Variant report

Variant	nsv550124
Chromosome Location	chr10:19205103-19307536
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	BACH1	chr10:19273641-19273802	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr10:19228981-19229262	A549	lung:	n/a	chr10:19229115-19229126 chr10:19229080-19229091
3	CEBPB	chr10:19305128-19305328	HepG2	liver:	n/a	chr10:19305246-19305257 chr10:19305245-19305258 chr10:19305247-19305256
4	CEBPB	chr10:19257884-19258199	IMR90	lung:	n/a	chr10:19258053-19258064
5	CEBPB	chr10:19305115-19305360	A549	lung:	n/a	chr10:19305246-19305257 chr10:19305245-19305258 chr10:19305247-19305256
6	CEBPB	chr10:19302938-19303346	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr10:19302924-19303396	IMR90	lung:	n/a	n/a
8	CEBPB	chr10:19207422-19207998	IMR90	lung:	n/a	n/a
9	CEBPB	chr10:19273682-19273761	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr10:19257884-19258218	HepG2	liver:	n/a	chr10:19258053-19258064
11	CEBPB	chr10:19257154-19257451	Hela-S3	cervix:	n/a	chr10:19257215-19257228 chr10:19257217-19257226
12	CEBPB	chr10:19257878-19258083	Hela-S3	cervix:	n/a	chr10:19258053-19258064
13	CEBPB	chr10:19257883-19258213	A549	lung:	n/a	chr10:19258053-19258064
14	CEBPB	chr10:19228942-19229258	HepG2	liver:	n/a	chr10:19229115-19229126 chr10:19229080-19229091
15	CEBPB	chr10:19205510-19205642	HepG2	liver:	n/a	chr10:19205599-19205610 chr10:19205599-19205612
16	CEBPB	chr10:19228950-19229265	IMR90	lung:	n/a	chr10:19229115-19229126 chr10:19229080-19229091
17	CEBPB	chr10:19229002-19229405	Hela-S3	cervix:	n/a	chr10:19229115-19229126 chr10:19229080-19229091
18	CEBPB	chr10:19229053-19229096	H1-hESC	embryonic stem cell:	n/a	chr10:19229080-19229091
19	CEBPB	chr10:19270236-19270544	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr10:19207421-19207479	GM13976	blood:	n/a	n/a
21	CTCF	chr10:19213826-19213852	GM10266	blood:	n/a	n/a
22	CTCF	chr10:19206920-19207070	HepG2	liver:	n/a	chr10:19206987-19207008 chr10:19206985-19207003
23	CTCF	chr10:19230617-19230648	ProgFib	skin:	n/a	n/a
24	CTCF	chr10:19206953-19207023	HepG2	liver:	n/a	chr10:19206987-19207008 chr10:19206985-19207003
25	CTCF	chr10:19245699-19245769	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr10:19206960-19207110	HepG2	liver:	n/a	chr10:19206987-19207008 chr10:19206985-19207003
27	CTCF	chr10:19206917-19207025	H1-hESC	embryonic stem cell:	n/a	chr10:19206987-19207008 chr10:19206985-19207003
28	CTCF	chr10:19277746-19277832	GM13976	blood:	n/a	n/a
29	CTCF	chr10:19240137-19240209	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F4	chr10:19303041-19303379	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr10:19256695-19257521	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr10:19242394-19242432	GM12878	blood:	n/a	n/a
33	EP300	chr10:19302995-19303314	Hela-S3	cervix:	n/a	n/a
34	EP300	chr10:19257173-19257428	Hela-S3	cervix:	n/a	n/a
35	FOS	chr10:19302956-19303387	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr10:19238454-19238557	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr10:19264430-19264649	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr10:19273555-19273800	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr10:19228932-19229260	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr10:19228952-19229278	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr10:19273533-19273804	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr10:19264399-19264618	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr10:19290323-19290462	MCF10A-Er-Src	breast:	n/a	chr10:19290364-19290371 chr10:19290362-19290372 chr10:19290361-19290373 chr10:19290363-19290372 chr10:19290363-19290371
44	FOS	chr10:19228949-19229297	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr10:19207553-19207702	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr10:19207484-19207841	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr10:19302868-19303401	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr10:19302902-19303438	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr10:19257159-19257484	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr10:19228945-19229252	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:19239748-19239798	A549	lung:	n/a
2	chr10:19239748-19239798	HPAEpiC	pulmonary alveolar:	n/a
3	chr10:19239748-19239798	ECC-1	luminal epithelium:	n/a
4	chr10:19239748-19239798	GM19239	blood:	n/a
5	chr10:19239748-19239798	HUVEC	blood vessel:	n/a
6	chr10:19239748-19239798	GM06990	blood:	n/a
7	chr10:19239748-19239798	HCF	heart:	n/a
8	chr10:19239748-19239798	HCM	heart:	n/a
9	chr10:19239748-19239798	SK-N-SH_RA	brain:	n/a
10	chr10:19239748-19239798	AG04449	skin:	fetal
11	chr10:19239748-19239798	IMR90	lung:	fetal
12	chr10:19239748-19239798	ovcar-3	ovarian:	n/a
13	chr10:19239748-19239798	Hela-S3	cervix:	n/a
14	chr10:19239748-19239798	SK-N-SH	brain:	n/a
15	chr10:19239748-19239798	HCT-116	colon:	n/a
16	chr10:19239748-19239798	CMK	blood:	n/a
17	chr10:19239748-19239798	PFSK-1	brain:	n/a
