Variant report

Variant	nsv982886
Chromosome Location	chr10:90510823-90516960
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	ATF2	chr10:90515422-90515874	GM12878	blood:	n/a	n/a
2	BATF	chr10:90515512-90515803	GM12878	blood:	n/a	n/a
3	BATF	chr10:90515522-90515890	GM12878	blood:	n/a	n/a
4	BCL3	chr10:90515526-90515892	GM12878	blood:	n/a	n/a
5	CEBPB	chr10:90515399-90515928	GM12878	blood:	n/a	n/a
6	CTCF	chr10:90514162-90514213	Fibrobl	skin:	n/a	n/a
7	EBF1	chr10:90515540-90515969	GM12878	blood:	n/a	chr10:90515823-90515834
8	EP300	chr10:90513715-90514656	SK-N-SH	brain:	n/a	n/a
9	EP300	chr10:90513928-90514420	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr10:90513779-90514700	SK-N-SH	brain:	n/a	n/a
11	EP300	chr10:90513943-90514398	SK-N-SH_RA	brain:	n/a	n/a
12	FOS	chr10:90513985-90514483	HUVEC	blood vessel:	n/a	chr10:90514266-90514277
13	FOS	chr10:90514126-90514309	MCF10A-Er-Src	breast:	n/a	chr10:90514266-90514277
14	FOS	chr10:90514116-90514406	MCF10A-Er-Src	breast:	n/a	chr10:90514266-90514277
15	FOS	chr10:90514115-90514415	MCF10A-Er-Src	breast:	n/a	chr10:90514266-90514277
16	FOSL2	chr10:90513843-90514586	SK-N-SH	brain:	n/a	n/a
17	FOXM1	chr10:90515453-90515871	GM12878	blood:	n/a	n/a
18	GATA2	chr10:90514004-90514370	SH-SY5Y	brain:	n/a	n/a
19	GATA2	chr10:90514013-90514761	HUVEC	blood vessel:	n/a	chr10:90514369-90514379
20	GATA3	chr10:90513782-90514939	SK-N-SH	brain:	n/a	chr10:90514369-90514379
21	GATA3	chr10:90514493-90514721	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr10:90515337-90515500	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr10:90513794-90514926	SK-N-SH	brain:	n/a	chr10:90514369-90514379
24	IRF4	chr10:90515396-90515870	GM12878	blood:	n/a	n/a
25	JUND	chr10:90513758-90514621	SK-N-SH	brain:	n/a	n/a
26	JUND	chr10:90513853-90514598	SK-N-SH	brain:	n/a	n/a
27	JUND	chr10:90513784-90514635	SK-N-SH	brain:	n/a	n/a
28	MAFF	chr10:90516446-90516774	HepG2	liver:	n/a	n/a
29	MAFK	chr10:90516480-90516769	HepG2	liver:	n/a	n/a
30	MAFK	chr10:90513848-90513870	HepG2	liver:	n/a	n/a
31	MAFK	chr10:90515079-90515362	HepG2	liver:	n/a	n/a
32	MAFK	chr10:90516474-90516770	IMR90	lung:	n/a	n/a
33	MAFK	chr10:90516444-90516790	HepG2	liver:	n/a	n/a
34	MAX	chr10:90514089-90514533	SK-N-SH	brain:	n/a	n/a
35	MEF2A	chr10:90513938-90514567	SK-N-SH	brain:	n/a	chr10:90514124-90514132
36	MYC	chr10:90514208-90514459	MCF10A-Er-Src	breast:	n/a	n/a
37	NFIC	chr10:90515462-90515953	GM12878	blood:	n/a	n/a
38	NFIC	chr10:90513883-90514479	SK-N-SH	brain:	n/a	n/a
39	NFIC	chr10:90513738-90514691	SK-N-SH	brain:	n/a	n/a
40	PBX3	chr10:90513888-90514566	SK-N-SH	brain:	n/a	n/a
41	PBX3	chr10:90513757-90514558	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr10:90513999-90514520	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr10:90514107-90514359	SK-N-SH	brain:	n/a	n/a
44	REST	chr10:90514076-90514308	SK-N-SH	brain:	n/a	n/a
45	RUNX3	chr10:90515456-90515871	GM12878	blood:	n/a	n/a
46	RXRA	chr10:90513865-90514615	SK-N-SH	brain:	n/a	n/a
47	SPI1	chr10:90515572-90515791	GM12891	blood:	n/a	n/a
48	STAT3	chr10:90514218-90514281	MCF10A-Er-Src	breast:	n/a	n/a
49	TAF1	chr10:90514133-90514317	SK-N-SH	brain:	n/a	n/a
50	TCF12	chr10:90513673-90514781	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90513902..90514787-chr9:127542532..127543165,2	MCF-7	breast:
2	chr10:90515063..90517764-chr10:90518050..90519657,2	MCF-7	breast:

