Variant report

Variant	nsv894924
Chromosome Location	chr10:19593301-19693587
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	ARID3A	chr10:19603428-19603923	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:19674771-19675173	HepG2	liver:	n/a	n/a
3	BRCA1	chr10:19676411-19676542	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr10:19621239-19621618	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
5	CEBPB	chr10:19621243-19621575	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
6	CEBPB	chr10:19621253-19621585	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
7	CEBPB	chr10:19617562-19617902	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
8	CEBPB	chr10:19621255-19621616	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
9	CEBPB	chr10:19621245-19621611	IMR90	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
10	CEBPB	chr10:19621251-19621616	Hela-S3	cervix:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
11	CEBPB	chr10:19617601-19617911	A549	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
12	CEBPB	chr10:19617569-19617929	HepG2	liver:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
13	CEBPB	chr10:19617567-19617931	IMR90	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
14	CEBPB	chr10:19653229-19653328	IMR90	lung:	n/a	chr10:19653266-19653279 chr10:19653266-19653279 chr10:19653268-19653279 chr10:19653266-19653279 chr10:19653268-19653279
15	CEBPB	chr10:19630705-19631211	Hela-S3	cervix:	n/a	chr10:19631083-19631092 chr10:19631083-19631092
16	CEBPB	chr10:19621212-19621668	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
17	CEBPB	chr10:19674771-19675146	HepG2	liver:	n/a	chr10:19674953-19674964
18	CEBPB	chr10:19617522-19618040	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
19	CEBPB	chr10:19674826-19675024	HepG2	liver:	n/a	chr10:19674953-19674964
20	CEBPB	chr10:19593499-19593740	HepG2	liver:	n/a	n/a
21	CEBPB	chr10:19685091-19685283	HepG2	liver:	n/a	chr10:19685122-19685133
22	CEBPB	chr10:19621307-19621498	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
23	CEBPB	chr10:19616929-19617199	HepG2	liver:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
24	CEBPB	chr10:19617561-19617954	Hela-S3	cervix:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
25	CEBPB	chr10:19621286-19621558	H1-hESC	embryonic stem cell:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
26	CEBPB	chr10:19617025-19617162	A549	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
27	CEBPB	chr10:19617597-19617861	H1-hESC	embryonic stem cell:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
28	CEBPB	chr10:19625503-19625733	HepG2	liver:	n/a	chr10:19625623-19625634
29	CEBPB	chr10:19648171-19648434	HepG2	liver:	n/a	chr10:19648298-19648311 chr10:19648299-19648310
30	CEBPB	chr10:19617015-19617159	IMR90	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
31	CEBPB	chr10:19621201-19621687	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
32	CEBPB	chr10:19621293-19621574	ECC-1	luminal epithelium:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
33	CEBPB	chr10:19621246-19621602	K562	blood:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
34	CEBPZ	chr10:19641658-19641670	HepG2	liver:	n/a	n/a
35	CTCF	chr10:19636668-19636768	Lung_OC	lung:	n/a	n/a
36	CTCF	chr10:19636580-19636730	AG10803	skin:	n/a	n/a
37	CTCF	chr10:19636696-19636803	NHEK	skin:	n/a	n/a
38	CTCF	chr10:19636640-19636790	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr10:19636620-19636770	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr10:19636680-19636830	RPTEC	kidney:	n/a	n/a
41	CTCF	chr10:19636697-19636730	GM13976	blood:	n/a	n/a
42	CTCF	chr10:19636580-19636730	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr10:19636640-19636790	HEK293	kidney:	n/a	n/a
44	CTCF	chr10:19636579-19636870	GM12878	blood:	n/a	n/a
45	CTCF	chr10:19636600-19636750	HVMF	connective:	n/a	n/a
46	CTCF	chr10:19636640-19636790	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr10:19636640-19636790	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr10:19636644-19636775	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr10:19636620-19636770	SAEC	small airway:	n/a	n/a
50	CTCF	chr10:19636660-19636810	HFF-Myc	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:19623502..19625941-chr10:19631040..19633191,2	K562	blood:
2	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:
3	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
4	chr10:19623502..19625941-chr10:19631040..19633191,2	K562	blood:
5	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
6	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
7	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
8	chr10:19610336..19613284-chr14:35868183..35870740,2	MCF-7	breast:
9	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 4420 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:4420 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12221388	chr10:19593301-19593302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138578142	chr10:19593334-19593335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557499348	chr10:19593381-19593382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569112196	chr10:19593580-19593581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539703742	chr10:19593587-19593588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553232060	chr10:19593607-19593608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78724941	chr10:19593612-19593613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79385911	chr10:19593653-19593654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572897818	chr10:19593702-19593703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530009327	chr10:19593755-19593756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548226347	chr10:19593768-19593769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566424879	chr10:19593802-19593803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141785638	chr10:19593841-19593842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77785281	chr10:19593894-19593895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551922650	chr10:19593909-19593910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191863487	chr10:19593935-19593936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534234215	