Variant report

Variant	nsv975073
Chromosome Location	chr10:43079185-43083666
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	BATF	chr10:43082527-43082726	GM12878	blood:	n/a	n/a
2	BATF	chr10:43082509-43082700	GM12878	blood:	n/a	n/a
3	CEBPB	chr10:43079227-43079676	K562	blood:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
4	CEBPB	chr10:43079262-43079641	HepG2	liver:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
5	CEBPB	chr10:43079312-43079512	H1-hESC	embryonic stem cell:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
6	CEBPB	chr10:43079231-43079623	ECC-1	luminal epithelium:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
7	CEBPB	chr10:43079210-43079685	MCF-7	breast:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
8	CEBPB	chr10:43079296-43079637	A549	lung:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
9	CEBPB	chr10:43079309-43079612	HepG2	liver:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
10	CEBPB	chr10:43079151-43079617	K562	blood:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
11	CEBPB	chr10:43079282-43079669	A549	lung:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
12	CEBPB	chr10:43079280-43079629	Hela-S3	cervix:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
13	CEBPB	chr10:43079261-43079630	IMR90	lung:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
14	CEBPB	chr10:43079353-43079529	HepG2	liver:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
15	CEBPB	chr10:43079299-43079549	K562	blood:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
16	CEBPB	chr10:43079267-43079638	HepG2	liver:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
17	CEBPB	chr10:43079242-43079615	ECC-1	luminal epithelium:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
18	CEBPB	chr10:43079259-43079666	A549	lung:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
19	CEBPB	chr10:43079222-43079678	MCF-7	breast:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
20	CEBPD	chr10:43079203-43079715	K562	blood:	n/a	chr10:43079445-43079454
21	CEBPD	chr10:43079328-43079634	K562	blood:	n/a	chr10:43079445-43079454
22	CTCF	chr10:43079182-43079308	K562	blood:	n/a	n/a
23	CTCF	chr10:43079131-43079521	K562	blood:	n/a	n/a
24	EBF1	chr10:43082533-43082565	GM12878	blood:	n/a	n/a
25	JUN	chr10:43079241-43079308	K562	blood:	n/a	n/a
26	MAZ	chr10:43079357-43079431	K562	blood:	n/a	n/a
27	NRF1	chr10:43079339-43079485	K562	blood:	n/a	n/a
28	POLR2A	chr10:43083586-43083831	MCF-7	breast:	n/a	n/a
29	POLR2A	chr10:43083377-43083387	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr10:43079504-43079553	Gliobla	brain:	n/a	n/a
31	POLR2A	chr10:43081962-43082254	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr10:43080742-43080846	HepG2	liver:	n/a	n/a
33	POLR2A	chr10:43079409-43079429	K562	blood:	n/a	n/a
34	POLR2A	chr10:43082022-43082236	HepG2	liver:	n/a	n/a
35	POLR2A	chr10:43079437-43079546	K562	blood:	n/a	n/a
36	POLR2A	chr10:43080512-43080553	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr10:43079735-43079749	MCF-7	breast:	n/a	n/a
38	POLR2A	chr10:43080128-43080270	HepG2	liver:	n/a	n/a
39	POLR2A	chr10:43082292-43082398	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr10:43079526-43079912	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr10:43082337-43082459	MCF-7	breast:	n/a	n/a
42	POLR2A	chr10:43082948-43083017	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr10:43082754-43082803	HepG2	liver:	n/a	n/a
44	POLR2A	chr10:43083241-43083403	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr10:43079457-43079473	Gliobla	brain:	n/a	n/a
46	POLR2A	chr10:43082140-43082267	MCF-7	breast:	n/a	n/a
47	POLR2A	chr10:43079794-43079796	MCF-7	breast:	n/a	n/a
48	POLR2A	chr10:43079852-43079945	Gliobla	brain:	n/a	n/a
49	POLR2A	chr10:43079776-43079788	MCF-7	breast:	n/a	n/a
50	TBL1XR1	chr10:43079582-43079654	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000271831	TF binding region

Extended variants
information (count: 217 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560362614	chr10:43079185-43079186	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113412012	chr10:43079204-43079205	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545979924	chr10:43079213-43079214	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs564352484	chr10:43079263-43079264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376192759	chr10:43079277-43079278	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550080390	chr10:43079282-43079283	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73264781	chr10:43079290-43079291	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs210285	chr10:43079348-43079349	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs376607203	chr10:43079412-43079413	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548194191	chr10:43079432-43079433	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141314864	chr10:43079458-43079459	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533927394	chr10:43079463-43079464	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115824931	chr10:43079464-43079465	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184292777	chr10:43079497-43079498	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188183186	chr10:43079516-43079517	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76859311	chr10:43079529-43079530	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574705012	chr10:43079564-43079565	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535479334	chr10:43079669-43079670	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554180579	chr10:43079678-43079679	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563392917	chr10:43079709-43079710	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376998301	chr10:43079715-43079716	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559746896	chr10:43079733-43079734	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572411181	chr10:43079769-43079770	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545899500	