Variant report

Variant	nsv948329
Chromosome Location	chr10:43077967-43079685
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	chr10:43079282-43079669	A549	lung:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
2	CEBPB	chr10:43079267-43079638	HepG2	liver:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
3	CEBPB	chr10:43079261-43079630	IMR90	lung:	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	chr10:43079151-43079617	K562	blood:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
6	CEBPB	chr10:43079210-43079685	MCF-7	breast:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
7	CEBPB	chr10:43079259-43079666	A549	lung:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
8	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
9	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
10	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
11	CEBPB	chr10:43079280-43079629	Hela-S3	cervix:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
12	CEBPB	chr10:43079222-43079678	MCF-7	breast:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
13	CEBPB	chr10:43079296-43079637	A549	lung:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
14	CEBPB	chr10:43079299-43079549	K562	blood:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
15	CEBPB	chr10:43079353-43079529	HepG2	liver:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
16	CEBPB	chr10:43079227-43079676	K562	blood:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
17	CEBPB	chr10:43079309-43079612	HepG2	liver:	n/a	chr10:43079445-43079454 chr10:43079444-43079455 chr10:43079445-43079454 chr10:43079445-43079454 chr10:43079445-43079454
18	CEBPD	chr10:43079203-43079715	K562	blood:	n/a	chr10:43079445-43079454
19	CEBPD	chr10:43079328-43079634	K562	blood:	n/a	chr10:43079445-43079454
20	CTCF	chr10:43079131-43079521	K562	blood:	n/a	n/a
21	CTCF	chr10:43079182-43079308	K562	blood:	n/a	n/a
22	CTCF	chr10:43078201-43078271	Lung_OC	lung:	n/a	n/a
23	CTCF	chr10:43079162-43079169	GM12878	blood:	n/a	n/a
24	JUN	chr10:43079241-43079308	K562	blood:	n/a	n/a
25	MAZ	chr10:43079357-43079431	K562	blood:	n/a	n/a
26	NRF1	chr10:43079339-43079485	K562	blood:	n/a	n/a
27	POLR2A	chr10:43079409-43079429	K562	blood:	n/a	n/a
28	POLR2A	chr10:43079457-43079473	Gliobla	brain:	n/a	n/a
29	POLR2A	chr10:43078025-43078078	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr10:43079504-43079553	Gliobla	brain:	n/a	n/a
31	POLR2A	chr10:43079437-43079546	K562	blood:	n/a	n/a
32	POLR2A	chr10:43079526-43079912	Hela-S3	cervix:	n/a	n/a
33	TBL1XR1	chr10:43079582-43079654	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33B-3	chr10:43078139-43078571	ENSG00000272373.1

Variant related genes	Relation type
ENSG00000271831	TF binding region
ENSG00000272387	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112908955	chr10:43077970-43077971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2272865	chr10:43077974-43077975	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551113549	chr10:43077999-43078000	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569437342	chr10:43078001-43078002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs17157513	chr10:43078003-43078004	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187650502	chr10:43078008-43078009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191644657	chr10:43078025-43078026	Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs184196683	chr10:43078028-43078029	Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs34047991	chr10:43078048-43078049	Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs534264257	chr10:43078058-43078059	Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs552887611	chr10:43078065-43078066	Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs143761756	chr10:43078100-43078101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538312472	chr10:43078112-43078113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556623093	chr10:43078130-43078131	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187515251	chr10:43078141-43078142	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs151117301	chr10:43078172-43078173	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs373966297	chr10:43078187-43078188	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs573050605	chr10:43078194-43078195	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs199597704	chr10:43078204-43078205	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs536779143	chr10:43078227-43078228	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs41301637	chr10:43078228-43078229	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs150091263	chr10:43078259-43078260	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs544650930	chr10:43078260-43078261	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs11239687	chr10:43078282-43078283	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17157518	chr10:43078323-43078324	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs17157520	chr10:43078341-43078342	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192321255	chr10:43078352-43078353	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs527959448	chr10:43078360-43078361	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368620257	chr10:43078361-43078362	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs146966876	chr10:43078377-43078378	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs570844294	chr10:43078400-43078401	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs538228428	chr10:43078420-43078421	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs371187041	chr10:43078438-43078439	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs568604004	chr10:43078439-43078440	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs185504002	chr10:43078451-43078452	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs558688087	chr10:43078468-43078469	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs11239688	chr10:43078469-43078470	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540483661	chr10:43078490-43078491	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs41301639	chr10:43078525-43078526	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577238590	chr10:43078578-43078579	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544614124	chr10:43078588-43078589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577227834	chr10:43078615-43078616	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562910230	chr10:43078629-43078630	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs574944967	chr10:43078638-43078639	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs541358433	chr10:43078641-43078642	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541981451	chr10:43078643-43078644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560704262	chr10:43078759-43078760	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs527866816	chr10:43078764-43078765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs140995912	chr10:43078767-43078768	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552765703	chr10:43078791-43078792	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:44 , 50 per page) page: 1

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	chr10:43076400-43078200	Weak transcription	Pancreas	Pancrea
4	chr10:43076400-43079000	Weak transcription	Fetal Intestine Large	intestine
5	chr10:43076400-43083000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:43076600-43078200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:43076600-43080400	Weak transcription	Right Ventricle	heart
8	chr10:43076600-43083400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:43076800-43082400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:43076800-43083000	Weak transcription	Thymus	Thymus
11	chr10:43076800-43087000	Weak transcription	Fetal Heart	heart
12	chr10:43077000-43080400	Weak transcription	Fetal Lung	lung
13	chr10:43077000-43083000	Weak transcription	Left Ventricle	heart
14	chr10:43077000-43083000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:43077400-43081400	Weak transcription	Primary B cells from cord blood	blood
16	chr10:43077600-43081400	ZNF genes & repeats	Fetal Brain Female	brain
17	chr10:43077600-43088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:43077800-43078000	ZNF genes & repeats	Liver	Liver
19	chr10:43077800-43078800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr10:43077800-43078800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr10:43077800-43079800	ZNF genes & repeats	Ovary	ovary
22	chr10:43077800-43083000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:43077800-43109600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:43078000-43078800	ZNF genes & repeats	Fetal Stomach	stomach
25	chr10:43078000-43079600	ZNF genes & repeats	Lung	lung
26	chr10:43078200-43079000	Strong transcription	Pancreas	Pancrea
27	chr10:43078200-43079600	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr10:43078200-43080600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:43078400-43079600	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr10:43078400-43080000	ZNF genes & repeats	Spleen	Spleen
31	chr10:43078600-43078800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:43078600-43079400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:43078600-43079800	ZNF genes & repeats	Liver	Liver
34	chr10:43078600-43081000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr10:43079000-43079400	Weak transcription	Pancreas	Pancrea
36	chr10:43079200-43080800	ZNF genes & repeats	Esophagus	oesophagus
37	chr10:43079200-43082400	Weak transcription	Placenta	Placenta
38	chr10:43079400-43079800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:43079400-43080600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:43079400-43080800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:43079400-43080800	ZNF genes & repeats	Pancreas	Pancrea
42	chr10:43079600-43082000	Weak transcription	Primary T cells from cord blood	blood
43	chr10:43079600-43083000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:43079600-43083000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links