Variant report

Variant	nsv975809
Chromosome Location	chr10:20029274-20045738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:20031092-20031318	K562	blood:	n/a	n/a
2	BATF	chr10:20035664-20035859	GM12878	blood:	n/a	n/a
3	BATF	chr10:20035644-20035814	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:20036910-20037233	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:20035655-20035827	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:20035672-20035886	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:20035652-20035896	HepG2	liver:	n/a	n/a
8	BHLHE40	chr10:20036959-20037247	HepG2	liver:	n/a	n/a
9	CEBPB	chr10:20031111-20031430	K562	blood:	n/a	n/a
10	CEBPB	chr10:20038015-20038653	IMR90	lung:	n/a	chr10:20038189-20038200
11	CEBPB	chr10:20038151-20038314	H1-hESC	embryonic stem cell:	n/a	chr10:20038189-20038200
12	CEBPB	chr10:20040519-20040846	IMR90	lung:	n/a	chr10:20040659-20040670
13	CEBPB	chr10:20038041-20038360	HepG2	liver:	n/a	chr10:20038189-20038200
14	CEBPB	chr10:20040537-20040789	HepG2	liver:	n/a	chr10:20040659-20040670
15	CEBPB	chr10:20038058-20038599	Hela-S3	cervix:	n/a	chr10:20038189-20038200
16	CEBPB	chr10:20038066-20038352	A549	lung:	n/a	chr10:20038189-20038200
17	CTCF	chr10:20033361-20033403	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr10:20043497-20043622	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr10:20038200-20038350	AG10803	skin:	n/a	n/a
20	CTCF	chr10:20038260-20038410	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr10:20038180-20038330	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr10:20038200-20038350	NHEK	skin:	n/a	n/a
23	CTCF	chr10:20038146-20038410	IMR90	lung:	n/a	n/a
24	CTCF	chr10:20038140-20038290	HVMF	connective:	n/a	n/a
25	CTCF	chr10:20038200-20038350	AG04450	lung:	n/a	n/a
26	CTCF	chr10:20038300-20038450	AG04450	lung:	n/a	n/a
27	CTCF	chr10:20038120-20038270	HMF	breast:	n/a	n/a
28	CTCF	chr10:20038120-20038270	HVMF	connective:	n/a	n/a
29	CTCF	chr10:20038180-20038330	HMF	breast:	n/a	n/a
30	E2F4	chr10:20038145-20038387	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr10:20035671-20035811	GM12878	blood:	n/a	n/a
32	EP300	chr10:20031236-20031436	K562	blood:	n/a	n/a
33	EP300	chr10:20035650-20035855	GM12878	blood:	n/a	chr10:20035723-20035732
34	FOS	chr10:20038145-20038380	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr10:20038142-20038363	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr10:20038187-20038405	MCF10A-Er-Src	breast:	n/a	n/a
37	FOSL2	chr10:20036936-20037251	HepG2	liver:	n/a	n/a
38	FOSL2	chr10:20035658-20035886	HepG2	liver:	n/a	n/a
39	FOSL2	chr10:20035628-20035910	HepG2	liver:	n/a	n/a
40	FOXA1	chr10:20035634-20035876	HepG2	liver:	n/a	chr10:20035641-20035653
41	FOXA2	chr10:20038882-20039125	HepG2	liver:	n/a	n/a
42	GABPA	chr10:20035662-20035847	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr10:20035675-20035788	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr10:20037015-20037104	Hela-S3	cervix:	n/a	n/a
45	GATA2	chr10:20035654-20035828	K562	blood:	n/a	n/a
46	GATA2	chr10:20031042-20031377	K562	blood:	n/a	n/a
47	GATA3	chr10:20037961-20038729	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr10:20038008-20038738	SK-N-SH	brain:	n/a	n/a
49	HEY1	chr10:20035574-20035963	HepG2	liver:	n/a	n/a
50	HEY1	chr10:20035664-20035793	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:20045444..20047121-chr10:20048455..20050479,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEBL-3	chr10:20045734-20045825	NONHSAT011670
2	lnc-NEBL-3	chr10:20045734-20045825	ucscGeneNc_uc001iqf_2
3	lnc-NEBL-3	chr10:20039263-20040223	NONHSAT011670
4	lnc-NEBL-3	chr10:20039270-20040223	ucscGeneNc_uc001iqf_2

