Variant report

Variant	nsv550540
Chromosome Location	chr10:38881431-38936824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:486)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:38886079-38886288	K562	blood:	n/a	n/a
2	BATF	chr10:38887391-38888161	GM12878	blood:	n/a	n/a
3	BATF	chr10:38887401-38888043	GM12878	blood:	n/a	n/a
4	BATF	chr10:38882918-38884179	GM12878	blood:	n/a	n/a
5	BATF	chr10:38883032-38883700	GM12878	blood:	n/a	n/a
6	BATF	chr10:38886542-38887366	GM12878	blood:	n/a	n/a
7	BATF	chr10:38880780-38882475	GM12878	blood:	n/a	n/a
8	BATF	chr10:38884211-38885285	GM12878	blood:	n/a	n/a
9	BATF	chr10:38888323-38888816	GM12878	blood:	n/a	n/a
10	BATF	chr10:38930093-38930312	GM12878	blood:	n/a	n/a
11	BATF	chr10:38886730-38887300	GM12878	blood:	n/a	n/a
12	BATF	chr10:38888270-38888836	GM12878	blood:	n/a	n/a
13	BATF	chr10:38878974-38882417	GM12878	blood:	n/a	n/a
14	BCL11A	chr10:38887364-38888876	GM12878	blood:	n/a	n/a
15	BCL11A	chr10:38879122-38882550	GM12878	blood:	n/a	n/a
16	BCL11A	chr10:38886819-38887199	GM12878	blood:	n/a	n/a
17	BCL11A	chr10:38888288-38888831	GM12878	blood:	n/a	n/a
18	BCL11A	chr10:38886655-38887319	GM12878	blood:	n/a	n/a
19	BCL11A	chr10:38880796-38882416	GM12878	blood:	n/a	n/a
20	BCL11A	chr10:38883020-38883791	GM12878	blood:	n/a	n/a
21	BHLHE40	chr10:38883018-38883704	HepG2	liver:	n/a	n/a
22	BHLHE40	chr10:38886773-38887276	HepG2	liver:	n/a	n/a
23	BHLHE40	chr10:38880816-38882480	HepG2	liver:	n/a	n/a
24	BHLHE40	chr10:38888273-38888875	HepG2	liver:	n/a	n/a
25	CEBPB	chr10:38881431-38882115	K562	blood:	n/a	n/a
26	CEBPD	chr10:38880793-38882521	K562	blood:	n/a	n/a
27	CEBPD	chr10:38888535-38888887	K562	blood:	n/a	n/a
28	CEBPD	chr10:38883048-38883830	K562	blood:	n/a	n/a
29	CHD1	chr10:38882705-38883756	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr10:38885912-38886281	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr10:38881338-38882469	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr10:38903658-38903679	GM10266	blood:	n/a	n/a
33	CTCF	chr10:38898500-38898650	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr10:38913532-38913599	LNCaP	prostate:	n/a	n/a
35	CTCF	chr10:38898500-38898650	RPTEC	kidney:	n/a	n/a
36	CTCF	chr10:38894802-38894960	Lung_OC	lung:	n/a	n/a
37	CTCF	chr10:38898500-38898650	GM12874	blood:	n/a	n/a
38	CTCF	chr10:38902170-38902281	LNCaP	prostate:	n/a	n/a
39	CTCF	chr10:38895718-38895775	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr10:38898514-38898649	HepG2	liver:	n/a	n/a
41	CTCF	chr10:38904070-38904147	LNCaP	prostate:	n/a	n/a
42	CTCF	chr10:38924480-38924630	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr10:38903742-38903810	LNCaP	prostate:	n/a	n/a
44	CTCF	chr10:38911250-38911330	LNCaP	prostate:	n/a	n/a
45	CTCF	chr10:38898480-38898630	GM12868	blood:	n/a	n/a
46	CTCF	chr10:38898520-38898670	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr10:38933967-38934056	LNCaP	prostate:	n/a	n/a
48	CTCF	chr10:38889895-38889999	LNCaP	prostate:	n/a	n/a
49	CTCF	chr10:38902619-38902673	GM13976	blood:	n/a	n/a
50	CTCF	chr10:38898520-38898670	HepG2	liver:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38895771-38895821	HRCEpiC	kidney:	n/a
2	chr10:38908948-38908998	AG10803	skin:	n/a
3	chr10:38891288-38891338	HPAEpiC	pulmonary alveolar:	n/a
4	chr10:38895771-38895821	SK-N-SH	brain:	n/a
5	chr10:38908948-38908998	AG09319	gingival:	n/a
6	chr10:38928989-38929039	HAEpiC	amniotic membrane:	n/a
7	chr10:38895771-38895821	HUVEC	blood vessel:	n/a
8	chr10:38891288-38891338	MCF-7	breast:	n/a
9	chr10:38897218-38897268	HIPEpiC	eye:	n/a
10	chr10:38928989-38929039	HNPCEpiC	eye:	n/a
11	chr10:38928989-38929039	HCT-116	colon:	n/a
12	chr10:38928847-38928897	SK-N-SH	brain:	n/a
13	chr10:38893821-38893871	Jurkat	blood:	n/a
14	chr10:38897218-38897268	NH-A	brain:	n/a
15	chr10:38894299-38894349	SK-N-SH	brain:	n/a
16	chr10:38928989-38929039	AG10803	skin:	n/a
17	chr10:38894299-38894349	GM19239	blood:	n/a
18	chr10:38894299-38894349	AG10803	skin:	n/a
19	chr10:38893821-38893871	SK-N-SH_RA	brain:	n/a
20	chr10:38895771-38895821	HAEpiC	amniotic membrane:	n/a
21	chr10:38928847-38928897	NB4	blood:	n/a
22	chr10:38893821-38893871	HEK293	kidney:	embryo
23	chr10:38894299-38894349	GM12891	blood:	n/a
24	chr10:38895771-38895821	NB4	blood:	n/a
25	chr10:38928989-38929039	GM12892	blood:	n/a
26	chr10:38908948-38908998	PrEC	prostate:	n/a
27	chr10:38897218-38897268	GM12891	blood:	n/a
28	chr10:38928847-38928897	PFSK-1	brain:	n/a
29	chr10:38895771-38895821	HIPEpiC	eye:	n/a
30	chr10:38908948-38908998	RPTEC	kidney:	n/a
31	chr10:38891288-38891338	HIPEpiC	eye:	n/a
32	chr10:38908948-38908998	HCPEpiC	choroid plexus:	n/a
33	chr10:38908948-38908998	HMEC	breast:	n/a
34	chr10:38928847-38928897	MCF-7	breast:	n/a
