Variant report

Variant	nsv894928
Chromosome Location	chr10:19620439-19695260
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	BRCA1	chr10:19676411-19676542	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr10:19674826-19675024	HepG2	liver:	n/a	chr10:19674953-19674964
4	CEBPB	chr10:19621201-19621687	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
5	CEBPB	chr10:19621293-19621574	ECC-1	luminal epithelium:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
6	CEBPB	chr10:19621245-19621611	IMR90	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
7	CEBPB	chr10:19653229-19653328	IMR90	lung:	n/a	chr10:19653266-19653279 chr10:19653266-19653279 chr10:19653268-19653279 chr10:19653266-19653279 chr10:19653268-19653279
8	CEBPB	chr10:19621255-19621616	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
9	CEBPB	chr10:19621246-19621602	K562	blood:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
10	CEBPB	chr10:19621253-19621585	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
11	CEBPB	chr10:19621251-19621616	Hela-S3	cervix:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
12	CEBPB	chr10:19621286-19621558	H1-hESC	embryonic stem cell:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
13	CEBPB	chr10:19674771-19675146	HepG2	liver:	n/a	chr10:19674953-19674964
14	CEBPB	chr10:19621239-19621618	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
15	CEBPB	chr10:19621307-19621498	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
16	CEBPB	chr10:19685091-19685283	HepG2	liver:	n/a	chr10:19685122-19685133
17	CEBPB	chr10:19621212-19621668	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
18	CEBPB	chr10:19630705-19631211	Hela-S3	cervix:	n/a	chr10:19631083-19631092 chr10:19631083-19631092
19	CEBPB	chr10:19648171-19648434	HepG2	liver:	n/a	chr10:19648298-19648311 chr10:19648299-19648310
20	CEBPB	chr10:19625503-19625733	HepG2	liver:	n/a	chr10:19625623-19625634
21	CEBPB	chr10:19621243-19621575	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
22	CEBPZ	chr10:19641658-19641670	HepG2	liver:	n/a	n/a
23	CTCF	chr10:19636640-19636790	BE2_C	brain:	n/a	n/a
24	CTCF	chr10:19636680-19636830	AG04450	lung:	n/a	n/a
25	CTCF	chr10:19636560-19636710	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr10:19636680-19636830	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr10:19636640-19636790	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr10:19636640-19636790	GM12869	blood:	n/a	n/a
29	CTCF	chr10:19636640-19636790	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr10:19636640-19636790	NHEK	skin:	n/a	n/a
31	CTCF	chr10:19636640-19636790	HPF	lung:	n/a	n/a
32	CTCF	chr10:19636620-19636770	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr10:19636600-19636750	Caco-2	colon:	n/a	n/a
34	CTCF	chr10:19636620-19636770	GM12878	blood:	n/a	n/a
35	CTCF	chr10:19636525-19636844	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr10:19636600-19636750	HVMF	connective:	n/a	n/a
37	CTCF	chr10:19636600-19636750	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr10:19636660-19636810	MCF-7	breast:	n/a	n/a
39	CTCF	chr10:19636680-19636830	HepG2	liver:	n/a	n/a
40	CTCF	chr10:19636616-19636788	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr10:19636640-19636790	HMF	breast:	n/a	n/a
42	CTCF	chr10:19636605-19636953	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:19636458-19636974	MCF-7	breast:	n/a	n/a
44	CTCF	chr10:19636620-19636770	HEK293	kidney:	n/a	n/a
45	CTCF	chr10:19636643-19636745	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr10:19636540-19636690	HVMF	connective:	n/a	n/a
47	CTCF	chr10:19636620-19636770	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr10:19636620-19636770	HMF	breast:	n/a	n/a
49	CTCF	chr10:19636610-19636843	MCF-7	breast:	n/a	n/a
50	CTCF	chr10:19636660-19636810	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:
2	chr10:19623502..19625941-chr10:19631040..19633191,2	K562	blood:
3	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:
4	chr10:19623502..19625941-chr10:19631040..19633191,2	K562	blood:

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 3301 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:3301 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7100403	chr10:19620439-19620440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191115398	chr10:19620452-19620453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143451917	chr10:19620511-19620512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs137974649	chr10:19620512-19620513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183239780	chr10:19620546-19620547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7082205	chr10:19620559-19620560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555502674	chr10:19620596-19620597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34684543	chr10:19620622-19620623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143545652	chr10:19620655-19620656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147173110	chr10:19620688-19620689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553054516	chr10:19620691-19620692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117904301	chr10:19620701-19620702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34876205	chr10:19620715-19620716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374104070	chr10:19620721-19620722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187633833	chr10:19620757-19620758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138810504	chr10:19620815-19620816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115403062	chr10:19620819-19620820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561856836	chr10:19620828-19620829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35552483	chr10:19620855-19620856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35117531	chr10:19620861-19620862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572215938	chr10:19620881-19620882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12773290	chr10:19620901-19620902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7086084	chr10:19620902-19620903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35927290	chr10:19620952-19620953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552071340	chr10:19620978-19620979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570204001	chr10:19620985-19620986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537659365	chr10:19621037-19621038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556034897	chr10:19621065-19621066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368691602	chr10:19621073-19621074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12768512	chr10:19621101-19621102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139531488	chr10:19621103-19621104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199651372	chr10:19621106-19621107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575672559	chr10:19621108-19621109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543109770	chr10:19621109-19621110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35799353	chr10:19621120-19621121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544651702	chr10:19621128-19621129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557225406	chr10:19621133-19621134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575409555	chr10:19621135-19621136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539651796	chr10:19621168-19621169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193169417	chr10:19621189-19621190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200814521	chr10:19621310-19621311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528254012	chr10:19621329-19621330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546805069	chr10:19621384-19621385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185104507	chr10:19621389-19621390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375362277	chr10:19621393-19621394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533362410	chr10:19621514-19621515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551443499	chr10:19621539-19621540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563689602	chr10:19621622-19621623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531153396	chr10:19621648-19621649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369136535	chr10:19621682-19621683	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19608800-19621800	Weak transcription	Fetal Intestine Large	intestine
3	chr10:19615000-19657000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:19619000-19639400	Weak transcription	HepG2	liver
5	chr10:19621800-19622600	Strong transcription	Fetal Intestine Large	intestine
6	chr10:19622600-19635800	Weak transcription	Fetal Intestine Large	intestine
7	chr10:19635800-19638200	Strong transcription	Fetal Intestine Large	intestine
8	chr10:19637800-19638200	Strong transcription	Fetal Intestine Small	intestine
9	chr10:19638200-19639000	Weak transcription	Fetal Intestine Small	intestine
10	chr10:19638200-19642000	Weak transcription	Fetal Intestine Large	intestine
11	chr10:19639000-19639800	Strong transcription	Fetal Intestine Small	intestine
12	chr10:19639800-19661600	Weak transcription	Fetal Intestine Small	intestine
13	chr10:19642000-19642600	Strong transcription	Fetal Intestine Large	intestine
14	chr10:19642600-19657600	Weak transcription	Fetal Intestine Large	intestine
15	chr10:19647200-19647600	Enhancers	Fetal Lung	lung
16	chr10:19650000-19652200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:19657600-19658000	ZNF genes & repeats	Fetal Intestine Large	intestine
18	chr10:19658000-19674000	Weak transcription	Fetal Intestine Large	intestine
19	chr10:19661600-19662600	Strong transcription	Fetal Intestine Small	intestine
20	chr10:19662400-19663800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr10:19662400-19664000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr10:19662600-19663600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:19662600-19663800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr10:19662600-19663800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr10:19662600-19678400	Weak transcription	Fetal Intestine Small	intestine
26	chr10:19662800-19663400	Enhancers	Brain Germinal Matrix	brain
27	chr10:19674000-19674200	Enhancers	Liver	Liver
28	chr10:19674000-19675800	Enhancers	Fetal Intestine Large	intestine
29	chr10:19674000-19675800	Enhancers	HepG2	liver
30	chr10:19674200-19674400	Flanking Active TSS	Liver	Liver
31	chr10:19674400-19674600	Active TSS	Liver	Liver
32	chr10:19674600-19676000	Enhancers	Liver	Liver
33	chr10:19675000-19675200	Active TSS	Duodenum Mucosa	Duodenum
34	chr10:19675200-19676800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:19675800-19676600	Weak transcription	Fetal Intestine Large	intestine
36	chr10:19675800-19680800	Weak transcription	HepG2	liver
37	chr10:19676600-19676800	Genic enhancers	Fetal Intestine Large	intestine
38	chr10:19676800-19680000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr10:19676800-19681000	Strong transcription	Fetal Intestine Large	intestine
40	chr10:19678400-19679000	Strong transcription	Fetal Intestine Small	intestine
41	chr10:19679000-19680400	Weak transcription	Fetal Intestine Small	intestine
42	chr10:19680000-19694200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:19680400-19681000	Strong transcription	Fetal Intestine Small	intestine
44	chr10:19681000-19687800	Weak transcription	Fetal Intestine Large	intestine
45	chr10:19681000-19728200	Weak transcription	Fetal Intestine Small	intestine
46	chr10:19681800-19682000	Enhancers	Small Intestine	intestine
47	chr10:19684200-19684600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr10:19684200-19684600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr10:19684200-19685000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr10:19687800-19688400	Strong transcription	Fetal Intestine Large	intestine

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