Variant report

Variant	esv3367138
Chromosome Location	chr15:40185810-40188158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:40187037-40187047	H1-hESC	embryonic stem cell:	n/a	n/a
2	NR2F2	chr15:40185204-40185821	K562	blood:	n/a	n/a
3	PAX5	chr15:40187035-40187444	GM12878	blood:	n/a	n/a
4	PAX5	chr15:40187158-40187374	GM12878	blood:	n/a	n/a
5	PAX5	chr15:40187149-40187307	GM12878	blood:	n/a	n/a
6	PAX5	chr15:40187095-40187424	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40187233-40187283	HRPEpiC	eye:	n/a
2	chr15:40187233-40187283	RPTEC	kidney:	n/a
3	chr15:40187233-40187283	A549	lung:	n/a
4	chr15:40187233-40187283	HCT-116	colon:	n/a
5	chr15:40187233-40187283	NH-A	brain:	n/a
6	chr15:40187233-40187283	HL-60	blood:	n/a
7	chr15:40187233-40187283	HCPEpiC	choroid plexus:	n/a
8	chr15:40187233-40187283	ProgFib	skin:	n/a
9	chr15:40187233-40187283	H1-hESC	embryonic stem cell:	embryo
10	chr15:40187233-40187283	Hepatocyte	liver:	n/a
11	chr15:40187233-40187283	HEK293	kidney:	embryo
12	chr15:40187233-40187283	PANC-1	pancreas:	n/a
13	chr15:40187233-40187283	AG10803	skin:	n/a
14	chr15:40187233-40187283	CMK	blood:	n/a
15	chr15:40187233-40187283	U87	brain:	n/a
16	chr15:40187233-40187283	HepG2	liver:	n/a
17	chr15:40187233-40187283	GM12891	blood:	n/a
18	chr15:40187233-40187283	K562	blood:	n/a
19	chr15:40187233-40187283	AoSMC	blood vessel:	n/a
20	chr15:40187233-40187283	HPAEpiC	pulmonary alveolar:	n/a
21	chr15:40187233-40187283	GM06990	blood:	n/a
22	chr15:40187233-40187283	IMR90	lung:	fetal
23	chr15:40187233-40187283	HRCEpiC	kidney:	n/a
24	chr15:40187233-40187283	HEEpiC	esophagus:	n/a
25	chr15:40187233-40187283	HIPEpiC	eye:	n/a
26	chr15:40187233-40187283	HRE	kidney:	n/a
27	chr15:40187233-40187283	AG04450	lung:	fetal
28	chr15:40187233-40187283	Hela-S3	cervix:	n/a
29	chr15:40187233-40187283	Caco-2	colon:	n/a
30	chr15:40187233-40187283	ECC-1	luminal epithelium:	n/a
31	chr15:40187233-40187283	T-47D	breast:	n/a
32	chr15:40187233-40187283	HCM	heart:	n/a
33	chr15:40187233-40187283	PFSK-1	brain:	n/a
34	chr15:40187233-40187283	NHBE	bronchial:	n/a
35	chr15:40187233-40187283	ovcar-3	ovarian:	n/a
36	chr15:40187233-40187283	BE2_C	brain:	n/a
37	chr15:40187233-40187283	GM12878	blood:	n/a
38	chr15:40187233-40187283	HMEC	breast:	n/a
39	chr15:40187233-40187283	AG04449	skin:	fetal
40	chr15:40187233-40187283	GM19239	blood:	n/a
41	chr15:40187233-40187283	LNCaP	prostate:	n/a
42	chr15:40187233-40187283	SKMC	muscle:	n/a
43	chr15:40187233-40187283	SAEC	small airway:	n/a
44	chr15:40187233-40187283	HNPCEpiC	eye:	n/a
45	chr15:40187233-40187283	PrEC	prostate:	n/a
46	chr15:40187233-40187283	HCF	heart:	n/a
47	chr15:40187233-40187283	NT2-D1	testis:	n/a
48	chr15:40187233-40187283	MCF-7	breast:	n/a
49	chr15:40187233-40187283	NB4	blood:	n/a
50	chr15:40187233-40187283	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40183021..40186569-chr15:40187372..40191389,4	K562	blood:
2	chr15:40183021..40186569-chr15:40187372..40191389,4	K562	blood:

