Variant report

Variant	nsv894923
Chromosome Location	chr10:19587993-19683943
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	chr10:19674771-19675173	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:19603428-19603923	HepG2	liver:	n/a	n/a
3	BACH1	chr10:19591069-19591317	K562	blood:	n/a	n/a
4	BACH1	chr10:19590996-19591316	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr10:19676411-19676542	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr10:19617522-19618040	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
7	CEBPB	chr10:19617569-19617929	HepG2	liver:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
8	CEBPB	chr10:19593499-19593740	HepG2	liver:	n/a	n/a
9	CEBPB	chr10:19625503-19625733	HepG2	liver:	n/a	chr10:19625623-19625634
10	CEBPB	chr10:19589028-19589280	HepG2	liver:	n/a	n/a
11	CEBPB	chr10:19621253-19621585	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
12	CEBPB	chr10:19621201-19621687	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
13	CEBPB	chr10:19621255-19621616	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
14	CEBPB	chr10:19621286-19621558	H1-hESC	embryonic stem cell:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
15	CEBPB	chr10:19630705-19631211	Hela-S3	cervix:	n/a	chr10:19631083-19631092 chr10:19631083-19631092
16	CEBPB	chr10:19621251-19621616	Hela-S3	cervix:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
17	CEBPB	chr10:19589005-19589242	IMR90	lung:	n/a	n/a
18	CEBPB	chr10:19621212-19621668	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
19	CEBPB	chr10:19648171-19648434	HepG2	liver:	n/a	chr10:19648298-19648311 chr10:19648299-19648310
20	CEBPB	chr10:19621246-19621602	K562	blood:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
21	CEBPB	chr10:19674771-19675146	HepG2	liver:	n/a	chr10:19674953-19674964
22	CEBPB	chr10:19621239-19621618	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
23	CEBPB	chr10:19674826-19675024	HepG2	liver:	n/a	chr10:19674953-19674964
24	CEBPB	chr10:19621243-19621575	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
25	CEBPB	chr10:19617562-19617902	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
26	CEBPB	chr10:19617015-19617159	IMR90	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
27	CEBPB	chr10:19621307-19621498	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
28	CEBPB	chr10:19653229-19653328	IMR90	lung:	n/a	chr10:19653266-19653279 chr10:19653266-19653279 chr10:19653268-19653279 chr10:19653266-19653279 chr10:19653268-19653279
29	CEBPB	chr10:19617567-19617931	IMR90	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
30	CEBPB	chr10:19617025-19617162	A549	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
31	CEBPB	chr10:19621245-19621611	IMR90	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
32	CEBPB	chr10:19617601-19617911	A549	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
33	CEBPB	chr10:19616929-19617199	HepG2	liver:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
34	CEBPB	chr10:19617597-19617861	H1-hESC	embryonic stem cell:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
35	CEBPB	chr10:19617561-19617954	Hela-S3	cervix:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
36	CEBPB	chr10:19621293-19621574	ECC-1	luminal epithelium:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
37	CEBPZ	chr10:19641658-19641670	HepG2	liver:	n/a	n/a
38	CTCF	chr10:19636715-19636798	MCF-7	breast:	n/a	n/a
39	CTCF	chr10:19636680-19636830	HAc	cerebellar:	n/a	n/a
40	CTCF	chr10:19636680-19636830	BE2_C	brain:	n/a	n/a
41	CTCF	chr10:19636580-19636730	AG10803	skin:	n/a	n/a
42	CTCF	chr10:19636640-19636790	BE2_C	brain:	n/a	n/a
43	CTCF	chr10:19636640-19636790	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr10:19636641-19636811	MCF-7	breast:	n/a	n/a
45	CTCF	chr10:19636640-19636790	HMEC	breast:	n/a	n/a
46	CTCF	chr10:19636620-19636770	HMF	breast:	n/a	n/a
47	CTCF	chr10:19636620-19636770	HPF	lung:	n/a	n/a
48	CTCF	chr10:19636644-19636775	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr10:19636580-19636730	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr10:19636600-19636750	HCM	heart:	n/a	n/a