35	chr10:38893821-38893871	HEEpiC	esophagus:	n/a
36	chr10:38908948-38908998	HL-60	blood:	n/a
37	chr10:38928989-38929039	HPAEpiC	pulmonary alveolar:	n/a
38	chr10:38928847-38928897	GM19239	blood:	n/a
39	chr10:38891288-38891338	H1-hESC	embryonic stem cell:	embryo
40	chr10:38928989-38929039	Caco-2	colon:	n/a
41	chr10:38893821-38893871	GM06990	blood:	n/a
42	chr10:38891288-38891338	SAEC	small airway:	n/a
43	chr10:38893821-38893871	PANC-1	pancreas:	n/a
44	chr10:38908948-38908998	CMK	blood:	n/a
45	chr10:38895771-38895821	HCPEpiC	choroid plexus:	n/a
46	chr10:38897218-38897268	HRPEpiC	eye:	n/a
47	chr10:38897218-38897268	ProgFib	skin:	n/a
48	chr10:38928847-38928897	GM12891	blood:	n/a
49	chr10:38928847-38928897	AG04449	skin:	fetal
50	chr10:38891288-38891338	SK-N-SH	brain:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF37A-16	chr10:38929039-38931213	NONHSAT012834
2	lnc-SEPT7L-2	chr10:38934102-38934317	NONHSAT012835
3	lnc-SEPT7L-2	chr10:38933913-38934317	ENSG00000233867
4	lnc-SEPT7L-2	chr10:38934082-38934317	ENSG00000233867

No data

Variant related genes	Relation type
PABPC1P12	TF binding region
ABCD1P2	TF binding region
PABPC1P12	CpG island
ABCD1P2	CpG island

Extended variants
information (count: 2074 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:2074 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12774178	chr10:38881431-38881432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113965626	chr10:38881442-38881443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111855615	chr10:38881444-38881445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554976814	chr10:38881449-38881450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62635568	chr10:38881453-38881454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145604998	chr10:38881463-38881464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537568038	chr10:38881467-38881468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557152911	chr10:38881470-38881471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577109309	chr10:38881473-38881474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62635569	chr10:38881480-38881481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546060617	chr10:38881485-38881486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374912728	chr10:38881486-38881487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376122060	chr10:38881503-38881504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201412580	chr10:38881504-38881505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553287652	chr10:38881507-38881508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573117822	chr10:38881516-38881517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541431850	chr10:38881528-38881529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562238365	chr10:38881529-38881530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374578556	chr10:38881538-38881539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113142606	chr10:38881541-38881542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200553606	chr10:38881542-38881543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368635465	chr10:38881547-38881548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530480111	chr10:38881551-38881552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201201570	chr10:38881552-38881553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186065124	chr10:38881554-38881555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375464111	chr10:38881557-38881558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368328188	chr10:38881558-38881559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371595017	chr10:38881568-38881569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144770637	chr10:38881576-38881577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141080745	chr10:38881577-38881578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376235079	chr10:38881586-38881587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191989286	chr10:38881587-38881588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149245079	chr10:38881592-38881593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368998369	chr10:38881593-38881594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563888853	chr10:38881594-38881595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111237870	chr10:38881602-38881603	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs532560878	chr10:38881603-38881604	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552390435	chr10:38881604-38881605	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12763108	chr10:38881607-38881608	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528805506	