No data

Variant related genes	Relation type
GPR176	TF binding region
GPR176	CpG island

Extended variants
information (count: 106 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536428080	chr15:40185855-40185856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553301005	chr15:40185879-40185880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573192372	chr15:40185907-40185908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539279803	chr15:40185946-40185947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557472305	chr15:40185955-40185956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577539092	chr15:40185961-40185962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543188105	chr15:40185974-40185975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563349930	chr15:40185977-40185978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7495531	chr15:40185979-40185980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576360752	chr15:40186044-40186045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573928512	chr15:40186058-40186059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542833170	chr15:40186082-40186083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559547808	chr15:40186092-40186093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528376998	chr15:40186124-40186125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545258320	chr15:40186137-40186138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565147809	chr15:40186139-40186140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530922170	chr15:40186172-40186173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28497158	chr15:40186236-40186237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71132124	chr15:40186276-40186277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531827907	chr15:40186277-40186278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374885920	chr15:40186406-40186407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550692677	chr15:40186421-40186422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7172058	chr15:40186472-40186473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550230214	chr15:40186494-40186495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7172204	chr15:40186499-40186500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567420964	chr15:40186521-40186522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565278747	chr15:40186554-40186555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530273238	chr15:40186558-40186559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546800709	chr15:40186630-40186631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs143856265	chr15:40186666-40186667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs538985866	chr15:40186679-40186680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559170278	chr15:40186684-40186685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570518	chr15:40186705-40186706	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537045872	chr15:40186710-40186711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557132645	chr15:40186726-40186727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191381188	chr15:40186750-40186751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566663956	chr15:40186762-40186763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs184328102	chr15:40186782-40186783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553224325	chr15:40186811-40186812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533720925	chr15:40186818-40186819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548683789	chr15:40186826-40186827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377067227	chr15:40186897-40186898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13310507	chr15:40186910-40186911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs13310128	chr15:40186969-40186970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375701396	chr15:40186974-40186975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565168372	chr15:40186981-40186982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs11857731	chr15:40186996-40186997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544193045	chr15:40187014-40187015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188627673	chr15:40187021-40187022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192233637	chr15:40187022-40187023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40162400-40187000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:40180200-40197000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:40180600-40189200	Weak transcription	HSMMtube	muscle
4	chr15:40180800-40188400	Weak transcription	NHDF-Ad	bronchial
5	chr15:40180800-40197200	Weak transcription	Pancreas	Pancrea
6	chr15:40181000-40187800	Weak transcription	NH-A	brain
7	chr15:40181000-40188400	Weak transcription	NHLF	lung
8	chr15:40181000-40188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:40181200-40188400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:40181400-40189000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:40181600-40188400	Weak transcription	HUVEC	blood vessel
12	chr15:40181600-40196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:40181600-40196800	Weak transcription	NHEK	skin
14	chr15:40183400-40189200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:40183800-40188800	Weak transcription	Aorta	Aorta
16	chr15:40184000-40190800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:40184000-40199600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:40185000-40186600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:40185000-40187000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:40185000-40187000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:40185000-40188800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:40185200-40187000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:40185200-40187200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:40185200-40187600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:40185200-40188200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:40185200-40188400	Weak transcription	K562	blood
27	chr15:40185200-40188400	Weak transcription	Osteobl	bone
28	chr15:40185200-40188800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:40185200-40189200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:40185200-40189400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:40185200-40189400	Weak transcription	HSMM	muscle
32	chr15:40185800-40190000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:40186600-40188000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr15:40187000-40187200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:40187000-40187400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr15:40187000-40187400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:40187000-40188000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr15:40187200-40187600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:40187200-40188200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr15:40187400-40190000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr15:40187400-40191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:40187600-40188200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr15:40187600-40190200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:40187800-40191000	Enhancers	NH-A	brain
45	chr15:40188000-40190000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr15:40188000-40194200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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