Variant report

Variant	nsv894925
Chromosome Location	chr10:19596177-19695260
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	BRCA1	chr10:19676411-19676542	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr10:19621251-19621616	Hela-S3	cervix:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
5	CEBPB	chr10:19621239-19621618	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
6	CEBPB	chr10:19617597-19617861	H1-hESC	embryonic stem cell:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
7	CEBPB	chr10:19625503-19625733	HepG2	liver:	n/a	chr10:19625623-19625634
8	CEBPB	chr10:19621243-19621575	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
9	CEBPB	chr10:19630705-19631211	Hela-S3	cervix:	n/a	chr10:19631083-19631092 chr10:19631083-19631092
10	CEBPB	chr10:19617561-19617954	Hela-S3	cervix:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
11	CEBPB	chr10:19685091-19685283	HepG2	liver:	n/a	chr10:19685122-19685133
12	CEBPB	chr10:19621245-19621611	IMR90	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
13	CEBPB	chr10:19617562-19617902	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
14	CEBPB	chr10:19621253-19621585	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
15	CEBPB	chr10:19674826-19675024	HepG2	liver:	n/a	chr10:19674953-19674964
16	CEBPB	chr10:19653229-19653328	IMR90	lung:	n/a	chr10:19653266-19653279 chr10:19653266-19653279 chr10:19653268-19653279 chr10:19653266-19653279 chr10:19653268-19653279
17	CEBPB	chr10:19621201-19621687	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
18	CEBPB	chr10:19648171-19648434	HepG2	liver:	n/a	chr10:19648298-19648311 chr10:19648299-19648310
19	CEBPB	chr10:19621246-19621602	K562	blood:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
20	CEBPB	chr10:19617567-19617931	IMR90	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
21	CEBPB	chr10:19617025-19617162	A549	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
22	CEBPB	chr10:19621286-19621558	H1-hESC	embryonic stem cell:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
23	CEBPB	chr10:19621255-19621616	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
24	CEBPB	chr10:19617601-19617911	A549	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
25	CEBPB	chr10:19674771-19675146	HepG2	liver:	n/a	chr10:19674953-19674964
26	CEBPB	chr10:19621293-19621574	ECC-1	luminal epithelium:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
27	CEBPB	chr10:19621307-19621498	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
28	CEBPB	chr10:19617015-19617159	IMR90	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
29	CEBPB	chr10:19621212-19621668	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
30	CEBPB	chr10:19616929-19617199	HepG2	liver:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
31	CEBPB	chr10:19617522-19618040	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
32	CEBPB	chr10:19617569-19617929	HepG2	liver:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
33	CEBPZ	chr10:19641658-19641670	HepG2	liver:	n/a	n/a
34	CTCF	chr10:19636544-19636861	IMR90	lung:	n/a	n/a
35	CTCF	chr10:19636580-19636730	GM12874	blood:	n/a	n/a
36	CTCF	chr10:19636616-19636788	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr10:19636617-19636805	LNCaP	prostate:	n/a	n/a
38	CTCF	chr10:19636660-19636810	SAEC	small airway:	n/a	n/a
39	CTCF	chr10:19636580-19636730	HCFaa	heart:	n/a	n/a
40	CTCF	chr10:19636610-19636843	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:19636715-19636798	MCF-7	breast:	n/a	n/a
42	CTCF	chr10:19636660-19636810	AG09319	gingival:	n/a	n/a
43	CTCF	chr10:19636660-19636810	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr10:19636580-19636730	AG10803	skin:	n/a	n/a
45	CTCF	chr10:19636431-19637040	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr10:19636600-19636750	Caco-2	colon:	n/a	n/a
47	CTCF	chr10:19636696-19636803	NHEK	skin:	n/a	n/a
48	CTCF	chr10:19636640-19636790	RPTEC	kidney:	n/a	n/a
49	CTCF	chr10:19636620-19636770	HCM	heart:	n/a	n/a
50	CTCF	chr10:19636640-19636790	Hela-S3	cervix:	n/a	n/a