No data

Variant related genes	Relation type
MTND2P16	TF binding region

Extended variants
information (count: 636 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116339836	chr10:20029377-20029378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573642931	chr10:20029402-20029403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540585572	chr10:20029413-20029414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558942449	chr10:20029429-20029430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193292159	chr10:20029458-20029459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548710353	chr10:20029459-20029460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528674222	chr10:20029460-20029461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563274217	chr10:20029481-20029482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546415958	chr10:20029515-20029516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531925073	chr10:20029523-20029524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568609841	chr10:20029572-20029573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112599415	chr10:20029611-20029612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373650453	chr10:20029632-20029633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568724163	chr10:20029692-20029693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529622764	chr10:20029759-20029760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7073601	chr10:20029770-20029771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs35420862	chr10:20029790-20029791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79160367	chr10:20029829-20029830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182511443	chr10:20029842-20029843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375766128	chr10:20029882-20029883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187970040	chr10:20029893-20029894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550558337	chr10:20029919-20029920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553534583	chr10:20029930-20029931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557119769	chr10:20029961-20029962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375761861	chr10:20029983-20029984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537245237	chr10:20029994-20029995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575444042	chr10:20030063-20030064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572092303	chr10:20030079-20030080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398012955	chr10:20030085-20030086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535816159	chr10:20030116-20030117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573567300	chr10:20030127-20030128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373630887	chr10:20030149-20030150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551241826	chr10:20030154-20030155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370961524	chr10:20030195-20030196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569304843	chr10:20030218-20030219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56964769	chr10:20030254-20030255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552879783	chr10:20030319-20030320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60461887	chr10:20030325-20030326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544721110	chr10:20030348-20030349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563394549	chr10:20030364-20030365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184035729	chr10:20030392-20030393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11011369	chr10:20030442-20030443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562283721	chr10:20030443-20030444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188771801	chr10:20030450-20030451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548086766	chr10:20030454-20030455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192116440	chr10:20030456-20030457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76419953	chr10:20030473-20030474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551529193	chr10:20030507-20030508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533994616	chr10:20030543-20030544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140468071	chr10:20030551-20030552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:20003400-20051400	Weak transcription	Fetal Intestine Large	intestine
2	chr10:20031000-20031600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:20031200-20031600	Enhancers	Ovary	ovary
4	chr10:20034400-20035000	Active TSS	HSMMtube	muscle
5	chr10:20035000-20038600	Weak transcription	HSMMtube	muscle
6	chr10:20038200-20038800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:20038200-20038800	Enhancers	HMEC	breast
8	chr10:20038200-20039000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr10:20038200-20039000	Enhancers	NHEK	skin
10	chr10:20038200-20039200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:20038200-20039200	Enhancers	HSMM	muscle
12	chr10:20038400-20038800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:20038400-20038800	Enhancers	NH-A	brain
14	chr10:20038600-20039000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:20038600-20039000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:20038600-20039000	Enhancers	Osteobl	bone
17	chr10:20038600-20039200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:20038600-20039200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:20038600-20039200	Enhancers	HSMMtube	muscle
20	chr10:20038600-20039200	Enhancers	NHLF	lung
21	chr10:20038800-20039000	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr10:20039200-20039600	Weak transcription	Fetal Intestine Small	intestine
23	chr10:20045600-20045800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr10:20045600-20046000	Active TSS	Brain Anterior Caudate	brain
25	chr10:20045600-20046200	Active TSS	Brain Cingulate Gyrus	brain
26	chr10:20045600-20046400	Active TSS	Brain Hippocampus Middle	brain

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