18	chr10:19239748-19239798	BJ	skin:	n/a
19	chr10:19239748-19239798	T-47D	breast:	n/a
20	chr10:19239748-19239798	HepG2	liver:	n/a
21	chr10:19239748-19239798	AG04450	lung:	fetal
22	chr10:19239748-19239798	H1-hESC	embryonic stem cell:	embryo
23	chr10:19239748-19239798	NB4	blood:	n/a
24	chr10:19239748-19239798	NH-A	brain:	n/a
25	chr10:19239748-19239798	NT2-D1	testis:	n/a
26	chr10:19239748-19239798	PrEC	prostate:	n/a
27	chr10:19239748-19239798	SK-N-MC	brain:	n/a
28	chr10:19239748-19239798	ProgFib	skin:	n/a
29	chr10:19239748-19239798	NHBE	bronchial:	n/a
30	chr10:19239748-19239798	Caco-2	colon:	n/a
31	chr10:19239748-19239798	HMEC	breast:	n/a
32	chr10:19239748-19239798	MCF10A-Er-Src	breast:	n/a
33	chr10:19239748-19239798	U87	brain:	n/a
34	chr10:19239748-19239798	HAEpiC	amniotic membrane:	n/a
35	chr10:19239748-19239798	HL-60	blood:	n/a
36	chr10:19239748-19239798	LNCaP	prostate:	n/a
37	chr10:19239748-19239798	AG09309	skin:	n/a
38	chr10:19239748-19239798	GM12878	blood:	n/a
39	chr10:19239748-19239798	NHDF-neo	bronchial:	n/a
40	chr10:19239748-19239798	GM12892	blood:	n/a
41	chr10:19239748-19239798	HRCEpiC	kidney:	n/a
42	chr10:19239748-19239798	HIPEpiC	eye:	n/a
43	chr10:19239748-19239798	AG09319	gingival:	n/a
44	chr10:19239748-19239798	BE2_C	brain:	n/a
45	chr10:19239748-19239798	AG10803	skin:	n/a
46	chr10:19239748-19239798	HEK293	kidney:	embryo
47	chr10:19239748-19239798	PANC-1	pancreas:	n/a
48	chr10:19239748-19239798	GM12891	blood:	n/a
49	chr10:19239748-19239798	HRE	kidney:	n/a
50	chr10:19239748-19239798	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:19239311..19240811-chr3:183545007..183546708,2	MCF-7	breast:
2	chr10:19231508..19233378-chr10:19238070..19240382,2	K562	blood:
3	chr10:19231508..19233378-chr10:19238070..19240382,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL5B-3	chr10:19219372-19219643	XLOC_008407
2	lnc-ARL5B-3	chr10:19219126-19219164	XLOC_008407
3	lnc-ARL5B-7	chr10:19229430-19229882	NONHSAT011657

Variant related genes	Relation type
ENSG00000234813	TF binding region
ENSG00000234813	CpG island
HMGA2	miRNA target sites

Extended variants
information (count: 1288 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1288 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569081688	chr10:19206801-19206802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374272691	chr10:19206811-19206812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192888424	chr10:19206850-19206851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142377750	chr10:19206887-19206888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554949645	chr10:19206899-19206900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566504677	chr10:19206926-19206927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533930199	chr10:19206936-19206937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533553246	chr10:19207008-19207009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112760899	chr10:19207041-19207042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11591578	chr10:19207061-19207062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56314234	chr10:19207073-19207074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34835965	chr10:19207081-19207082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61648896	chr10:19207086-19207087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184527210	chr10:19207100-19207101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57178107	chr10:19207133-19207134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371591176	chr10:19207147-19207148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189360794	chr10:19207169-19207170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560183682	chr10:19207180-19207181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567712222	chr10:19207289-19207290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374071745	chr10:19207322-19207323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143279411	chr10:19207350-19207351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57360692	chr10:19207429-19207430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs180744620	chr10:19207433-19207434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532492270	chr10:19207441-19207442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1887924	chr10:19207446-19207447	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569143323	chr10:19207454-19207455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185783036	chr10:19207466-19207467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74683703	chr10:19207473-19207474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567057388	chr10:19207483-19207484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536598782	chr10:19207486-19207487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538873750	chr10:19207488-19207489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72781290	