Variant report

Variant	nsv894921
Chromosome Location	chr10:19559785-19683943
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	chr10:19603428-19603923	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:19674771-19675173	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	chr10:19621255-19621616	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
7	CEBPB	chr10:19621253-19621585	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
8	CEBPB	chr10:19617569-19617929	HepG2	liver:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
9	CEBPB	chr10:19621239-19621618	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
10	CEBPB	chr10:19621243-19621575	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
11	CEBPB	chr10:19617015-19617159	IMR90	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
12	CEBPB	chr10:19621212-19621668	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
13	CEBPB	chr10:19617601-19617911	A549	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
14	CEBPB	chr10:19621293-19621574	ECC-1	luminal epithelium:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
15	CEBPB	chr10:19593499-19593740	HepG2	liver:	n/a	n/a
16	CEBPB	chr10:19621246-19621602	K562	blood:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
17	CEBPB	chr10:19621286-19621558	H1-hESC	embryonic stem cell:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
18	CEBPB	chr10:19617522-19618040	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
19	CEBPB	chr10:19621307-19621498	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
20	CEBPB	chr10:19589005-19589242	IMR90	lung:	n/a	n/a
21	CEBPB	chr10:19653229-19653328	IMR90	lung:	n/a	chr10:19653266-19653279 chr10:19653266-19653279 chr10:19653268-19653279 chr10:19653266-19653279 chr10:19653268-19653279
22	CEBPB	chr10:19616929-19617199	HepG2	liver:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
23	CEBPB	chr10:19674771-19675146	HepG2	liver:	n/a	chr10:19674953-19674964
24	CEBPB	chr10:19648171-19648434	HepG2	liver:	n/a	chr10:19648298-19648311 chr10:19648299-19648310
25	CEBPB	chr10:19621251-19621616	Hela-S3	cervix:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
26	CEBPB	chr10:19617562-19617902	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
27	CEBPB	chr10:19630705-19631211	Hela-S3	cervix:	n/a	chr10:19631083-19631092 chr10:19631083-19631092
28	CEBPB	chr10:19617025-19617162	A549	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
29	CEBPB	chr10:19617567-19617931	IMR90	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
30	CEBPB	chr10:19589028-19589280	HepG2	liver:	n/a	n/a
31	CEBPB	chr10:19617561-19617954	Hela-S3	cervix:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
32	CEBPB	chr10:19621201-19621687	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
33	CEBPB	chr10:19621245-19621611	IMR90	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
34	CEBPB	chr10:19625503-19625733	HepG2	liver:	n/a	chr10:19625623-19625634
35	CEBPB	chr10:19617597-19617861	H1-hESC	embryonic stem cell:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
36	CEBPB	chr10:19674826-19675024	HepG2	liver:	n/a	chr10:19674953-19674964
37	CEBPZ	chr10:19641658-19641670	HepG2	liver:	n/a	n/a
38	CTCF	chr10:19636704-19636812	A549	lung:	n/a	n/a
39	CTCF	chr10:19636660-19636810	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr10:19636660-19636810	NHEK	skin:	n/a	n/a
41	CTCF	chr10:19636668-19636736	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr10:19636680-19636830	HAc	cerebellar:	n/a	n/a
43	CTCF	chr10:19636600-19636750	Caco-2	colon:	n/a	n/a
44	CTCF	chr10:19636620-19636770	GM12866	blood:	n/a	n/a
45	CTCF	chr10:19636640-19636790	BE2_C	brain:	n/a	n/a
46	CTCF	chr10:19636617-19636787	LNCaP	prostate:	n/a	n/a
47	CTCF	chr10:19636620-19636770	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr10:19636660-19636810	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr10:19567739-19567782	GM10266	blood:	n/a	n/a
50	CTCF	chr10:19636707-19636829	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
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:
5	chr10:19578194..19580695-chr10:19582089..19585004,2	K562	blood:
6	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
7	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:
8	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
9	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
10	chr10:19610336..19613284-chr14:35868183..35870740,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN6-6	chr10:19580351-19580409	XLOC_008744
2	lnc-NSUN6-6	chr10:19579152-19579395	XLOC_008744

Variant related genes	Relation type
MALRD1	TF binding region
ENSG00000227734	TF binding region
ENSG00000227734	chromatin interactions

