Variant report

Variant	esv3444858
Chromosome Location	chr10:43836470-43837485
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	E2F6	chr10:43835602-43836489	A549	lung:	n/a	n/a
2	E2F6	chr10:43835549-43836660	A549	lung:	n/a	n/a
3	EP300	chr10:43835923-43836595	A549	lung:	n/a	n/a
4	FOS	chr10:43836059-43836535	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr10:43836065-43836483	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr10:43836055-43836576	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr10:43836071-43836567	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL2	chr10:43835571-43836641	A549	lung:	n/a	n/a
9	FOSL2	chr10:43836041-43836556	MCF-7	breast:	n/a	n/a
10	FOXA2	chr10:43835856-43836486	A549	lung:	n/a	n/a
11	JUN	chr10:43836433-43836562	HepG2	liver:	n/a	chr10:43836539-43836552
12	JUND	chr10:43837294-43837494	HepG2	liver:	n/a	chr10:43837428-43837437
13	JUND	chr10:43836063-43836502	A549	lung:	n/a	n/a
14	JUND	chr10:43836248-43836670	HepG2	liver:	n/a	n/a
15	MAX	chr10:43835676-43836605	HCT-116	colon:	n/a	n/a
16	MAX	chr10:43835522-43836708	A549	lung:	n/a	n/a
17	MAX	chr10:43835640-43836545	A549	lung:	n/a	n/a
18	MYC	chr10:43836100-43836479	MCF10A-Er-Src	breast:	n/a	n/a
19	NR3C1	chr10:43836002-43836478	A549	lung:	n/a	n/a
20	NR3C1	chr10:43835983-43836641	A549	lung:	n/a	n/a
21	NR3C1	chr10:43835994-43836562	A549	lung:	n/a	n/a
22	POLR2A	chr10:43835873-43836473	HCT-116	colon:	n/a	n/a
23	POLR2A	chr10:43836033-43836475	HCT-116	colon:	n/a	n/a
24	SP1	chr10:43835906-43836577	A549	lung:	n/a	n/a
25	STAT3	chr10:43836054-43836526	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr10:43835858-43836575	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr10:43836046-43836560	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr10:43836072-43836527	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF12	chr10:43835741-43836703	A549	lung:	n/a	n/a
30	ZNF263	chr10:43835821-43836546	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
RNU6ATAC11P	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560056540	chr10:43836474-43836475	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs140359950	chr10:43836499-43836500	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs182883450	chr10:43836521-43836522	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552596857	chr10:43836541-43836542	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs142417751	chr10:43836566-43836567	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570995499	chr10:43836571-43836572	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113230983	chr10:43836596-43836597	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111764728	chr10:43836599-43836600	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187518019	chr10:43836616-43836617	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145694225	chr10:43836640-43836641	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs140630281	chr10:43836667-43836668	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs529052383	chr10:43836670-43836671	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs116861464	chr10:43836731-43836732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192143023	chr10:43836732-43836733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184590295	chr10:43836736-43836737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372200473	chr10:43836761-43836762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558596822	chr10:43836773-43836774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576759527	chr10:43836774-43836775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543979057	chr10:43836781-43836782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562386771	chr10:43836782-43836783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530122931	chr10:43836783-43836784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541928834	chr10:43836794-43836795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189106286	chr10:43836845-43836846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145680208	chr10:43836852-43836853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552800443	chr10:43836861-43836862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532092946	chr10:43836872-43836873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550389200	chr10:43836876-43836877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568680995	chr10:43836877-43836878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536309178	chr10:43836879-43836880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192250383	chr10:43836908-43836909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554390242	chr10:43836909-43836910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568201433	chr10:43836915-43836916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537137864	chr10:43836932-43836933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566430760	chr10:43836939-43836940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537163435	chr10:43836940-43836941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558548988	chr10:43836943-43836944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113753311	chr10:43836956-43836957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544139592	chr10:43836957-43836958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2252458	chr10:43836962-43836963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143322248	chr10:43836969-43836970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542281618	chr10:43836980-43836981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567188517	chr10:43836993-43836994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560397413	chr10:43837004-43837005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57488853	chr10:43837040-43837041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148378259	chr10:43837044-43837045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564514153	chr10:43837148-43837149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532002756	chr10:43837149-43837150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570828130	chr10:43837175-43837176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375148944	chr10:43837250-43837251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116299128	chr10:43837327-43837328	Weak transcription Enhancers	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
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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43828800-43839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:43828800-43839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:43833400-43836800	Enhancers	Placenta	Placenta
4	chr10:43833600-43836600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:43833600-43836600	Enhancers	Spleen	Spleen
6	chr10:43835200-43837800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:43835600-43836600	Enhancers	Esophagus	oesophagus
8	chr10:43835600-43836800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:43835600-43836800	Enhancers	NHEK	skin
10	chr10:43835600-43837000	Enhancers	Stomach Mucosa	stomach
11	chr10:43835800-43836600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr10:43835800-43836600	Flanking Active TSS	A549	lung
13	chr10:43835800-43836600	Enhancers	Hela-S3	cervix
14	chr10:43835800-43836800	Enhancers	HMEC	breast
15	chr10:43835800-43837000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:43835800-43837000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:43836000-43836600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:43836000-43836600	Enhancers	Gastric	stomach
19	chr10:43836200-43836600	Enhancers	Lung	lung
20	chr10:43836200-43836600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr10:43836400-43837800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:43836600-43837400	Enhancers	A549	lung
23	chr10:43836600-43838000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr10:43836600-43839400	Weak transcription	Hela-S3	cervix
25	chr10:43836600-43839800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:43836600-43846000	Weak transcription	Right Atrium	heart
27	chr10:43836800-43839400	Weak transcription	NHEK	skin
28	chr10:43836800-43839600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:43836800-43843400	Weak transcription	HMEC	breast
30	chr10:43837000-43839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:43837000-43839400	Weak transcription	Stomach Mucosa	stomach
32	chr10:43837000-43839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:43837400-43838400	Weak transcription	A549	lung

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