Variant report

Variant	esv3339455
Chromosome Location	chr10:118202762-118203910
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	chr10:118203600-118203750	BJ	skin:	n/a	n/a
2	CTCF	chr10:118203800-118203950	A549	lung:	n/a	n/a
3	CTCF	chr10:118203907-118203994	GM10248	blood:	n/a	n/a
4	CTCF	chr10:118203560-118203710	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr10:118203870-118204645	A549	lung:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
6	CTCF	chr10:118203878-118204550	SK-N-SH	brain:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
7	MAFK	chr10:118203871-118204308	HepG2	liver:	n/a	chr10:118204281-118204297 chr10:118203987-118204002
8	MAFK	chr10:118203877-118204351	HepG2	liver:	n/a	chr10:118204281-118204297 chr10:118203987-118204002
9	RAD21	chr10:118203872-118204686	SK-N-SH	brain:	n/a	chr10:118204217-118204236 chr10:118204218-118204227 chr10:118204222-118204234
10	RFX5	chr10:118203785-118204250	K562	blood:	n/a	n/a
11	SMC3	chr10:118203885-118204574	SK-N-SH	brain:	n/a	chr10:118204218-118204232

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:118203849..118204351-chr10:118355767..118356380,2	MCF-7	breast:

Variant related genes	Relation type
HMGB3P8	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575920639	chr10:118202795-118202796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535562132	chr10:118202807-118202808	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558488104	chr10:118202808-118202809	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182129680	chr10:118202875-118202876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545769204	chr10:118202972-118202973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75072598	chr10:118203000-118203001	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112348492	chr10:118203005-118203006	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572557592	chr10:118203027-118203028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541539707	chr10:118203056-118203057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187186137	chr10:118203086-118203087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191774469	chr10:118203098-118203099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368980003	chr10:118203130-118203131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148703005	chr10:118203135-118203136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201595033	chr10:118203140-118203141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201511265	chr10:118203141-118203142	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199814938	chr10:118203142-118203143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376699528	chr10:118203152-118203153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201872821	chr10:118203164-118203165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369738799	chr10:118203166-118203167	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151141897	chr10:118203220-118203221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369976900	chr10:118203258-118203259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113052424	chr10:118203273-118203274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200530794	chr10:118203275-118203276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201265696	chr10:118203276-118203277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113326866	chr10:118203277-118203278	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566769610	chr10:118203283-118203284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535913551	chr10:118203287-118203288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193283188	chr10:118203299-118203300	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2033396	chr10:118203307-118203308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6144112	chr10:118203310-118203311	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374493311	chr10:118203311-118203312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202041955	chr10:118203312-118203313	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112154188	chr10:118203314-118203315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185649510	chr10:118203371-118203372	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572033370	chr10:118203377-118203378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371783838	chr10:118203386-118203387	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2033397	chr10:118203428-118203429	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576786679	chr10:118203454-118203455	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544161620	chr10:118203462-118203463	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558102135	chr10:118203547-118203548	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578181348	chr10:118203554-118203555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534245890	chr10:118203603-118203604	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs190462354	chr10:118203606-118203607	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs111947653	chr10:118203616-118203617	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192326731	chr10:118203637-118203638	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs541477800	chr10:118203665-118203666	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183603036	chr10:118203667-118203668	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs575033780	chr10:118203670-118203671	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs543986798	chr10:118203706-118203707	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111244526	chr10:118203750-118203751	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118191600-118216200	Weak transcription	Pancreas	Pancrea
2	chr10:118201400-118203600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:118202000-118207000	Strong transcription	HMEC	breast
4	chr10:118202000-118225400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:118202200-118224000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:118202600-118212600	Strong transcription	NHEK	skin
7	chr10:118203600-118207400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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