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

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 4357 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:4357 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2496096	chr10:19596177-19596178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529479989	chr10:19596181-19596182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547551944	chr10:19596215-19596216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565459413	chr10:19596237-19596238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560402920	chr10:19596260-19596261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539100653	chr10:19596265-19596266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557476630	chr10:19596290-19596291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569673925	chr10:19596319-19596320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536638714	chr10:19596347-19596348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555660959	chr10:19596360-19596361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149869284	chr10:19596373-19596374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541241523	chr10:19596381-19596382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144905990	chr10:19596390-19596391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530509894	chr10:19596392-19596393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11009391	chr10:19596431-19596432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs564423086	chr10:19596452-19596453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138030720	chr10:19596468-19596469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531762680	chr10:19596501-19596502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182108874	chr10:19596505-19596506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75710796	chr10:19596518-19596519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149041111	chr10:19596582-19596583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547588263	chr10:19596706-19596707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186654664	chr10:19596716-19596717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191609833	chr10:19596745-19596746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544025433	chr10:19596758-19596759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200516698	chr10:19596777-19596778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1582063	chr10:19596783-19596784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1582062	chr10:19596801-19596802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555026806	chr10:19596831-19596832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143072106	chr10:19596838-19596839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11009394	chr10:19596863-19596864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549460969	chr10:19596874-19596875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553297772	chr10:19596878-19596879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564665986	chr10:19596879-19596880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563718553	chr10:19596893-19596894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577960977	chr10:19596904-19596905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182489578	chr10:19596910-19596911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185302690	chr10:19596911-19596912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576425504	chr10:19596912-19596913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151180585	chr10:19596936-19596937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561700447	chr10:19596977-19596978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189728803	chr10:19596996-19596997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541365556	chr10:19597010-19597011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559615628	chr10:19597012-19597013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532536832	chr10:19597016-19597017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564870782	chr10:19597018-19597019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77447976	chr10:19597025-19597026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544061672	chr10:19597039-19597040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551666387	chr10:19597052-19597053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563410643	chr10:19597055-19597056	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:68 , 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	chr10:19594600-19598600	Weak transcription	NH-A	brain
5	chr10:19596200-19603600	Weak transcription	HepG2	liver
6	chr10:19598600-19599600	Enhancers	NH-A	brain
7	chr10:19598800-19599800	Enhancers	Osteobl	bone
8	chr10:19599000-19599400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr10:19599200-19599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr10:19600800-19601200	Enhancers	Fetal Heart	heart
11	chr10:19608400-19608800	Strong transcription	Fetal Intestine Large	intestine
12	chr10:19608800-19621800	Weak transcription	Fetal Intestine Large	intestine
13	chr10:19612400-19614800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:19614400-19615200	Enhancers	NHEK	skin
15	chr10:19614800-19615000	Enhancers	Duodenum Mucosa	Duodenum
16	chr10:19615000-19657000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:19618600-19619000	Enhancers	HepG2	liver
18	chr10:19619000-19639400	Weak transcription	HepG2	liver
19	chr10:19621800-19622600	Strong transcription	Fetal Intestine Large	intestine
20	chr10:19622600-19635800	Weak transcription	Fetal Intestine Large	intestine
21	chr10:19635800-19638200	Strong transcription	Fetal Intestine Large	intestine
22	chr10:19637800-19638200	Strong transcription	Fetal Intestine Small	intestine
23	chr10:19638200-19639000	Weak transcription	Fetal Intestine Small	intestine
24	chr10:19638200-19642000	Weak transcription	Fetal Intestine Large	intestine
25	chr10:19639000-19639800	Strong transcription	Fetal Intestine Small	intestine
26	chr10:19639800-19661600	Weak transcription	Fetal Intestine Small	intestine
27	chr10:19642000-19642600	Strong transcription	Fetal Intestine Large	intestine
28	chr10:19642600-19657600	Weak transcription	Fetal Intestine Large	intestine
29	chr10:19647200-19647600	Enhancers	Fetal Lung	lung
30	chr10:19650000-19652200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:19657600-19658000	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr10:19658000-19674000	Weak transcription	Fetal Intestine Large	intestine
33	chr10:19661600-19662600	Strong transcription	Fetal Intestine Small	intestine
34	chr10:19662400-19663800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr10:19662400-19664000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr10:19662600-19663600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr10:19662600-19663800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr10:19662600-19663800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr10:19662600-19678400	Weak transcription	Fetal Intestine Small	intestine
40	chr10:19662800-19663400	Enhancers	Brain Germinal Matrix	brain
41	chr10:19674000-19674200	Enhancers	Liver	Liver
42	chr10:19674000-19675800	Enhancers	Fetal Intestine Large	intestine
43	chr10:19674000-19675800	Enhancers	HepG2	liver
44	chr10:19674200-19674400	Flanking Active TSS	Liver	Liver
45	chr10:19674400-19674600	Active TSS	Liver	Liver
46	chr10:19674600-19676000	Enhancers	Liver	Liver
47	chr10:19675000-19675200	Active TSS	Duodenum Mucosa	Duodenum
48	chr10:19675200-19676800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr10:19675800-19676600	Weak transcription	Fetal Intestine Large	intestine
50	chr10:19675800-19680800	Weak transcription	HepG2	liver

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