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

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 4221 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:4221 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2496050	chr10:19587993-19587994	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550558310	chr10:19588000-19588001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182305519	chr10:19588057-19588058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185322048	chr10:19588078-19588079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375550914	chr10:19588084-19588085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188968967	chr10:19588108-19588109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530855419	chr10:19588156-19588157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545141472	chr10:19588179-19588180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553269152	chr10:19588180-19588181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145730707	chr10:19588218-19588219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138680163	chr10:19588271-19588272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570402646	chr10:19588364-19588365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181364096	chr10:19588386-19588387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374588757	chr10:19588416-19588417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549542497	chr10:19588455-19588456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369962491	chr10:19588475-19588476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572897135	chr10:19588493-19588494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140597159	chr10:19588509-19588510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369879816	chr10:19588513-19588514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71507278	chr10:19588516-19588517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554958133	chr10:19588545-19588546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141154210	chr10:19588568-19588569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373294647	chr10:19588602-19588603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534196101	chr10:19588649-19588650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117564261	chr10:19588679-19588680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577599028	chr10:19588680-19588681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146955168	chr10:19588732-19588733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563046346	chr10:19588759-19588760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574493632	chr10:19588762-19588763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541511661	chr10:19588883-19588884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372895411	chr10:19588900-19588901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149498033	chr10:19588925-19588926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539368702	chr10:19588945-19588946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144048495	chr10:19588967-19588968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185548985	chr10:19589018-19589019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564067562	chr10:19589029-19589030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370339412	chr10:19589057-19589058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189970845	chr10:19589067-19589068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148264694	chr10:19589077-19589078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377376516	chr10:19589102-19589103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72782342	chr10:19589123-19589124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561227534	chr10:19589162-19589163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548441265	chr10:19589169-19589170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566948714	chr10:19589216-19589217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181012429	chr10:19589225-19589226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528255254	chr10:19589232-19589233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558972189	chr10:19589259-19589260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185991351	chr10:19589276-19589277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546355430	chr10:19589291-19589292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538507273	chr10:19589292-19589293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19587000-19589000	Strong transcription	Fetal Intestine Large	intestine
3	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:19588800-19590400	Weak transcription	NH-A	brain
5	chr10:19589000-19608400	Weak transcription	Fetal Intestine Large	intestine
6	chr10:19590400-19591600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr10:19590400-19591600	Enhancers	HMEC	breast
8	chr10:19590400-19591600	Enhancers	NHEK	skin
9	chr10:19590400-19591600	Enhancers	Osteobl	bone
10	chr10:19590400-19591800	Enhancers	NH-A	brain
11	chr10:19590800-19591200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:19591000-19591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:19591800-19593800	Weak transcription	NH-A	brain
14	chr10:19593800-19594600	Enhancers	NH-A	brain
15	chr10:19594600-19598600	Weak transcription	NH-A	brain
16	chr10:19596200-19603600	Weak transcription	HepG2	liver
17	chr10:19598600-19599600	Enhancers	NH-A	brain
18	chr10:19598800-19599800	Enhancers	Osteobl	bone
19	chr10:19599000-19599400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:19599200-19599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr10:19600800-19601200	Enhancers	Fetal Heart	heart
22	chr10:19608400-19608800	Strong transcription	Fetal Intestine Large	intestine
23	chr10:19608800-19621800	Weak transcription	Fetal Intestine Large	intestine
24	chr10:19612400-19614800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:19614400-19615200	Enhancers	NHEK	skin
26	chr10:19614800-19615000	Enhancers	Duodenum Mucosa	Duodenum
27	chr10:19615000-19657000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:19618600-19619000	Enhancers	HepG2	liver
29	chr10:19619000-19639400	Weak transcription	HepG2	liver
30	chr10:19621800-19622600	Strong transcription	Fetal Intestine Large	intestine
31	chr10:19622600-19635800	Weak transcription	Fetal Intestine Large	intestine
32	chr10:19635800-19638200	Strong transcription	Fetal Intestine Large	intestine
33	chr10:19637800-19638200	Strong transcription	Fetal Intestine Small	intestine
34	chr10:19638200-19639000	Weak transcription	Fetal Intestine Small	intestine
35	chr10:19638200-19642000	Weak transcription	Fetal Intestine Large	intestine
36	chr10:19639000-19639800	Strong transcription	Fetal Intestine Small	intestine
37	chr10:19639800-19661600	Weak transcription	Fetal Intestine Small	intestine
38	chr10:19642000-19642600	Strong transcription	Fetal Intestine Large	intestine
39	chr10:19642600-19657600	Weak transcription	Fetal Intestine Large	intestine
40	chr10:19647200-19647600	Enhancers	Fetal Lung	lung
41	chr10:19650000-19652200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:19657600-19658000	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr10:19658000-19674000	Weak transcription	Fetal Intestine Large	intestine
44	chr10:19661600-19662600	Strong transcription	Fetal Intestine Small	intestine
45	chr10:19662400-19663800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr10:19662400-19664000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:19662600-19663600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr10:19662600-19663800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr10:19662600-19663800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr10:19662600-19678400	Weak transcription	Fetal Intestine Small	intestine

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