chr10:43079793-43079794	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12412177	chr10:43079794-43079795	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115938727	chr10:43079879-43079880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543094694	chr10:43079892-43079893	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376096700	chr10:43079917-43079918	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374827317	chr10:43079935-43079936	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562220602	chr10:43079940-43079941	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532196466	chr10:43079954-43079955	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573346065	chr10:43079974-43079975	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200015044	chr10:43079986-43079987	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529638966	chr10:43079999-43080000	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541450397	chr10:43080020-43080021	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185656730	chr10:43080038-43080039	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188896898	chr10:43080046-43080047	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552317395	chr10:43080094-43080095	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs377248937	chr10:43080108-43080109	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182116048	chr10:43080120-43080121	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531513243	chr10:43080145-43080146	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373396939	chr10:43080160-43080161	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186858606	chr10:43080184-43080185	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs548164408	chr10:43080206-43080207	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146066997	chr10:43080207-43080208	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs140039280	chr10:43080213-43080214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs566090619	chr10:43080232-43080233	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192154006	chr10:43080248-43080249	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs143574872	chr10:43080250-43080251	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576155819	chr10:43080325-43080326	Weak transcription Strong transcription ZNF genes & repeats	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
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43076000-43088400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:43076200-43079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:43076400-43083000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:43076600-43080400	Weak transcription	Right Ventricle	heart
5	chr10:43076600-43083400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:43076800-43082400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:43076800-43083000	Weak transcription	Thymus	Thymus
8	chr10:43076800-43087000	Weak transcription	Fetal Heart	heart
9	chr10:43077000-43080400	Weak transcription	Fetal Lung	lung
10	chr10:43077000-43083000	Weak transcription	Left Ventricle	heart
11	chr10:43077000-43083000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:43077400-43081400	Weak transcription	Primary B cells from cord blood	blood
13	chr10:43077600-43081400	ZNF genes & repeats	Fetal Brain Female	brain
14	chr10:43077600-43088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:43077800-43079800	ZNF genes & repeats	Ovary	ovary
16	chr10:43077800-43083000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:43077800-43109600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:43078000-43079600	ZNF genes & repeats	Lung	lung
19	chr10:43078200-43079600	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr10:43078200-43080600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:43078400-43079600	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr10:43078400-43080000	ZNF genes & repeats	Spleen	Spleen
23	chr10:43078600-43079400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:43078600-43079800	ZNF genes & repeats	Liver	Liver
25	chr10:43078600-43081000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr10:43079000-43079400	Weak transcription	Pancreas	Pancrea
27	chr10:43079200-43080800	ZNF genes & repeats	Esophagus	oesophagus
28	chr10:43079200-43082400	Weak transcription	Placenta	Placenta
29	chr10:43079400-43079800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:43079400-43080600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:43079400-43080800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:43079400-43080800	ZNF genes & repeats	Pancreas	Pancrea
33	chr10:43079600-43082000	Weak transcription	Primary T cells from cord blood	blood
34	chr10:43079600-43083000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:43079600-43083000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:43079800-43082000	Weak transcription	Ovary	ovary
37	chr10:43079800-43082800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:43080000-43082200	Weak transcription	Brain Germinal Matrix	brain
39	chr10:43080000-43082400	Weak transcription	Gastric	stomach
40	chr10:43080000-43082600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr10:43080000-43082600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr10:43080000-43083000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:43080000-43083200	Weak transcription	NHEK	skin
44	chr10:43080000-43083400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:43080200-43083000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:43080200-43083000	Weak transcription	Fetal Thymus	thymus
47	chr10:43080400-43080800	Strong transcription	Right Ventricle	heart
48	chr10:43080400-43081200	Strong transcription	Fetal Lung	lung
49	chr10:43080400-43082400	Weak transcription	Fetal Stomach	stomach
50	chr10:43080600-43082800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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