chr10:19207493-19207494	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570438266	chr10:19207500-19207501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537971923	chr10:19207516-19207517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556281930	chr10:19207535-19207536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372797725	chr10:19207537-19207538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1887923	chr10:19207542-19207543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189155923	chr10:19207552-19207553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181581184	chr10:19207556-19207557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148334412	chr10:19207597-19207598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185831168	chr10:19207599-19207600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140534444	chr10:19207612-19207613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115474194	chr10:19207617-19207618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544342096	chr10:19207634-19207635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559710938	chr10:19207640-19207641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530165270	chr10:19207642-19207643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548509048	chr10:19207661-19207662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567235826	chr10:19207666-19207667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374740290	chr10:19207671-19207672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560704632	chr10:19207678-19207679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19206800-19209400	Weak transcription	Small Intestine	intestine
2	chr10:19207000-19208400	Enhancers	NH-A	brain
3	chr10:19207200-19207600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:19207200-19208200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr10:19208000-19208200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:19209400-19210200	Enhancers	Small Intestine	intestine
7	chr10:19214400-19214600	Enhancers	Small Intestine	intestine
8	chr10:19219400-19221000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:19238800-19239400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:19240000-19240200	Enhancers	Placenta	Placenta
11	chr10:19240200-19241000	Active TSS	Placenta	Placenta
12	chr10:19243400-19244600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:19243600-19244200	Enhancers	Adipose Nuclei	Adipose
14	chr10:19244000-19244600	Enhancers	Fetal Lung	lung
15	chr10:19244600-19245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:19244600-19246000	Weak transcription	Fetal Lung	lung
17	chr10:19245800-19246000	Enhancers	Adipose Nuclei	Adipose
18	chr10:19246000-19246200	Enhancers	Fetal Lung	lung
19	chr10:19247000-19247200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:19254200-19254400	Enhancers	Fetal Lung	lung
21	chr10:19255600-19256000	Enhancers	Fetal Intestine Small	intestine
22	chr10:19256000-19256400	Weak transcription	Fetal Intestine Small	intestine
23	chr10:19256400-19256600	Enhancers	Fetal Intestine Small	intestine
24	chr10:19256400-19257200	Enhancers	Hela-S3	cervix
25	chr10:19256600-19257800	Weak transcription	Fetal Intestine Small	intestine
26	chr10:19256600-19258200	Enhancers	Fetal Intestine Large	intestine
27	chr10:19257800-19258000	Enhancers	Fetal Intestine Small	intestine
28	chr10:19264400-19265400	Enhancers	Fetal Intestine Small	intestine
29	chr10:19264400-19268400	Enhancers	Fetal Intestine Large	intestine
30	chr10:19264600-19265400	Enhancers	Duodenum Mucosa	Duodenum
31	chr10:19265400-19266200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr10:19265400-19266200	Weak transcription	Fetal Intestine Small	intestine
33	chr10:19266200-19266400	Enhancers	Duodenum Mucosa	Duodenum
34	chr10:19266200-19267800	Enhancers	Fetal Intestine Small	intestine
35	chr10:19266400-19267000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:19267000-19267200	Enhancers	Duodenum Mucosa	Duodenum
37	chr10:19267800-19273200	Weak transcription	Fetal Intestine Small	intestine
38	chr10:19268400-19268800	Weak transcription	Fetal Intestine Large	intestine
39	chr10:19268800-19269000	Enhancers	Fetal Intestine Large	intestine
40	chr10:19268800-19269200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr10:19268800-19269200	Enhancers	Fetal Lung	lung
42	chr10:19269000-19273200	Weak transcription	Fetal Intestine Large	intestine
43	chr10:19269200-19273400	Weak transcription	Fetal Lung	lung
44	chr10:19273200-19273600	Enhancers	Fetal Intestine Large	intestine
45	chr10:19273200-19273800	Enhancers	Fetal Intestine Small	intestine
46	chr10:19273400-19273600	Enhancers	Fetal Lung	lung
47	chr10:19273400-19273800	Enhancers	Hela-S3	cervix
48	chr10:19273600-19274000	Weak transcription	Fetal Lung	lung
49	chr10:19274000-19274400	Enhancers	Fetal Lung	lung
50	chr10:19290400-19290800	Enhancers	Hela-S3	cervix

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