a
10	chr10:42931123-42931173	H1-hESC	embryonic stem cell:	embryo
11	chr10:42931123-42931173	HepG2	liver:	n/a
12	chr10:42931123-42931173	GM12892	blood:	n/a
13	chr10:42931123-42931173	HCF	heart:	n/a
14	chr10:42931123-42931173	HIPEpiC	eye:	n/a
15	chr10:42931123-42931173	AoSMC	blood vessel:	n/a
16	chr10:42931123-42931173	U87	brain:	n/a
17	chr10:42931123-42931173	HRE	kidney:	n/a
18	chr10:42931123-42931173	SK-N-MC	brain:	n/a
19	chr10:42931123-42931173	A549	lung:	n/a
20	chr10:42931123-42931173	ProgFib	skin:	n/a
21	chr10:42931123-42931173	BE2_C	brain:	n/a
22	chr10:42931123-42931173	HMEC	breast:	n/a
23	chr10:42931123-42931173	PrEC	prostate:	n/a
24	chr10:42931123-42931173	SK-N-SH_RA	brain:	n/a
25	chr10:42931123-42931173	PANC-1	pancreas:	n/a
26	chr10:42931123-42931173	CMK	blood:	n/a
27	chr10:42931123-42931173	ECC-1	luminal epithelium:	n/a
28	chr10:42931123-42931173	HEEpiC	esophagus:	n/a
29	chr10:42931123-42931173	AG04449	skin:	fetal
30	chr10:42931123-42931173	NHBE	bronchial:	n/a
31	chr10:42931123-42931173	HPAEpiC	pulmonary alveolar:	n/a
32	chr10:42931123-42931173	Hela-S3	cervix:	n/a
33	chr10:42931123-42931173	HAEpiC	amniotic membrane:	n/a
34	chr10:42931123-42931173	HCPEpiC	choroid plexus:	n/a
35	chr10:42931123-42931173	HUVEC	blood vessel:	n/a
36	chr10:42931123-42931173	GM12891	blood:	n/a
37	chr10:42931123-42931173	NH-A	brain:	n/a
38	chr10:42931123-42931173	BJ	skin:	n/a
39	chr10:42931123-42931173	AG04450	lung:	fetal
40	chr10:42931123-42931173	Hepatocyte	liver:	n/a
41	chr10:42931123-42931173	T-47D	breast:	n/a
42	chr10:42931123-42931173	HCT-116	colon:	n/a
43	chr10:42931123-42931173	LNCaP	prostate:	n/a
44	chr10:42931123-42931173	HEK293	kidney:	embryo
45	chr10:42931123-42931173	MCF-7	breast:	n/a
46	chr10:42931123-42931173	AG09309	skin:	n/a
47	chr10:42931123-42931173	PFSK-1	brain:	n/a
48	chr10:42931123-42931173	Caco-2	colon:	n/a
49	chr10:42931123-42931173	IMR90	lung:	fetal
50	chr10:42931123-42931173	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:42939273..42941878-chr10:42945639..42947236,2	K562	blood:
2	chr10:42939273..42941878-chr10:42945639..42947236,2	K562	blood:

Variant related genes	Relation type
CCNYL2	TF binding region
CCNYL2	CpG island

Extended variants
information (count: 136 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556281398	chr10:42939209-42939210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372196718	chr10:42939210-42939211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs202065748	chr10:42939241-42939242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200389372	chr10:42939246-42939247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs185130942	chr10:42939282-42939283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567725237	chr10:42939316-42939317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530491005	chr10:42939322-42939323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs550228828	chr10:42939328-42939329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570305019	chr10:42939364-42939365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs386743112	chr10:42939368-42939369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113909182	chr10:42939369-42939370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs35350909	chr10:42939405-42939406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs182459274	chr10:42939441-42939442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35548310	chr10:42939446-42939447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs74135581	chr10:42939454-42939455	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553744730	chr10:42939465-42939466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2154316	chr10:42939466-42939467	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs35981740	chr10:42939469-42939470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs545691318	chr10:42939543-42939544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188408991	chr10:42939551-42939552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543778596	chr10:42939588-42939589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564745925	chr10:42939616-42939617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373142144	chr10:42939617-42939618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs117267867	chr10:42939635-42939636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112187522	chr10:42939649-42939650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140471986	chr10:42939714-42939715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs191552193	chr10:42939739-42939740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528229433	chr10:42939795-42939796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73250242	chr10:42939809-42939810	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75125072	chr10:42939815-42939816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200578360	chr10:42939819-42939820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs74135582	chr10:42939845-42939846	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113109158	chr10:42939846-42939847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369483640	chr10:42939853-42939854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201695760	chr10:42939858-42939859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112985201	chr10:42939891-42939892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs1937997	chr10:42939904-42939905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183857529	chr10:42939911-42939912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs2801015	chr10:42939944-42939945	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556006381	chr10:42939954-42939955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs143741459	chr10:42939955-42939956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs566293477	chr10:42939962-42939963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376406653	chr10:42939969-42939970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569641985	chr10:42939977-42939978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532859985	chr10:42948200-42948201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183219247	chr10:42948216-42948217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559912595	chr10:42948232-42948233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528649593	chr10:42948301-42948302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548694320	chr10:42948323-42948324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528411064	chr10:42948373-42948374	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21509527	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
Obesity	20622171	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
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	20877625	CNVD
Hirschsprung''s Disease	19925665	CNVD
Hirschsprung''s Disease	20456320	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42939200-42940000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:42948200-42948800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:42949600-42949800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:42949600-42950200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:42961800-42962000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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