Variant report

Variant	nsv947884
Chromosome Location	chr10:43051168-43067229
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	ARID3A	chr10:43052572-43052664	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:43051301-43051501	HepG2	liver:	n/a	n/a
3	CTCF	chr10:43062280-43062430	HepG2	liver:	n/a	n/a
4	CTCF	chr10:43057653-43057682	GM10266	blood:	n/a	n/a
5	FOXA1	chr10:43052403-43052701	HepG2	liver:	n/a	n/a
6	FOXA2	chr10:43052431-43052713	HepG2	liver:	n/a	n/a
7	HDAC2	chr10:43052391-43052705	HepG2	liver:	n/a	n/a
8	HEY1	chr10:43052339-43052700	HepG2	liver:	n/a	n/a
9	HNF4A	chr10:43052426-43052743	HepG2	liver:	n/a	chr10:43052573-43052586 chr10:43052572-43052585 chr10:43052570-43052588 chr10:43052572-43052586 chr10:43052574-43052586 chr10:43052571-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052573-43052585 chr10:43052568-43052590 chr10:43052573-43052585 chr10:43052572-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052572-43052586
10	HNF4A	chr10:43052392-43052697	HepG2	liver:	n/a	chr10:43052573-43052586 chr10:43052572-43052585 chr10:43052570-43052588 chr10:43052572-43052586 chr10:43052574-43052586 chr10:43052571-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052573-43052585 chr10:43052568-43052590 chr10:43052573-43052585 chr10:43052572-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052572-43052586
11	HNF4G	chr10:43052410-43052667	HepG2	liver:	n/a	chr10:43052573-43052586 chr10:43052572-43052585 chr10:43052570-43052588 chr10:43052572-43052586 chr10:43052574-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052573-43052585 chr10:43052568-43052590 chr10:43052573-43052585 chr10:43052572-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052572-43052586 chr10:43052570-43052585
12	KAP1	chr10:43057093-43057647	U2OS	brain:	n/a	n/a
13	KAP1	chr10:43065961-43066152	HEK293	kidney:	n/a	n/a
14	MAFF	chr10:43054785-43054970	HepG2	liver:	n/a	n/a
15	MAFK	chr10:43061410-43061572	HepG2	liver:	n/a	n/a
16	MAFK	chr10:43054783-43055044	HepG2	liver:	n/a	n/a
17	MAFK	chr10:43051147-43051463	HepG2	liver:	n/a	n/a
18	MAFK	chr10:43054796-43055029	HepG2	liver:	n/a	n/a
19	MAFK	chr10:43053003-43053035	HepG2	liver:	n/a	n/a
20	MAFK	chr10:43051143-43051351	HepG2	liver:	n/a	n/a
21	MAX	chr10:43052470-43052706	K562	blood:	n/a	n/a
22	MAX	chr10:43052326-43052737	HepG2	liver:	n/a	n/a
23	MAX	chr10:43052383-43052902	HepG2	liver:	n/a	n/a
24	MAZ	chr10:43052637-43052837	HepG2	liver:	n/a	n/a
25	MXI1	chr10:43052490-43052710	HepG2	liver:	n/a	n/a
26	MYC	chr10:43052561-43052705	HepG2	liver:	n/a	n/a
27	POLR2A	chr10:43060615-43060851	GM12878	blood:	n/a	n/a
28	POLR2A	chr10:43052409-43052576	HepG2	liver:	n/a	n/a
29	POLR2A	chr10:43056895-43057048	GM12878	blood:	n/a	n/a
30	RXRA	chr10:43052422-43052704	HepG2	liver:	n/a	chr10:43052572-43052585 chr10:43052577-43052586 chr10:43052571-43052585 chr10:43052572-43052585 chr10:43052571-43052587 chr10:43052572-43052585 chr10:43052569-43052589
31	SMC3	chr10:43053041-43053095	HepG2	liver:	n/a	n/a
32	SRF	chr10:43062519-43062610	GM12878	blood:	n/a	n/a
33	STAT3	chr10:43061111-43061508	MCF10A-Er-Src	breast:	n/a	chr10:43061433-43061444

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43048254..43049868-chr10:43050241..43052640,2	K562	blood:

Variant related genes	Relation type
ZNF37BP	TF binding region
EIF3LP2	TF binding region
ENSG00000234420	chromatin interactions

Extended variants
information (count: 344 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184709533	chr10:43051191-43051192	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs145410945	chr10:43051262-43051263	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs188814562	chr10:43051282-43051283	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569391794	chr10:43051302-43051303	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560011238	chr10:43051381-43051382	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370177324	chr10:43051426-43051427	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527433209	chr10:43051428-43051429	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142636618	chr10:43051437-43051438	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564347060	chr10:43051530-43051531	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371741508	chr10:43051549-43051550	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531505261	chr10:43051557-43051558	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550128164	chr10:43051568-43051569	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11306632	chr10:43051580-43051581	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568452302	chr10:43051694-43051695	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529323525	chr10:43051715-43051716	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547886783	chr10:43051716-43051717	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111449363	chr10:43051717-43051718	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78225062	chr10:43051739-43051740	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371235913	chr10:43051744-43051745	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35361871	chr10:43051786-43051787	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192076238	chr10:43051826-43051827	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539962172	chr10:43051832-43051833	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558063212	chr10:43051834-43051835	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1147903	chr10:43051835-43051836	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145441655	chr10:43051860-43051861	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184432811	chr10:43051863-43051864	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574065704	chr10:43051887-43051888	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200404738	chr10:43051932-43051933	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577578529	chr10:43051936-43051937	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541426946	chr10:43051941-43051942	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553788565	chr10:43051970-43051971	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111823822	chr10:43051979-43051980	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370455134	chr10:43052036-43052037	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376661324	chr10:43052046-43052047	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540212999	chr10:43052048-43052049	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375283365	chr10:43052064-43052065	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564105964	chr10:43052066-43052067	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113503038	chr10:43052115-43052116	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372910187	chr10:43052145-43052146	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552045217	chr10:43052169-43052170	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571180896	chr10:43052222-43052223	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561986197	chr10:43052285-43052286	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114218883	chr10:43052336-43052337	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533526768	chr10:43052354-43052355	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148856165	chr10:43052355-43052356	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs549364963	chr10:43052385-43052386	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34303833	chr10:43052387-43052388	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs58355620	chr10:43052388-43052389	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs61622828	chr10:43052391-43052392	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs189130265	chr10:43052422-43052423	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	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	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43048800-43052200	Weak transcription	Lung	lung
2	chr10:43049200-43052400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:43050800-43051200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:43050800-43051400	Enhancers	HepG2	liver
5	chr10:43051400-43052600	Flanking Active TSS	HepG2	liver
6	chr10:43052200-43052600	Enhancers	Lung	lung
7	chr10:43052400-43052600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr10:43052600-43053400	Enhancers	HepG2	liver
9	chr10:43053400-43056800	Weak transcription	HepG2	liver
10	chr10:43055400-43057000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:43056400-43056800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:43056400-43058000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:43056600-43056800	Enhancers	Fetal Kidney	kidney
14	chr10:43056800-43057400	Enhancers	HepG2	liver
15	chr10:43057000-43057800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:43057400-43057600	Enhancers	Fetal Kidney	kidney
17	chr10:43058000-43058600	Enhancers	Primary B cells from peripheral blood	blood

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