Variant report

Variant	nsv975681
Chromosome Location	chr10:46173351-46177673
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	chr10:46174241-46174332	HepG2	liver:	n/a	n/a
2	CTCF	chr10:46174322-46174399	K562	blood:	n/a	n/a
3	CTCF	chr10:46174244-46174343	MCF-7	breast:	n/a	n/a
4	CTCF	chr10:46174260-46174410	HepG2	liver:	n/a	n/a
5	FOSL2	chr10:46174387-46174625	HepG2	liver:	n/a	n/a
6	MYC	chr10:46174255-46174347	MCF-7	breast:	n/a	n/a
7	MYC	chr10:46174352-46174359	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CTGLF10P	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149543698	chr10:46174412-46174413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560072921	chr10:46174420-46174421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572122016	chr10:46174445-46174446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372247417	chr10:46174463-46174464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531734830	chr10:46174474-46174475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371519816	chr10:46174487-46174488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201775122	chr10:46174491-46174492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562146972	chr10:46174504-46174505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184736664	chr10:46174537-46174538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144894596	chr10:46174544-46174545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143123883	chr10:46174578-46174579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565652886	chr10:46174581-46174582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532933749	chr10:46174582-46174583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199542258	chr10:46174603-46174604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116783030	chr10:46174606-46174607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569757749	chr10:46174633-46174634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536792318	chr10:46174639-46174640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555489027	chr10:46174650-46174651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567356058	chr10:46174659-46174660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534880726	chr10:46174667-46174668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35389736	chr10:46174670-46174671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181452904	chr10:46174683-46174684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138643555	chr10:46174690-46174691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557780049	chr10:46174707-46174708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369563570	chr10:46174727-46174728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184811451	chr10:46174753-46174754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200054108	chr10:46174777-46174778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373361618	chr10:46174785-46174786	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46174400-46174800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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