Variant report

Variant	nsv516123
Chromosome Location	chr10:19320793-19344979
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	CCNT2	chr10:19334732-19334932	K562	blood:	n/a	n/a
2	CEBPB	chr10:19324305-19324622	A549	lung:	n/a	chr10:19324446-19324457
3	CEBPB	chr10:19343258-19343579	IMR90	lung:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
4	CEBPB	chr10:19335365-19335448	K562	blood:	n/a	chr10:19335427-19335438
5	CEBPB	chr10:19335289-19335587	HepG2	liver:	n/a	chr10:19335427-19335438
6	CEBPB	chr10:19324306-19324620	IMR90	lung:	n/a	chr10:19324446-19324457
7	CEBPB	chr10:19343269-19343582	HepG2	liver:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
8	CEBPB	chr10:19343290-19343513	Hela-S3	cervix:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
9	CEBPB	chr10:19343267-19343547	K562	blood:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
10	CEBPB	chr10:19343272-19343589	A549	lung:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
11	CEBPB	chr10:19343278-19343480	H1-hESC	embryonic stem cell:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
12	CEBPB	chr10:19335311-19335542	IMR90	lung:	n/a	chr10:19335427-19335438
13	CEBPB	chr10:19335265-19335609	A549	lung:	n/a	chr10:19335427-19335438
14	CEBPB	chr10:19324305-19324617	HepG2	liver:	n/a	chr10:19324446-19324457
15	CTCF	chr10:19332054-19332114	Fibrobl	skin:	n/a	n/a
16	CTCF	chr10:19341933-19341971	GM13976	blood:	n/a	n/a
17	E2F4	chr10:19326866-19327107	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr10:19334559-19334889	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr10:19344617-19344817	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr10:19332363-19332685	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr10:19320502-19320809	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr10:19332375-19332651	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA2	chr10:19320050-19321071	SH-SY5Y	brain:	n/a	chr10:19320516-19320537
24	GATA2	chr10:19327472-19327768	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr10:19329839-19330075	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr10:19327389-19327825	MCF-7	breast:	n/a	chr10:19327610-19327618
27	GATA3	chr10:19321199-19321283	SH-SY5Y	brain:	n/a	n/a
28	JUND	chr10:19338469-19338748	HepG2	liver:	n/a	chr10:19338622-19338629 chr10:19338619-19338630 chr10:19338621-19338630 chr10:19338619-19338631 chr10:19338620-19338630 chr10:19338620-19338629 chr10:19338621-19338629
29	MAFK	chr10:19336447-19336458	HepG2	liver:	n/a	n/a
30	NFYB	chr10:19337475-19337675	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:19321379-19321405	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr10:19337788-19338209	H1-neurons	neurons:	n/a	n/a
33	SIN3AK20	chr10:19327446-19327934	MCF-7	breast:	n/a	n/a
34	STAT3	chr10:19320823-19320889	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr10:19328685-19328709	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF7L2	chr10:19337390-19338003	HEK293	kidney:	n/a	chr10:19337689-19337696
37	USF1	chr10:19327404-19327722	H1-hESC	embryonic stem cell:	n/a	n/a
38	USF1	chr10:19327507-19327719	H1-hESC	embryonic stem cell:	n/a	n/a
39	USF2	chr10:19327547-19327716	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf112-2	chr10:19340885-19341099	NONHSAT011658
2	lnc-C10orf112-2	chr10:19340384-19340566	NONHSAT011658

