Variant report

Variant	esv3327175
Chromosome Location	chr10:38892471-38895519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:38894847-38894890	Medullo	brain:	n/a	n/a
2	CTCF	chr10:38894802-38894960	Lung_OC	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38894299-38894349	HIPEpiC	eye:	n/a
2	chr10:38894299-38894349	AoSMC	blood vessel:	n/a
3	chr10:38894299-38894349	SK-N-SH	brain:	n/a
4	chr10:38893821-38893871	HIPEpiC	eye:	n/a
5	chr10:38894299-38894349	A549	lung:	n/a
6	chr10:38893821-38893871	SAEC	small airway:	n/a
7	chr10:38893821-38893871	HEK293	kidney:	embryo
8	chr10:38894299-38894349	AG04450	lung:	fetal
9	chr10:38894299-38894349	AG09309	skin:	n/a
10	chr10:38894299-38894349	ProgFib	skin:	n/a
11	chr10:38893821-38893871	HRCEpiC	kidney:	n/a
12	chr10:38893821-38893871	ovcar-3	ovarian:	n/a
13	chr10:38894299-38894349	HCPEpiC	choroid plexus:	n/a
14	chr10:38894299-38894349	AG09319	gingival:	n/a
15	chr10:38893821-38893871	BJ	skin:	n/a
16	chr10:38894299-38894349	GM12891	blood:	n/a
17	chr10:38894299-38894349	Caco-2	colon:	n/a
18	chr10:38894299-38894349	HL-60	blood:	n/a
19	chr10:38894299-38894349	HPAEpiC	pulmonary alveolar:	n/a
20	chr10:38893821-38893871	NHBE	bronchial:	n/a
21	chr10:38894299-38894349	HRE	kidney:	n/a
22	chr10:38894299-38894349	NHBE	bronchial:	n/a
23	chr10:38893821-38893871	HCPEpiC	choroid plexus:	n/a
24	chr10:38893821-38893871	NB4	blood:	n/a
25	chr10:38894299-38894349	Hepatocyte	liver:	n/a
26	chr10:38893821-38893871	H1-hESC	embryonic stem cell:	embryo
27	chr10:38893821-38893871	GM12892	blood:	n/a
28	chr10:38894299-38894349	HCT-116	colon:	n/a
29	chr10:38893821-38893871	HCF	heart:	n/a
30	chr10:38893821-38893871	LNCaP	prostate:	n/a
31	chr10:38893821-38893871	RPTEC	kidney:	n/a
32	chr10:38894299-38894349	SK-N-SH_RA	brain:	n/a
33	chr10:38894299-38894349	NH-A	brain:	n/a
34	chr10:38893821-38893871	HEEpiC	esophagus:	n/a
35	chr10:38894299-38894349	MCF-7	breast:	n/a
36	chr10:38893821-38893871	ProgFib	skin:	n/a
37	chr10:38894299-38894349	K562	blood:	n/a
38	chr10:38893821-38893871	GM06990	blood:	n/a
39	chr10:38894299-38894349	HMEC	breast:	n/a
40	chr10:38893821-38893871	AG09319	gingival:	n/a
41	chr10:38894299-38894349	SKMC	muscle:	n/a
42	chr10:38893821-38893871	A549	lung:	n/a
43	chr10:38893821-38893871	ECC-1	luminal epithelium:	n/a
44	chr10:38893821-38893871	Hepatocyte	liver:	n/a
45	chr10:38894299-38894349	BJ	skin:	n/a
46	chr10:38894299-38894349	H1-hESC	embryonic stem cell:	embryo
47	chr10:38893821-38893871	SK-N-MC	brain:	n/a
48	chr10:38893821-38893871	HMEC	breast:	n/a
49	chr10:38894299-38894349	GM12878	blood:	n/a
50	chr10:38893821-38893871	Hela-S3	cervix:	n/a

No data

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

Extended variants
information (count: 169 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369005841	chr10:38893602-38893603	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs375890510	chr10:38893604-38893605	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs200618160	chr10:38893637-38893638	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs12356546	chr10:38893638-38893639	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs113945255	chr10:38893642-38893643	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs74184516	chr10:38893648-38893649	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs115273031	chr10:38893656-38893657	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs12772202	chr10:38893661-38893662	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs12764843	chr10:38893668-38893669	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs184923148	chr10:38893688-38893689	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs550161846	chr10:38893707-38893708	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs190567044	chr10:38893729-38893730	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs180836117	chr10:38893732-38893733	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs539146468	chr10:38893764-38893765	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12785222	chr10:38893779-38893780	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs570522183	chr10:38893806-38893807	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572534150	chr10:38893815-38893816	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184467876	chr10:38893830-38893831	ZNF genes & repeats Bivalent Enhancer Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs189736102	chr10:38893837-38893838	ZNF genes & repeats Bivalent Enhancer Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs151144974	chr10:38893858-38893859	ZNF genes & repeats Bivalent Enhancer Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs371097303	chr10:38893885-38893886	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185718419	chr10:38893893-38893894	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201627702	chr10:38893917-38893918	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190522568	chr10:38893923-38893924	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535237362	chr10:38893973-38893974	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554937403	chr10:38893981-38893982	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs575082260	chr10:38893982-38893983	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74798172	chr10:38894004-38894005	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563664136	chr10:38894015-38894016	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552864376	chr10:38894023-38894024	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111821253	chr10:38894041-38894042	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs7474985	chr10:38894051-38894052	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112554268	chr10:38894059-38894060	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186226576	chr10:38894072-38894073	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113785529	chr10:38894079-38894080	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs577357572	chr10:38894083-38894084	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs36148003	chr10:38894085-38894086	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535363406	chr10:38894094-38894095	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374945548	chr10:38894122-38894123	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117492659	chr10:38894137-38894138	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs71010445	chr10:38894148-38894149	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377074324	chr10:38894210-38894211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs559830193	chr10:38894218-38894219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114888437	chr10:38894235-38894236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs548383948	chr10:38894255-38894256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs561785325	chr10:38894256-38894257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530721253	chr10:38894271-38894272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs543370935	chr10:38894304-38894305	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs201135419	chr10:38894305-38894306	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs76586104	chr10:38894336-38894337	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:38)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38893600-38894000	Bivalent Enhancer	Placenta	Placenta
2	chr10:38893600-38894200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr10:38893600-38896200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:38893800-38894200	Active TSS	Right Ventricle	heart

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