Variant related genes	Relation type
LIPN	TF binding region

Extended variants
information (count: 220 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:220 , 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	rs562747282	chr10:90510838-90510839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs364303	chr10:90510882-90510883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188372652	chr10:90510933-90510934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10887852	chr10:90510939-90510940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs117487068	chr10:90510953-90510954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs436833	chr10:90511039-90511040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549387619	chr10:90511047-90511048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575538548	chr10:90511072-90511073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181974959	chr10:90511084-90511085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527659468	chr10:90511114-90511115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74147264	chr10:90511117-90511118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571388818	chr10:90511122-90511123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185834225	chr10:90511136-90511137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377423	chr10:90511169-90511170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540661963	chr10:90511181-90511182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142627384	chr10:90511218-90511219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71471116	chr10:90511252-90511253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535983361	chr10:90511309-90511310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs408922	chr10:90511316-90511317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs409330	chr10:90511325-90511326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117951825	chr10:90511430-90511431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77596673	chr10:90511457-90511458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578086010	chr10:90511469-90511470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545278407	chr10:90511470-90511471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146043426	chr10:90511476-90511477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189907855	chr10:90511498-90511499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543173702	chr10:90511516-90511517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537232060	chr10:90511519-90511520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs428425	chr10:90511532-90511533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531627760	chr10:90511535-90511536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549156377	chr10:90511536-90511537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73352676	chr10:90511547-90511548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375790	chr10:90511711-90511712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374430255	chr10:90511730-90511731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139918587	chr10:90511731-90511732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113289411	chr10:90511734-90511735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75854608	chr10:90511758-90511759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143410593	chr10:90511762-90511763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529724618	chr10:90511776-90511777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547895673	chr10:90511810-90511811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569604743	chr10:90511832-90511833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536645136	chr10:90511845-90511846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556772973	chr10:90511871-90511872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566191767	chr10:90511881-90511882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs365847	chr10:90511911-90511912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs372219788	chr10:90511930-90511931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539385612	chr10:90511948-90511949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554387378	chr10:90511955-90511956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182191710	chr10:90511995-90511996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78826650	chr10:90512039-90512040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	21147910	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Bipolar disorder	19114987	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90495600-90514000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:90511000-90513200	Weak transcription	NHEK	skin
3	chr10:90513000-90515000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:90513200-90514600	Enhancers	NHEK	skin
5	chr10:90513800-90514000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:90513800-90514800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:90513800-90514800	Enhancers	NHDF-Ad	bronchial
8	chr10:90513800-90515000	Enhancers	Osteobl	bone
9	chr10:90513800-90515400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:90513800-90515400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:90513800-90515800	Enhancers	HUVEC	blood vessel
12	chr10:90514000-90514200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:90514000-90514400	Enhancers	HMEC	breast
14	chr10:90514000-90514400	Enhancers	NHLF	lung
15	chr10:90514000-90514600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:90514000-90514600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:90514000-90514600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:90514000-90514600	Enhancers	HSMM	muscle
19	chr10:90514000-90514800	Enhancers	Hela-S3	cervix
20	chr10:90514000-90515000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:90514200-90514600	Enhancers	Primary hematopoietic stem cells	blood
22	chr10:90514200-90514600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:90514200-90514800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:90514600-90519400	Weak transcription	HSMM	muscle
25	chr10:90514600-90523200	Weak transcription	NHEK	skin
26	chr10:90514800-90523400	Weak transcription	Hela-S3	cervix
27	chr10:90515000-90523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:90515400-90519000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:90515400-90519400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:90516600-90517000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr10:90516600-90517200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr10:90516600-90517200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr10:90516600-90517200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr10:90516600-90517200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr10:90516800-90517400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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