Extended variants
information (count: 5522 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:5522 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55985410	chr10:19559785-19559786	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371623280	chr10:19559856-19559857	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72796441	chr10:19559858-19559859	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368596356	chr10:19559891-19559892	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143164988	chr10:19559938-19559939	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147513023	chr10:19560036-19560037	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573115207	chr10:19560047-19560048	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10827187	chr10:19560052-19560053	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529714316	chr10:19560069-19560070	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576912717	chr10:19560076-19560077	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543957716	chr10:19560127-19560128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148576777	chr10:19560128-19560129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368728533	chr10:19560132-19560133	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373843054	chr10:19560144-19560145	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574460839	chr10:19560202-19560203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185222643	chr10:19560208-19560209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142986237	chr10:19560215-19560216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377534264	chr10:19560235-19560236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2499073	chr10:19560251-19560252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190810240	chr10:19560277-19560278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575692549	chr10:19560313-19560314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61198078	chr10:19560320-19560321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182628329	chr10:19560323-19560324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532671264	chr10:19560416-19560417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551846834	chr10:19560421-19560422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371458183	chr10:19560459-19560460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568931249	chr10:19560466-19560467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188870888	chr10:19560475-19560476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112102349	chr10:19560476-19560477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534217705	chr10:19560488-19560489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367889890	chr10:19560491-19560492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559141338	chr10:19560498-19560499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183165626	chr10:19560508-19560509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376598705	chr10:19560517-19560518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57609165	chr10:19560550-19560551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574497223	chr10:19560563-19560564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541801089	chr10:19560564-19560565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2496045	chr10:19560565-19560566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144009044	chr10:19560611-19560612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545761642	chr10:19560617-19560618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571935609	chr10:19560641-19560642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564330655	chr10:19560642-19560643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531377107	chr10:19560649-19560650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113297870	chr10:19560661-19560662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146452510	chr10:19560678-19560679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113092108	chr10:19560679-19560680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530133091	chr10:19560704-19560705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367670559	chr10:19560724-19560725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112614795	chr10:19560728-19560729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538640206	chr10:19560769-19560770	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
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19538000-19572800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19548600-19587000	Weak transcription	Fetal Intestine Large	intestine
3	chr10:19558200-19560200	Strong transcription	Duodenum Mucosa	Duodenum
4	chr10:19559600-19560000	Enhancers	Fetal Brain Male	brain
5	chr10:19560200-19561400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:19561400-19561800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr10:19561800-19572200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:19572200-19573000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr10:19572800-19573200	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:19573200-19580200	Weak transcription	Fetal Intestine Small	intestine
12	chr10:19579200-19579600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr10:19579600-19580000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:19580000-19580800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr10:19580200-19580600	Enhancers	Fetal Intestine Small	intestine
16	chr10:19580200-19580600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr10:19580600-19587000	Weak transcription	Fetal Intestine Small	intestine
18	chr10:19582600-19582800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr10:19587000-19587400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr10:19587000-19587600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:19587000-19587600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr10:19587000-19587600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:19587000-19587800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:19587000-19587800	Strong transcription	Fetal Intestine Small	intestine
25	chr10:19587000-19589000	Strong transcription	Fetal Intestine Large	intestine
26	chr10:19587200-19587600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr10:19587200-19587600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:19587200-19587800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
30	chr10:19588800-19590400	Weak transcription	NH-A	brain
31	chr10:19589000-19608400	Weak transcription	Fetal Intestine Large	intestine
32	chr10:19590400-19591600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr10:19590400-19591600	Enhancers	HMEC	breast
34	chr10:19590400-19591600	Enhancers	NHEK	skin
35	chr10:19590400-19591600	Enhancers	Osteobl	bone
36	chr10:19590400-19591800	Enhancers	NH-A	brain
37	chr10:19590800-19591200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:19591000-19591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:19591800-19593800	Weak transcription	NH-A	brain
40	chr10:19593800-19594600	Enhancers	NH-A	brain
41	chr10:19594600-19598600	Weak transcription	NH-A	brain
42	chr10:19596200-19603600	Weak transcription	HepG2	liver
43	chr10:19598600-19599600	Enhancers	NH-A	brain
44	chr10:19598800-19599800	Enhancers	Osteobl	bone
45	chr10:19599000-19599400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr10:19599200-19599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr10:19600800-19601200	Enhancers	Fetal Heart	heart
48	chr10:19608400-19608800	Strong transcription	Fetal Intestine Large	intestine
49	chr10:19608800-19621800	Weak transcription	Fetal Intestine Large	intestine
50	chr10:19612400-19614800	Weak transcription	Duodenum Mucosa	Duodenum

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