chr10:19593966-19593967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555494632	chr10:19594037-19594038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111944050	chr10:19594063-19594064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183314584	chr10:19594071-19594072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536648532	chr10:19594072-19594073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11009377	chr10:19594078-19594079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574887014	chr10:19594101-19594102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573562597	chr10:19594109-19594110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540844915	chr10:19594116-19594117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368405620	chr10:19594187-19594188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138166174	chr10:19594190-19594191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562634699	chr10:19594209-19594210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562592600	chr10:19594246-19594247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142713425	chr10:19594249-19594250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528080625	chr10:19594277-19594278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186609332	chr10:19594291-19594292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144964282	chr10:19594322-19594323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2484096	chr10:19594381-19594382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541796999	chr10:19594389-19594390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144237261	chr10:19594443-19594444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376432443	chr10:19594455-19594456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531524957	chr10:19594460-19594461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56037800	chr10:19594544-19594545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561828574	chr10:19594600-19594601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191107851	chr10:19594611-19594612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536284431	chr10:19594618-19594619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201069367	chr10:19594735-19594736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34036364	chr10:19594791-19594792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575677574	chr10:19594806-19594807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546556325	chr10:19594822-19594823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554915269	chr10:19594823-19594824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567193925	chr10:19594830-19594831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534447562	chr10:19594831-19594832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11009379	chr10:19594866-19594867	Weak transcription	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
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:19589000-19608400	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19591800-19593800	Weak transcription	NH-A	brain
5	chr10:19593800-19594600	Enhancers	NH-A	brain
6	chr10:19594600-19598600	Weak transcription	NH-A	brain
7	chr10:19596200-19603600	Weak transcription	HepG2	liver
8	chr10:19598600-19599600	Enhancers	NH-A	brain
9	chr10:19598800-19599800	Enhancers	Osteobl	bone
10	chr10:19599000-19599400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:19599200-19599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr10:19600800-19601200	Enhancers	Fetal Heart	heart
13	chr10:19608400-19608800	Strong transcription	Fetal Intestine Large	intestine
14	chr10:19608800-19621800	Weak transcription	Fetal Intestine Large	intestine
15	chr10:19612400-19614800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:19614400-19615200	Enhancers	NHEK	skin
17	chr10:19614800-19615000	Enhancers	Duodenum Mucosa	Duodenum
18	chr10:19615000-19657000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:19618600-19619000	Enhancers	HepG2	liver
20	chr10:19619000-19639400	Weak transcription	HepG2	liver
21	chr10:19621800-19622600	Strong transcription	Fetal Intestine Large	intestine
22	chr10:19622600-19635800	Weak transcription	Fetal Intestine Large	intestine
23	chr10:19635800-19638200	Strong transcription	Fetal Intestine Large	intestine
24	chr10:19637800-19638200	Strong transcription	Fetal Intestine Small	intestine
25	chr10:19638200-19639000	Weak transcription	Fetal Intestine Small	intestine
26	chr10:19638200-19642000	Weak transcription	Fetal Intestine Large	intestine
27	chr10:19639000-19639800	Strong transcription	Fetal Intestine Small	intestine
28	chr10:19639800-19661600	Weak transcription	Fetal Intestine Small	intestine
29	chr10:19642000-19642600	Strong transcription	Fetal Intestine Large	intestine
30	chr10:19642600-19657600	Weak transcription	Fetal Intestine Large	intestine
31	chr10:19647200-19647600	Enhancers	Fetal Lung	lung
32	chr10:19650000-19652200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:19657600-19658000	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr10:19658000-19674000	Weak transcription	Fetal Intestine Large	intestine
35	chr10:19661600-19662600	Strong transcription	Fetal Intestine Small	intestine
36	chr10:19662400-19663800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:19662400-19664000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr10:19662600-19663600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr10:19662600-19663800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr10:19662600-19663800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:19662600-19678400	Weak transcription	Fetal Intestine Small	intestine
42	chr10:19662800-19663400	Enhancers	Brain Germinal Matrix	brain
43	chr10:19674000-19674200	Enhancers	Liver	Liver
44	chr10:19674000-19675800	Enhancers	Fetal Intestine Large	intestine
45	chr10:19674000-19675800	Enhancers	HepG2	liver
46	chr10:19674200-19674400	Flanking Active TSS	Liver	Liver
47	chr10:19674400-19674600	Active TSS	Liver	Liver
48	chr10:19674600-19676000	Enhancers	Liver	Liver
49	chr10:19675000-19675200	Active TSS	Duodenum Mucosa	Duodenum
50	chr10:19675200-19676800	Weak transcription	Duodenum Mucosa	Duodenum

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