Variant related genes	Relation type
UBE2V2P1	TF binding region

Extended variants
information (count: 1046 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1046 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10508573	chr10:19320793-19320794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569734264	chr10:19320797-19320798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537310990	chr10:19320812-19320813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549248665	chr10:19320818-19320819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567978979	chr10:19320831-19320832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372313980	chr10:19320833-19320834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372968346	chr10:19320844-19320845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10740828	chr10:19320865-19320866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373713520	chr10:19320887-19320888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190614681	chr10:19320900-19320901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571217243	chr10:19320914-19320915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144594103	chr10:19320920-19320921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556969411	chr10:19320940-19320941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138553298	chr10:19320941-19320942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542680079	chr10:19320953-19320954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141628240	chr10:19320979-19320980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573131805	chr10:19321065-19321066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181824220	chr10:19321076-19321077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148021190	chr10:19321086-19321087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533222038	chr10:19321097-19321098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568266059	chr10:19321098-19321099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186894141	chr10:19321107-19321108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7079204	chr10:19321154-19321155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7090989	chr10:19321162-19321163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377688908	chr10:19321199-19321200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188727614	chr10:19322240-19322241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145263625	chr10:19322253-19322254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556546747	chr10:19322274-19322275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540298728	chr10:19322287-19322288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74118663	chr10:19322297-19322298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574640487	chr10:19322389-19322390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535657972	chr10:19322437-19322438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12246233	chr10:19322460-19322461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151307642	chr10:19322463-19322464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572469317	chr10:19322465-19322466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191387786	chr10:19322476-19322477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562729211	chr10:19322481-19322482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566471792	chr10:19322486-19322487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372299858	chr10:19322511-19322512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533060429	chr10:19322512-19322513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182707615	chr10:19322569-19322570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2789308	chr10:19322574-19322575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537753191	chr10:19322579-19322580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554403679	chr10:19322588-19322589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574593405	chr10:19322590-19322591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535327980	chr10:19322603-19322604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527281343	chr10:19322618-19322619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187122918	chr10:19322621-19322622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573304869	chr10:19322631-19322632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191605593	chr10:19322641-19322642	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	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	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19319800-19321200	Enhancers	Fetal Heart	heart
2	chr10:19320200-19321200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:19322200-19323600	Enhancers	Fetal Intestine Large	intestine
4	chr10:19322600-19323600	Enhancers	Fetal Intestine Small	intestine
5	chr10:19323600-19335400	Weak transcription	Fetal Intestine Small	intestine
6	chr10:19331800-19332200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:19331800-19333000	Enhancers	Fetal Intestine Large	intestine
8	chr10:19332200-19333200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:19333000-19335800	Weak transcription	Fetal Intestine Large	intestine
10	chr10:19333200-19333400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:19335400-19335800	Enhancers	Fetal Intestine Small	intestine
12	chr10:19335400-19341400	Active TSS	Duodenum Mucosa	Duodenum
13	chr10:19335600-19336000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr10:19335600-19336200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr10:19335800-19340200	Active TSS	Fetal Intestine Small	intestine
16	chr10:19335800-19340400	Active TSS	Fetal Intestine Large	intestine
17	chr10:19336000-19336200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr10:19336000-19337800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:19336200-19337800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr10:19336400-19337400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr10:19337200-19338000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:19337400-19338200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr10:19337400-19338400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:19337800-19338200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:19337800-19338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:19337800-19338200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr10:19337800-19338800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr10:19337800-19340000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr10:19338000-19338400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:19338400-19338800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:19338400-19341600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:19340200-19340400	Enhancers	Fetal Intestine Small	intestine
33	chr10:19340400-19341400	Enhancers	Fetal Intestine Large	intestine
34	chr10:19340400-19342400	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr10:19341400-19341600	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr10:19341400-19342000	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr10:19341600-19341800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:19341600-19341800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
39	chr10:19341600-19342000	Enhancers	Spleen	Spleen
40	chr10:19341800-19342000	Genic enhancers	Fetal Intestine Large	intestine
41	chr10:19341800-19342200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:19342000-19342200	Active TSS	Duodenum Mucosa	Duodenum
43	chr10:19342000-19342600	Strong transcription	Fetal Intestine Large	intestine
44	chr10:19342200-19342400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr10:19342200-19342600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:19342400-19343800	Active TSS	Duodenum Mucosa	Duodenum
47	chr10:19342400-19344600	Weak transcription	Fetal Intestine Small	intestine
48	chr10:19342600-19343400	Weak transcription	Fetal Intestine Large	intestine
49	chr10:19343400-19343800	Active TSS	Fetal Intestine Large	intestine
50	chr10:19343800-19344000	Weak transcription	Fetal Intestine Large	intestine

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