Variant report

Variant	nsv1046998
Chromosome Location	chr10:19973096-20031468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:349)
CpG islands
(count:306)
Chromatin interactive
region (count:3)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:349 , 50 per page) page: 1 2 3 4 5 6 7

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	ATF1	chr10:20024073-20024273	K562	blood:	n/a	n/a
3	ATF1	chr10:20019092-20019388	K562	blood:	n/a	n/a
4	CEBPB	chr10:20023681-20023947	HepG2	liver:	n/a	n/a
5	CEBPB	chr10:20023742-20023942	A549	lung:	n/a	n/a
6	CEBPB	chr10:20031111-20031430	K562	blood:	n/a	n/a
7	CEBPB	chr10:20006851-20006880	HepG2	liver:	n/a	n/a
8	CEBPB	chr10:20002775-20003063	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr10:19996370-19996656	HepG2	liver:	n/a	chr10:19996526-19996537 chr10:19996526-19996539
10	CEBPB	chr10:19996466-19996579	A549	lung:	n/a	chr10:19996526-19996537 chr10:19996526-19996539
11	CEBPB	chr10:20005435-20005535	A549	lung:	n/a	n/a
12	CEBPB	chr10:19991211-19991537	IMR90	lung:	n/a	n/a
13	CTCF	chr10:19973060-19973210	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:20002907-20002911	HepG2	liver:	n/a	n/a
15	CTCF	chr10:19988391-19988463	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:20022780-20022930	HEK293	kidney:	n/a	n/a
17	CTCF	chr10:20002600-20002750	NHLF	lung:	n/a	n/a
18	CTCF	chr10:19973107-19973185	HepG2	liver:	n/a	n/a
19	CTCF	chr10:20002760-20002910	GM12872	blood:	n/a	n/a
20	CTCF	chr10:19973100-19973250	RPTEC	kidney:	n/a	n/a
21	CTCF	chr10:19973128-19973169	ProgFib	skin:	n/a	n/a
22	CTCF	chr10:20002860-20003010	MCF-7	breast:	n/a	n/a
23	CTCF	chr10:20014063-20014138	GM10266	blood:	n/a	n/a
24	CTCF	chr10:20022780-20022930	HepG2	liver:	n/a	n/a
25	CTCF	chr10:20022862-20022870	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr10:20002740-20002890	HAc	cerebellar:	n/a	n/a
27	CTCF	chr10:20003000-20003150	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr10:19973100-19973250	SAEC	small airway:	n/a	n/a
29	CTCF	chr10:19988312-19988531	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr10:20002860-20003010	NHEK	skin:	n/a	n/a
31	CTCF	chr10:19988392-19988455	MCF-7	breast:	n/a	n/a
32	CTCF	chr10:19988398-19988464	NHEK	skin:	n/a	n/a
33	CTCF	chr10:20002753-20003022	K562	blood:	n/a	n/a
34	CTCF	chr10:19973413-19973469	ProgFib	skin:	n/a	n/a
35	CTCF	chr10:19973120-19973270	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr10:19973100-19973250	AG09319	gingival:	n/a	n/a
37	CTCF	chr10:20002840-20002990	HepG2	liver:	n/a	n/a
38	CTCF	chr10:19973080-19973230	NHLF	lung:	n/a	n/a
39	CTCF	chr10:19973095-19973213	MCF-7	breast:	n/a	n/a
40	CTCF	chr10:20002820-20002970	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:20002800-20002950	BE2_C	brain:	n/a	n/a
42	CTCF	chr10:20002800-20002950	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr10:19973200-19973350	HFF	foreskin:	n/a	n/a
44	CTCF	chr10:19988348-19988496	MCF-7	breast:	n/a	n/a
45	CTCF	chr10:20002800-20002950	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr10:20002760-20002910	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr10:20002760-20002910	GM12866	blood:	n/a	n/a
48	CTCF	chr10:20002867-20002909	GM12891	blood:	n/a	n/a
49	CTCF	chr10:19973120-19973270	HVMF	connective:	n/a	n/a
50	CTCF	chr10:19988364-19988484	H1-hESC	embryonic stem cell:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:20019641-20019691	HAEpiC	amniotic membrane:	n/a
2	chr10:20019641-20019691	HAEpiC	amniotic membrane:	n/a
3	chr10:20019641-20019691	HCT-116	colon:	n/a
