Variant report

Variant	nsv948195
Chromosome Location	chr10:118198121-118199888
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	E2F4	chr10:118199881-118200398	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr10:118199751-118200658	MCF10A-Er-Src	breast:	n/a	chr10:118200061-118200069
3	FOS	chr10:118199814-118200450	MCF10A-Er-Src	breast:	n/a	chr10:118200061-118200069
4	FOS	chr10:118199749-118200605	MCF10A-Er-Src	breast:	n/a	chr10:118200061-118200069
5	FOS	chr10:118199839-118200597	MCF10A-Er-Src	breast:	n/a	chr10:118200061-118200069
6	MYC	chr10:118199798-118200488	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr10:118199864-118200090	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr10:118199495-118200770	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr10:118198319-118198461	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr10:118199833-118200495	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr10:118199817-118200561	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
HMGB3P8	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551915025	chr10:118198148-118198149	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182737623	chr10:118198178-118198179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76917563	chr10:118198187-118198188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149343854	chr10:118198240-118198241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574524604	chr10:118198252-118198253	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574257863	chr10:118198253-118198254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386747981	chr10:118198268-118198269	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113674839	chr10:118198269-118198270	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10885934	chr10:118198270-118198271	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574907009	chr10:118198271-118198272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10885935	chr10:118198276-118198277	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144680339	chr10:118198279-118198280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187759713	chr10:118198319-118198320	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540407727	chr10:118198346-118198347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560118759	chr10:118198352-118198353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529160232	chr10:118198413-118198414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549023122	chr10:118198420-118198421	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562831512	chr10:118198439-118198440	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549425160	chr10:118198457-118198458	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531740098	chr10:118198499-118198500	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551845388	chr10:118198501-118198502	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148523684	chr10:118198537-118198538	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534066049	chr10:118198568-118198569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547947205	chr10:118198571-118198572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141913659	chr10:118198582-118198583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536914596	chr10:118198607-118198608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560908342	chr10:118198645-118198646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191954049	chr10:118198674-118198675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146242466	chr10:118198696-118198697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570063485	chr10:118198700-118198701	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139332200	chr10:118198748-118198749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531208448	chr10:118198770-118198771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557368880	chr10:118198780-118198781	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577647604	chr10:118198822-118198823	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539977635	chr10:118198824-118198825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553898528	chr10:118198826-118198827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200520982	chr10:118198972-118198973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373373026	chr10:118198973-118198974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80163012	chr10:118198996-118198997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183010677	chr10:118199002-118199003	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201814657	chr10:118199025-118199026	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187543535	chr10:118199058-118199059	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562768257	chr10:118199062-118199063	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531677464	chr10:118199075-118199076	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549861475	chr10:118199077-118199078	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146506647	chr10:118199083-118199084	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565306085	chr10:118199094-118199095	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527756971	chr10:118199144-118199145	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547588925	chr10:118199149-118199150	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192966298	chr10:118199150-118199151	Strong transcription Weak transcription Genic enhancers	n/a	n/a	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118191600-118216200	Weak transcription	Pancreas	Pancrea
2	chr10:118197000-118199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:118197000-118199600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:118197200-118199400	Strong transcription	NHEK	skin
5	chr10:118197800-118199200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:118198000-118199000	Strong transcription	HMEC	breast
7	chr10:118199000-118202000	Genic enhancers	HMEC	breast
8	chr10:118199200-118201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:118199200-118202200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:118199400-118201400	Genic enhancers	NHEK	skin
11	chr10:118199600-118199800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:118199800-118200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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