Variant report

Variant	nsv1047591
Chromosome Location	chr10:118087220-118126822
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	CEBPB	chr10:118113400-118113467	HepG2	liver:	n/a	chr10:118113418-118113429
2	CEBPB	chr10:118115116-118115349	HepG2	liver:	n/a	chr10:118115256-118115267
3	CEBPB	chr10:118104881-118104911	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr10:118126200-118126350	GM06990	blood:	n/a	n/a
5	E2F4	chr10:118087039-118087502	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr10:118118073-118118254	MCF10A-Er-Src	breast:	n/a	n/a
7	EGR1	chr10:118114044-118114209	GM12878	blood:	n/a	n/a
8	EP300	chr10:118110899-118111038	K562	blood:	n/a	n/a
9	FOS	chr10:118091337-118091678	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr10:118113276-118113780	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr10:118091403-118091605	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr10:118113257-118113735	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr10:118113253-118113819	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr10:118091363-118091660	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr10:118091266-118091679	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr10:118113237-118113834	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr10:118112073-118112264	SH-SY5Y	brain:	n/a	n/a
18	JUN	chr10:118123759-118123817	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUN	chr10:118113395-118113527	HepG2	liver:	n/a	chr10:118113415-118113428
20	JUND	chr10:118113454-118113538	HepG2	liver:	n/a	n/a
21	MAFF	chr10:118116404-118116683	K562	blood:	n/a	chr10:118116537-118116555
22	MAFF	chr10:118122252-118122387	HepG2	liver:	n/a	chr10:118122308-118122322 chr10:118122302-118122320
23	MAFF	chr10:118124353-118124703	HepG2	liver:	n/a	chr10:118124511-118124529
24	MAFF	chr10:118096430-118096728	HepG2	liver:	n/a	n/a
25	MAFF	chr10:118116367-118116716	HepG2	liver:	n/a	chr10:118116537-118116555
26	MAFK	chr10:118124349-118124694	HepG2	liver:	n/a	chr10:118124513-118124528 chr10:118124513-118124529 chr10:118124518-118124527
27	MAFK	chr10:118116372-118116691	K562	blood:	n/a	chr10:118116542-118116559 chr10:118116539-118116550 chr10:118116539-118116554 chr10:118116539-118116555 chr10:118116539-118116550 chr10:118116538-118116552 chr10:118116540-118116551
28	MAFK	chr10:118118391-118118564	HepG2	liver:	n/a	n/a
29	MAFK	chr10:118116374-118116721	IMR90	lung:	n/a	chr10:118116542-118116559 chr10:118116539-118116550 chr10:118116539-118116554 chr10:118116539-118116555 chr10:118116539-118116550 chr10:118116538-118116552 chr10:118116540-118116551
30	MAFK	chr10:118096400-118096749	HepG2	liver:	n/a	chr10:118096561-118096576 chr10:118096561-118096572
31	MAFK	chr10:118122228-118122454	HepG2	liver:	n/a	chr10:118122311-118122321 chr10:118122305-118122325 chr10:118122308-118122322
32	MAFK	chr10:118124350-118124700	HepG2	liver:	n/a	chr10:118124513-118124528 chr10:118124513-118124529 chr10:118124518-118124527
33	MAFK	chr10:118096418-118096709	HepG2	liver:	n/a	chr10:118096561-118096576 chr10:118096561-118096572
34	MAFK	chr10:118124361-118124672	IMR90	lung:	n/a	chr10:118124513-118124528 chr10:118124513-118124529 chr10:118124518-118124527
35	MAFK	chr10:118096424-118096714	IMR90	lung:	n/a	chr10:118096561-118096576 chr10:118096561-118096572
36	MAFK	chr10:118116366-118116733	HepG2	liver:	n/a	chr10:118116542-118116559 chr10:118116539-118116550 chr10:118116539-118116554 chr10:118116539-118116555 chr10:118116539-118116550 chr10:118116538-118116552 chr10:118116540-118116551
37	MAFK	chr10:118116378-118116711	HepG2	liver:	n/a	chr10:118116542-118116559 chr10:118116539-118116550 chr10:118116539-118116554 chr10:118116539-118116555 chr10:118116539-118116550 chr10:118116538-118116552 chr10:118116540-118116551
38	MYC	chr10:118113307-118113794	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr10:118124027-118124546	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr10:118091396-118091677	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr10:118113044-118113712	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr10:118123219-118123341	Gliobla	brain:	n/a	n/a
43	POLR2A	chr10:118113325-118113612	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr10:118098871-118098966	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr10:118108408-118108515	Gliobla	brain:	n/a	n/a
46	POLR2A	chr10:118102217-118102294	GM12878	blood:	n/a	n/a
47	POLR2A	chr10:118113212-118113664	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr10:118095541-118095664	MCF-7	breast:	n/a	n/a
49	POLR2A	chr10:118110167-118110246	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr10:118121297-118121328	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:118091784..118093842-chr10:118107566..118109369,2	MCF-7	breast:
2	chr10:118120948..118123709-chr10:118126113..118128028,2	MCF-7	breast:
3	chr10:118091784..118093842-chr10:118107566..118109369,2	MCF-7	breast:
4	chr10:118120948..118123709-chr10:118126113..118128028,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PNLIPRP3-2	chr10:118100248-118100362	NONHSAT016485
2	lnc-PNLIPRP3-2	chr10:118101548-118101745	NONHSAT016485