4	chr10:20023014-20023064	HCM	heart:	n/a
5	chr10:20023014-20023064	Caco-2	colon:	n/a
6	chr10:20009221-20009271	ECC-1	luminal epithelium:	n/a
7	chr10:20009221-20009271	Caco-2	colon:	n/a
8	chr10:20023014-20023064	GM12878	blood:	n/a
9	chr10:20019641-20019691	HepG2	liver:	n/a
10	chr10:20019641-20019691	MCF10A-Er-Src	breast:	n/a
11	chr10:20017996-20018046	HRCEpiC	kidney:	n/a
12	chr10:20009221-20009271	A549	lung:	n/a
13	chr10:20017996-20018046	PFSK-1	brain:	n/a
14	chr10:20023014-20023064	HAEpiC	amniotic membrane:	n/a
15	chr10:19993393-19993443	CMK	blood:	n/a
16	chr10:20017996-20018046	ECC-1	luminal epithelium:	n/a
17	chr10:19993393-19993443	GM06990	blood:	n/a
18	chr10:20009221-20009271	HEEpiC	esophagus:	n/a
19	chr10:19993393-19993443	HCT-116	colon:	n/a
20	chr10:20017996-20018046	PANC-1	pancreas:	n/a
21	chr10:20023014-20023064	SAEC	small airway:	n/a
22	chr10:20009221-20009271	HIPEpiC	eye:	n/a
23	chr10:20023014-20023064	CMK	blood:	n/a
24	chr10:19993393-19993443	HRCEpiC	kidney:	n/a
25	chr10:20019641-20019691	IMR90	lung:	fetal
26	chr10:20019641-20019691	BJ	skin:	n/a
27	chr10:20023014-20023064	AoSMC	blood vessel:	n/a
28	chr10:20019641-20019691	HNPCEpiC	eye:	n/a
29	chr10:20019641-20019691	NB4	blood:	n/a
30	chr10:20017996-20018046	GM12892	blood:	n/a
31	chr10:19993393-19993443	PANC-1	pancreas:	n/a
32	chr10:20019641-20019691	GM19239	blood:	n/a
33	chr10:20019641-20019691	NH-A	brain:	n/a
34	chr10:19993393-19993443	GM12891	blood:	n/a
35	chr10:20019641-20019691	A549	lung:	n/a
36	chr10:20017996-20018046	HRE	kidney:	n/a
37	chr10:19993393-19993443	HEK293	kidney:	embryo
38	chr10:20009221-20009271	GM06990	blood:	n/a
39	chr10:20009221-20009271	HRPEpiC	eye:	n/a
40	chr10:20009221-20009271	Hela-S3	cervix:	n/a
41	chr10:20019641-20019691	K562	blood:	n/a
42	chr10:20023014-20023064	ProgFib	skin:	n/a
43	chr10:20023014-20023064	HepG2	liver:	n/a
44	chr10:19993393-19993443	U87	brain:	n/a
45	chr10:19993393-19993443	NH-A	brain:	n/a
46	chr10:20009221-20009271	K562	blood:	n/a
47	chr10:19993393-19993443	GM12892	blood:	n/a
48	chr10:20023014-20023064	Hela-S3	cervix:	n/a
49	chr10:20017996-20018046	AG04449	skin:	fetal
50	chr10:20023014-20023064	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:114251553..114252290-chr10:19972729..19973619,2	MCF-7	breast:
2	chr10:20020129..20021732-chr10:20034774..20036880,2	MCF-7	breast:
3	chr10:20019487..20021486-chr10:20023021..20025929,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEBL-2	chr10:20017334-20017479	ENSG00000233968.2
2	lnc-NEBL-2	chr10:20011259-20011351	ENSG00000233968.1
3	lnc-NEBL-2	chr10:20005728-20005819	ENSG00000233968.1
4	lnc-NEBL-2	chr10:20017334-20017479	ENSG00000233968.1
5	lnc-C10orf112-1	chr10:19981239-19981290	NONHSAT011665
6	lnc-NEBL-2	chr10:19999257-20000217	ENSG00000233968.1
7	lnc-NEBL-2	chr10:20013856-20013910	ENSG00000233968.2
8	lnc-NEBL-2	chr10:20011043-20011154	ENSG00000233968.1
9	lnc-NEBL-2	chr10:20013856-20013910	ENSG00000233968.1
10	lnc-NEBL-2	chr10:20017334-20017479	ENSG00000233968.1
11	lnc-C10orf112-1	chr10:19981387-19981483	NONHSAT011665
12	lnc-NEBL-2	chr10:20011259-20011351	ENSG00000233968.1
13	lnc-NEBL-2	chr10:20013856-20013910	ENSG00000233968.1
14	lnc-NEBL-2	chr10:20017334-20017479	ENSG00000233968.1
15	lnc-NEBL-2	chr10:20010626-20011154	ENSG00000233968.1
16	lnc-NEBL-2	chr10:20011259-20011351	ENSG00000233968.2
17	lnc-NEBL-2	chr10:20010517-20011154	ENSG00000233968.2
18	lnc-NEBL-2	chr10:20010907-20011154	ENSG00000233968.1
19	lnc-NEBL-2	chr10:20011259-20011517	ENSG00000233968.1

