Variant report

Variant	esv999463
Chromosome Location	chr10:50980273-50990200
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	CTCF	chr10:50981373-50981406	GM10248	blood:	n/a	n/a
2	CTCF	chr10:50980388-50980442	GM20000	blood:	n/a	n/a
3	EP300	chr10:50989273-50989503	SK-N-SH_RA	brain:	n/a	chr10:50989442-50989451 chr10:50989441-50989450 chr10:50989370-50989380
4	FOS	chr10:50989287-50989604	MCF10A-Er-Src	breast:	n/a	chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
5	FOS	chr10:50989285-50989609	MCF10A-Er-Src	breast:	n/a	chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
6	FOS	chr10:50989288-50989574	MCF10A-Er-Src	breast:	n/a	chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
7	FOS	chr10:50989305-50989614	MCF10A-Er-Src	breast:	n/a	chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
8	FOSL2	chr10:50989161-50989734	SK-N-SH	brain:	n/a	chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
9	GATA3	chr10:50989203-50989781	SK-N-SH	brain:	n/a	chr10:50989440-50989449
10	JUN	chr10:50989332-50989498	HepG2	liver:	n/a	chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
11	JUND	chr10:50988997-50989748	SK-N-SH	brain:	n/a	chr10:50989440-50989451 chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
12	JUND	chr10:50989134-50989752	SK-N-SH	brain:	n/a	chr10:50989440-50989451 chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
13	JUND	chr10:50989287-50989621	HepG2	liver:	n/a	chr10:50989440-50989451 chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
14	JUND	chr10:50989271-50989627	Hela-S3	cervix:	n/a	chr10:50989440-50989451 chr10:50989440-50989447 chr10:50989442-50989450 chr10:50989443-50989450 chr10:50989440-50989452 chr10:50989442-50989451 chr10:50989441-50989451
15	KAP1	chr10:50989354-50989801	HEK293	kidney:	n/a	chr10:50989443-50989452
16	KAP1	chr10:50989257-50989752	U2OS	brain:	n/a	chr10:50989443-50989452
17	MAFF	chr10:50989863-50990031	HepG2	liver:	n/a	n/a
18	MAFK	chr10:50989866-50989923	HepG2	liver:	n/a	n/a
19	MAFK	chr10:50989922-50989923	HepG2	liver:	n/a	n/a
20	MAFK	chr10:50990023-50990083	IMR90	lung:	n/a	n/a
21	NFYB	chr10:50989680-50990242	K562	blood:	n/a	n/a
22	NFYB	chr10:50989772-50990101	GM12878	blood:	n/a	n/a
23	NFYB	chr10:50989764-50989964	Hela-S3	cervix:	n/a	n/a
24	NRF1	chr10:50984258-50984309	K562	blood:	n/a	n/a
25	PBX3	chr10:50989186-50989802	SK-N-SH	brain:	n/a	n/a
26	PBX3	chr10:50989344-50989748	SK-N-SH	brain:	n/a	n/a
27	REST	chr10:50984057-50984459	ECC-1	luminal epithelium:	n/a	n/a
28	REST	chr10:50984910-50985148	PFSK-1	brain:	n/a	chr10:50985050-50985070 chr10:50985050-50985070 chr10:50985050-50985064
29	REST	chr10:50984885-50985159	PFSK-1	brain:	n/a	chr10:50985050-50985070 chr10:50985050-50985070 chr10:50985050-50985064
30	REST	chr10:50984837-50985274	ECC-1	luminal epithelium:	n/a	chr10:50985050-50985070 chr10:50985050-50985070 chr10:50985050-50985064
31	REST	chr10:50984875-50985171	H1-hESC	embryonic stem cell:	n/a	chr10:50985050-50985070 chr10:50985050-50985070 chr10:50985050-50985064
32	REST	chr10:50984124-50984384	H1-hESC	embryonic stem cell:	n/a	n/a
33	REST	chr10:50984968-50985170	Hela-S3	cervix:	n/a	chr10:50985050-50985070 chr10:50985050-50985070 chr10:50985050-50985064
34	REST	chr10:50984931-50985161	Hela-S3	cervix:	n/a	chr10:50985050-50985070 chr10:50985050-50985070 chr10:50985050-50985064
35	REST	chr10:50984079-50984417	H1-hESC	embryonic stem cell:	n/a	n/a
36	REST	chr10:50984925-50985153	H1-hESC	embryonic stem cell:	n/a	chr10:50985050-50985070 chr10:50985050-50985070 chr10:50985050-50985064
37	REST	chr10:50984920-50985168	SK-N-SH	brain:	n/a	chr10:50985050-50985070 chr10:50985050-50985070 chr10:50985050-50985064
38	RFX5	chr10:50985493-50985684	K562	blood:	n/a	n/a
39	SPI1	chr10:50980566-50980960	HL-60	blood:	n/a	n/a
40	TCF12	chr10:50989156-50989813	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:50983400..50985274-chr10:50988322..50989889,2	K562	blood:
2	chr10:50983400..50985274-chr10:50988322..50989889,2	K562	blood:
3	chr10:50970021..50971776-chr10:50987661..50990067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226389	TF binding region
ENSG00000197444	chromatin interactions

Extended variants
information (count: 391 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563876218	chr10:50980611-50980612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531125229	chr10:50980617-50980618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549541422	chr10:50980737-50980738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561202240	chr10:50980799-50980800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546627258	chr10:50980806-50980807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183592065	chr10:50980807-50980808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187990241	chr10:50980827-50980828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113441747	chr10:50980833-50980834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180854258	chr10:50980842-50980843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186148861	chr10:50980870-50980871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568749753	chr10:50980876-50980877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142591633	chr10:50980885-50980886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554679282	chr10:50981018-50981019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555396942	chr10:50981070-50981071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533853451	chr10:50981093-50981094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568968675	chr10:50981145-50981146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370009787	chr10:50981181-50981182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7072121	chr10:50981186-50981187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs576860846	chr10:50981209-50981210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545762975	chr10:50981210-50981211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190960381	chr10:50981224-50981225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575945161	chr10:50981225-50981226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111835719	chr10:50981234-50981235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79087300	chr10:50981260-50981261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542052772	chr10:50981289-50981290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181778962	chr10:50981307-50981308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186896507	chr10:50981310-50981311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191421290	chr10:50981324-50981325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117053208	chr10:50981328-50981329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550493691	chr10:50981383-50981384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377556849	chr10:50981411-50981412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577901859	chr10:50981430-50981431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576088628	chr10:50981494-50981495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182798106	chr10:50981588-50981589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548100700	chr10:50981620-50981621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566622362	chr10:50981628-50981629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187178381	chr10:50981690-50981691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553846512	chr10:50981692-50981693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558617091	chr10:50981712-50981713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570503843	chr10:50981722-50981723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370145727	chr10:50981741-50981742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537826753	chr10:50981768-50981769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17011995	chr10:50981823-50981824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576021792	chr10:50981873-50981874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543264509	chr10:50981879-50981880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189729344	chr10:50981896-50981897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554867698	chr10:50981916-50981917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573379192	chr10:50981950-50981951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573629816	chr10:50981995-50981996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182343754	chr10:50982042-50982043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50980600-50980800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:50980600-50980800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr10:50980800-50991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:50982600-50983000	Enhancers	Aorta	Aorta

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