Variant related genes	Relation type
CCDC172	TF binding region

Extended variants
information (count: 175 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12416239	chr10:118087220-118087221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185548935	chr10:118087265-118087266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539084324	chr10:118087267-118087268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10430687	chr10:118087298-118087299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs577167273	chr10:118087341-118087342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541352410	chr10:118087579-118087580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113615581	chr10:118092636-118092637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532444488	chr10:118092666-118092667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368278828	chr10:118092690-118092691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547754008	chr10:118092715-118092716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554928429	chr10:118092723-118092724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189114187	chr10:118092733-118092734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111841630	chr10:118092876-118092877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578120791	chr10:118092889-118092890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372998389	chr10:118092934-118092935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576919120	chr10:118092942-118092943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546749805	chr10:118093064-118093065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193018671	chr10:118093100-118093101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574351918	chr10:118093144-118093145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149170536	chr10:118093163-118093164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545456968	chr10:118093171-118093172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376026925	chr10:118093196-118093197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11817085	chr10:118095571-118095572	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373995109	chr10:118095604-118095605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs529012656	chr10:118095605-118095606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs77003674	chr10:118095623-118095624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4508123	chr10:118095647-118095648	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561389701	chr10:118095658-118095659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs75418416	chr10:118096407-118096408	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs139848433	chr10:118096442-118096443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532455372	chr10:118096467-118096468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538866513	chr10:118096559-118096560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs185381012	chr10:118096564-118096565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs145334633	chr10:118096611-118096612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs550802850	chr10:118096647-118096648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs111637892	chr10:118096667-118096668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs386372555	chr10:118096668-118096669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs35181377	chr10:118096682-118096683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs78746879	chr10:118096690-118096691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs540528730	chr10:118096691-118096692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537820999	chr10:118098927-118098928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs556435358	chr10:118098955-118098956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs137998964	chr10:118100258-118100259	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs117513116	chr10:118100268-118100269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs373054155	chr10:118100298-118100299	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs189853450	chr10:118100319-118100320	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs200926954	chr10:118100328-118100329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs145954478	chr10:118100338-118100339	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs377376030	chr10:118100359-118100360	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs375961590	chr10:118101559-118101560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118085600-118087400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr10:118086800-118087600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr10:118087200-118087400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:118092600-118093200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:118109200-118110400	Weak transcription	Fetal Brain Male	brain
6	chr10:118109400-118110000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:118113000-118113800	Enhancers	HMEC	breast
8	chr10:118113000-118114400	Enhancers	NHEK	skin
9	chr10:118113200-118114000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:118113400-118113800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:118124000-118124800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:118124400-118124800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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