No data

Variant related genes	Relation type
MALRD1	TF binding region
ENSG00000233968	TF binding region
MALRD1	CpG island
ENSG00000233968	CpG island
ENSG00000204740	chromatin interactions
ENSG00000230818	chromatin interactions

Extended variants
information (count: 2582 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:2582 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1326971	chr10:19973096-19973097	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185263786	chr10:19973140-19973141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189970457	chr10:19973154-19973155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557454714	chr10:19973155-19973156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs736243	chr10:19973160-19973161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536404446	chr10:19973193-19973194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564405202	chr10:19973199-19973200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60606377	chr10:19973231-19973232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149568690	chr10:19973239-19973240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs736242	chr10:19973262-19973263	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112534405	chr10:19973303-19973304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565061882	chr10:19973330-19973331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374473126	chr10:19973356-19973357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs746705	chr10:19973384-19973385	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534410453	chr10:19973385-19973386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144268635	chr10:19973436-19973437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148746437	chr10:19973440-19973441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs736241	chr10:19973461-19973462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs943361	chr10:19973513-19973514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113852961	chr10:19973529-19973530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374598659	chr10:19973535-19973536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367986151	chr10:19973536-19973537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370247743	chr10:19973575-19973576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186393090	chr10:19973611-19973612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528704690	chr10:19973617-19973618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547255702	chr10:19973662-19973663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370801881	chr10:19973670-19973671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571981904	chr10:19973671-19973672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191659985	chr10:19973678-19973679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576875113	chr10:19973690-19973691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111641917	chr10:19973718-19973719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532519464	chr10:19973746-19973747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550996956	chr10:19973747-19973748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569333444	chr10:19973757-19973758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536739638	chr10:19973758-19973759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147520848	chr10:19973774-19973775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183432924	chr10:19973834-19973835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533782920	chr10:19973835-19973836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550860255	chr10:19973842-19973843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79319069	chr10:19973869-19973870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576749402	chr10:19973870-19973871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140172755	chr10:19973881-19973882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574572170	chr10:19973886-19973887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367713736	chr10:19973912-19973913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574137622	chr10:19973913-19973914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145690035	chr10:19973930-19973931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188839889	chr10:19973954-19973955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528647948	chr10:19973961-19973962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151121817	chr10:19973978-19973979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201805000	chr10:19974023-19974024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19957200-19974800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19972200-19973200	Enhancers	Fetal Lung	lung
3	chr10:19972200-19973400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:19974800-19975200	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr10:19975200-19983800	Weak transcription	Fetal Intestine Small	intestine
6	chr10:19975800-19986600	Weak transcription	HepG2	liver
7	chr10:19976600-19986000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:19980800-19981600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:19981000-19981600	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr10:19981200-19981600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:19981200-19981600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr10:19981400-19981600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr10:19981600-19984800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:19981600-19984800	Weak transcription	Fetal Intestine Large	intestine
15	chr10:19981600-19986600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:19981600-19986800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:19981600-19987400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:19983800-19986000	Weak transcription	Fetal Stomach	stomach
19	chr10:19983800-19986800	Strong transcription	Fetal Intestine Small	intestine
20	chr10:19984800-19985400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr10:19984800-19988400	Strong transcription	Fetal Intestine Large	intestine
22	chr10:19985400-19987200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:19986800-20000400	Weak transcription	Fetal Intestine Small	intestine
24	chr10:19987200-19989200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr10:19988400-19993200	Weak transcription	Fetal Intestine Large	intestine
26	chr10:19989200-20000400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:19989600-19989800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:19990200-19990400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:19990400-19991800	Enhancers	HSMMtube	muscle
30	chr10:19990800-19991400	Enhancers	NH-A	brain
31	chr10:19990800-19991800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:19990800-19991800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr10:19990800-19991800	Enhancers	NHEK	skin
34	chr10:19990800-19991800	Enhancers	Osteobl	bone
35	chr10:19990800-19992000	Enhancers	HSMM	muscle
36	chr10:19991000-19991400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:19991200-19991400	Enhancers	Aorta	Aorta
38	chr10:19991400-19991800	Weak transcription	NH-A	brain
39	chr10:19991400-19992200	Weak transcription	Aorta	Aorta
40	chr10:19991800-19992000	Enhancers	NH-A	brain
41	chr10:19991800-19993200	Weak transcription	Osteobl	bone
42	chr10:19992000-19992600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:19992000-19993200	Weak transcription	NH-A	brain
44	chr10:19992000-19994200	Weak transcription	HSMM	muscle
45	chr10:19992200-19992400	Enhancers	Aorta	Aorta
46	chr10:19992400-20000600	Weak transcription	Aorta	Aorta
47	chr10:19992600-19993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:19993000-19994600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:19993200-19993400	Enhancers	Osteobl	bone
50	chr10:19993200-19993800	Enhancers	NH-A	brain

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