Variant report

Variant	nsv948146
Chromosome Location	chr10:97350519-97357135
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	chr10:97353270-97353326	GM20000	blood:	n/a	n/a
2	EP300	chr10:97354560-97354585	K562	blood:	n/a	n/a
3	POLR2A	chr10:97354223-97354400	K562	blood:	n/a	n/a
4	POLR2A	chr10:97354617-97355206	K562	blood:	n/a	n/a
5	POLR2A	chr10:97353705-97353844	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97346070..97348552-chr10:97351392..97354029,2	K562	blood:

Variant related genes	Relation type
ENSG00000214362	TF binding region

Extended variants
information (count: 227 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551992930	chr10:97350543-97350544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs473251	chr10:97350587-97350588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369749847	chr10:97350627-97350628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547930093	chr10:97350663-97350664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567629227	chr10:97350705-97350706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184030576	chr10:97350719-97350720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149791981	chr10:97350738-97350739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556547987	chr10:97350745-97350746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185960133	chr10:97350791-97350792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538934429	chr10:97350886-97350887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189684542	chr10:97350920-97350921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140183998	chr10:97351024-97351025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74150958	chr10:97351029-97351030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540690704	chr10:97351051-97351052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373197928	chr10:97351128-97351129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369258611	chr10:97351169-97351170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77743653	chr10:97351204-97351205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145575408	chr10:97351205-97351206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187060883	chr10:97351214-97351215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531867388	chr10:97351239-97351240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80196547	chr10:97351240-97351241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79730652	chr10:97351247-97351248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527904125	chr10:97351264-97351265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561279613	chr10:97351293-97351294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191727548	chr10:97351302-97351303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374610897	chr10:97351309-97351310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377631305	chr10:97351385-97351386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567631911	chr10:97351406-97351407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374561484	chr10:97351430-97351431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536798035	chr10:97351450-97351451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148867123	chr10:97351466-97351467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183600642	chr10:97351490-97351491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188652235	chr10:97351510-97351511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116847306	chr10:97351554-97351555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576696136	chr10:97351577-97351578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140382301	chr10:97351586-97351587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201019428	chr10:97351587-97351588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542503657	chr10:97351611-97351612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565674582	chr10:97351639-97351640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534490285	chr10:97351678-97351679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554392535	chr10:97351686-97351687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574441140	chr10:97351717-97351718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367918755	chr10:97351751-97351752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556634844	chr10:97351757-97351758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11188383	chr10:97351761-97351762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545679119	chr10:97351769-97351770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541636429	chr10:97351782-97351783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565562443	chr10:97351838-97351839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1254093	chr10:97351844-97351845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12784290	chr10:97351882-97351883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	22495311	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
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Prostate cancer	16573809	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97335200-97373400	Weak transcription	Psoas Muscle	Psoas
2	chr10:97339600-97351400	Weak transcription	Placenta	Placenta
3	chr10:97350600-97350800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:97351000-97353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:97353600-97354000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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