Variant report

Variant	nsv552212
Chromosome Location	chr10:118767117-118768280
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	chr10:118767940-118768090	HPF	lung:	n/a	n/a
2	E2F4	chr10:118766297-118767185	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr10:118766378-118767132	K562	blood:	n/a	chr10:118766750-118766759 chr10:118766749-118766758
4	EP300	chr10:118766456-118767123	SK-N-SH	brain:	n/a	chr10:118766750-118766759 chr10:118766749-118766758
5	FOSL1	chr10:118766016-118767292	HCT-116	colon:	n/a	chr10:118766748-118766759 chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
6	FOSL1	chr10:118766077-118767122	HCT-116	colon:	n/a	chr10:118766748-118766759 chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
7	FOSL2	chr10:118766238-118767121	A549	lung:	n/a	chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
8	GATA3	chr10:118766313-118767181	SK-N-SH	brain:	n/a	chr10:118766761-118766770
9	JUND	chr10:118766000-118767155	HCT-116	colon:	n/a	chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
10	JUND	chr10:118766572-118767173	SK-N-SH	brain:	n/a	chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766758-118766770 chr10:118766750-118766759
11	JUND	chr10:118766051-118767149	HCT-116	colon:	n/a	chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
12	MAFF	chr10:118766223-118767132	K562	blood:	n/a	chr10:118766741-118766759
13	NFIC	chr10:118766357-118767172	SK-N-SH	brain:	n/a	n/a
14	NFIC	chr10:118766403-118767201	ECC-1	luminal epithelium:	n/a	n/a
15	SP1	chr10:118765991-118767161	HCT-116	colon:	n/a	n/a
16	TCF12	chr10:118766321-118767141	SK-N-SH	brain:	n/a	n/a
17	ZNF384	chr10:118765935-118767164	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:118763331..118765453-chr10:118765627..118768169,2	MCF-7	breast:
2	chr10:118764547..118766196-chr10:118768228..118770717,2	MCF-7	breast:
3	chr10:118765114..118768175-chr10:118770999..118774519,3	K562	blood:

Variant related genes	Relation type
KIAA1598	TF binding region
ENSG00000187164	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17095519	chr10:118767117-118767118	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568904945	chr10:118767120-118767121	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373794401	chr10:118767128-118767129	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12569743	chr10:118767154-118767155	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140366722	chr10:118767162-118767163	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563523107	chr10:118767190-118767191	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565555784	chr10:118767200-118767201	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs117967254	chr10:118767207-118767208	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573527323	chr10:118767225-118767226	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188308809	chr10:118767254-118767255	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556328536	chr10:118767290-118767291	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369671670	chr10:118767294-118767295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10736262	chr10:118767305-118767306	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545271489	chr10:118767416-118767417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564922874	chr10:118767422-118767423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572316193	chr10:118767444-118767445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540923460	chr10:118767495-118767496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10886021	chr10:118767564-118767565	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs530004284	chr10:118767626-118767627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374089023	chr10:118767719-118767720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs180771284	chr10:118767760-118767761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372308706	chr10:118767766-118767767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185764407	chr10:118767821-118767822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568194284	chr10:118767890-118767891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191360582	chr10:118768039-118768040	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572310057	chr10:118768089-118768090	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532457894	chr10:118768142-118768143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs72833424	chr10:118768178-118768179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552745022	chr10:118768228-118768229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118765600-118767200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr10:118766200-118767200	Flanking Active TSS	A549	lung
3	chr10:118766600-118767200	Enhancers	K562	blood
4	chr10:118766600-118768200	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:118767200-118767800	Weak transcription	A549	lung

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