chr10:38881608-38881609	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200837383	chr10:38881619-38881620	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201861941	chr10:38881620-38881621	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs193185207	chr10:38881623-38881624	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144253281	chr10:38881628-38881629	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs144347596	chr10:38881630-38881631	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs62635570	chr10:38881646-38881647	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs144587179	chr10:38881650-38881651	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs200967343	chr10:38881656-38881657	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111208585	chr10:38881671-38881672	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568451723	chr10:38881680-38881681	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Myelofibrosis	22110671	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38868800-38883800	ZNF genes & repeats	Gastric	stomach
2	chr10:38868800-38884200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr10:38868800-38888600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr10:38868800-38888800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:38868800-38888800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr10:38868800-38888800	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr10:38868800-38888800	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr10:38868800-38888800	ZNF genes & repeats	Brain Substantia Nigra	brain
9	chr10:38868800-38888800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr10:38868800-38888800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr10:38868800-38888800	ZNF genes & repeats	Fetal Lung	lung
12	chr10:38868800-38888800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr10:38868800-38889000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr10:38868800-38889000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr10:38869000-38882400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
16	chr10:38869000-38882400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
17	chr10:38869000-38882400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
18	chr10:38869000-38882400	ZNF genes & repeats	K562	blood
19	chr10:38869000-38882800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr10:38869000-38883600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr10:38869000-38883600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:38869000-38883800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:38869000-38884600	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr10:38869000-38885000	ZNF genes & repeats	GM12878-XiMat	blood
25	chr10:38869000-38885200	ZNF genes & repeats	Fetal Kidney	kidney
26	chr10:38869000-38887200	ZNF genes & repeats	Dnd41	blood
27	chr10:38869000-38888200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:38869000-38888600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:38869000-38888600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:38869000-38888600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr10:38869000-38888800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr10:38869000-38888800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr10:38869000-38888800	ZNF genes & repeats	Liver	Liver
34	chr10:38869000-38888800	ZNF genes & repeats	Fetal Brain Male	brain
35	chr10:38869000-38888800	ZNF genes & repeats	HUVEC	blood vessel
36	chr10:38869000-38889000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr10:38869000-38889000	ZNF genes & repeats	HepG2	liver
38	chr10:38871000-38884200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
39	chr10:38871600-38888600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
40	chr10:38872000-38882800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:38873400-38888800	ZNF genes & repeats	Fetal Heart	heart
42	chr10:38876800-38884400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
43	chr10:38877000-38882200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr10:38877000-38883600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
45	chr10:38877000-38883800	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr10:38877200-38881600	Weak transcription	NHEK	skin
47	chr10:38878800-38883800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr10:38879200-38883800	ZNF genes & repeats	Colon Smooth Muscle	Colon
49	chr10:38880000-38882400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:38880000-38883600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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