Variant report

Variant	nsv552213
Chromosome Location	chr10:118767603-118768894
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

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

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

Extended variants
information (count: 33 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530004284	chr10:118767626-118767627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374089023	chr10:118767719-118767720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180771284	chr10:118767760-118767761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372308706	chr10:118767766-118767767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185764407	chr10:118767821-118767822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568194284	chr10:118767890-118767891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191360582	chr10:118768039-118768040	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572310057	chr10:118768089-118768090	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532457894	chr10:118768142-118768143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs72833424	chr10:118768178-118768179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552745022	chr10:118768228-118768229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142926820	chr10:118768315-118768316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535346646	chr10:118768322-118768323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146622418	chr10:118768334-118768335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139105126	chr10:118768346-118768347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563332368	chr10:118768363-118768364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186958904	chr10:118768367-118768368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531082882	chr10:118768377-118768378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538315080	chr10:118768396-118768397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369247163	chr10:118768405-118768406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141448971	chr10:118768406-118768407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60882013	chr10:118768407-118768408	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541335080	chr10:118768525-118768526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191414036	chr10:118768580-118768581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574371929	chr10:118768581-118768582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543460914	chr10:118768599-118768600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563299318	chr10:118768630-118768631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532469839	chr10:118768649-118768650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183241057	chr10:118768708-118768709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559910461	chr10:118768721-118768722	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187636901	chr10:118768722-118768723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549189918	chr10:118768730-118768731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532941597	chr10:118768851-118768852	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118766600-118768200	Weak transcription	Brain Hippocampus Middle	brain
2	chr10:118767200-118767800	Weak transcription	A549	lung

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