Variant report

Variant	esv15453
Chromosome Location	chr15:51072875-51086217
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	CEBPB	chr15:51078632-51079087	MCF-7	breast:	n/a	chr15:51078837-51078848
2	CEBPB	chr15:51081849-51082197	HepG2	liver:	n/a	chr15:51082025-51082036
3	CEBPB	chr15:51078667-51079024	HepG2	liver:	n/a	chr15:51078837-51078848
4	CEBPB	chr15:51078645-51079022	MCF-7	breast:	n/a	chr15:51078837-51078848
5	CEBPB	chr15:51078681-51078985	IMR90	lung:	n/a	chr15:51078837-51078848
6	CEBPB	chr15:51078691-51078980	K562	blood:	n/a	chr15:51078837-51078848
7	CEBPB	chr15:51081974-51082075	H1-hESC	embryonic stem cell:	n/a	chr15:51082025-51082036
8	CEBPB	chr15:51078656-51079006	A549	lung:	n/a	chr15:51078837-51078848
9	CEBPB	chr15:51081996-51082187	A549	lung:	n/a	chr15:51082025-51082036
10	CEBPB	chr15:51081952-51082181	K562	blood:	n/a	chr15:51082025-51082036
11	CEBPB	chr15:51081812-51082212	MCF-7	breast:	n/a	chr15:51082025-51082036
12	CEBPB	chr15:51078697-51079004	Hela-S3	cervix:	n/a	chr15:51078837-51078848
13	CTCF	chr15:51077204-51077208	GM13976	blood:	n/a	n/a
14	CTCF	chr15:51082313-51082348	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr15:51082077-51082172	HepG2	liver:	n/a	n/a
16	CTCF	chr15:51082349-51082351	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr15:51077121-51077198	GM13976	blood:	n/a	n/a
18	E2F4	chr15:51078620-51078818	MCF10A-Er-Src	breast:	n/a	n/a
19	FOSL2	chr15:51079052-51079554	SK-N-SH	brain:	n/a	n/a
20	JUND	chr15:51079141-51079356	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAFF	chr15:51082310-51082448	HepG2	liver:	n/a	chr15:51082367-51082385
22	MAFK	chr15:51082330-51082338	K562	blood:	n/a	n/a
23	MAFK	chr15:51083429-51083706	HepG2	liver:	n/a	n/a
24	MAFK	chr15:51082260-51082517	HepG2	liver:	n/a	chr15:51082368-51082383
25	MAFK	chr15:51082312-51082467	HepG2	liver:	n/a	chr15:51082368-51082383
26	MYC	chr15:51083411-51083513	H1-hESC	embryonic stem cell:	n/a	n/a
27	NFYB	chr15:51076516-51076676	GM12878	blood:	n/a	n/a
28	NFYB	chr15:51085280-51085480	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:51074434-51074451	ProgFib	skin:	n/a	n/a
30	TEAD4	chr15:51079156-51079496	HCT-116	colon:	n/a	chr15:51079282-51079291
31	USF1	chr15:51085424-51085592	K562	blood:	n/a	n/a
32	ZNF384	chr15:51084513-51084744	K562	blood:	n/a	n/a
33	ZNF384	chr15:51079948-51079953	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51056364..51059035-chr15:51076545..51079419,2	K562	blood:
2	chr15:51069319..51071729-chr15:51072874..51075260,2	MCF-7	breast:
3	chr15:51083211..51087261-chr15:51087532..51090501,5	MCF-7	breast:
4	chr15:51056441..51059423-chr15:51081156..51083300,2	K562	blood:
5	chr15:51078949..51079824-chr17:29885828..29886337,2	MCF-7	breast:
6	chr15:51059872..51062621-chr15:51075621..51077496,2	MCF-7	breast:
7	chr15:51075505..51077245-chr15:51077633..51079343,2	MCF-7	breast:
8	chr15:51075505..51077245-chr15:51077633..51079343,2	MCF-7	breast:
9	chr15:51080266..51082238-chr17:56734970..56736664,2	MCF-7	breast:
10	chr15:51070419..51071973-chr15:51077172..51080118,2	MCF-7	breast:
11	chr15:51055359..51059302-chr15:51076639..51080808,6	MCF-7	breast:
12	chr15:51057652..51059901-chr15:51083890..51085609,2	K562	blood:
13	chr15:51057579..51059770-chr15:51078366..51080013,2	K562	blood:
14	chr15:51055876..51059708-chr15:51082487..51085747,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241130	TF binding region
ENSG00000138600	chromatin interactions

Extended variants
information (count: 478 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7163971	chr15:51072887-51072888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537754748	chr15:51072888-51072889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189604342	chr15:51072909-51072910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142417140	chr15:51072913-51072914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571865531	chr15:51072932-51072933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111458714	chr15:51072942-51072943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150029455	chr15:51073006-51073007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571172683	chr15:51073042-51073043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535986196	chr15:51073083-51073084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192234967	chr15:51073097-51073098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145370901	chr15:51073101-51073102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553783026	chr15:51073117-51073118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537330984	chr15:51073151-51073152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148734571	chr15:51073179-51073180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576620596	chr15:51073201-51073202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572208709	chr15:51073240-51073241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4351992	chr15:51073245-51073246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552754916	chr15:51073279-51073280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386783919	chr15:51073416-51073417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572181547	chr15:51073422-51073423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184070358	chr15:51073511-51073512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561310467	chr15:51073550-51073551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188416008	chr15:51073560-51073561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181579204	chr15:51073562-51073563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554677376	chr15:51073615-51073616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565536145	chr15:51073704-51073705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542700513	chr15:51073712-51073713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149912099	chr15:51073759-51073760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370122599	chr15:51073760-51073761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373111778	chr15:51073761-51073762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185677615	chr15:51073767-51073768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547981697	chr15:51073780-51073781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566291328	chr15:51073800-51073801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199742458	chr15:51073848-51073849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367870855	chr15:51073858-51073859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529782034	chr15:51073920-51073921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548008548	chr15:51073922-51073923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189971857	chr15:51073937-51073938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11070813	chr15:51073972-51073973	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551767824	chr15:51073973-51073974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182558882	chr15:51073980-51073981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34910039	chr15:51073998-51073999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534628358	chr15:51074131-51074132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542150490	chr15:51074157-51074158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552718440	chr15:51074170-51074171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2414058	chr15:51074199-51074200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs536745415	chr15:51074286-51074287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369217659	chr15:51074289-51074290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575919648	chr15:51074309-51074310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73399469	chr15:51074310-51074311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51069600-51073000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:51070600-51075000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:51072600-51073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:51073000-51075600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr15:51073000-51076000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr15:51073200-51073400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:51073400-51076400	Enhancers	Fetal Heart	heart
8	chr15:51074000-51074200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:51074000-51074600	Enhancers	K562	blood
10	chr15:51074200-51074400	Enhancers	Psoas Muscle	Psoas
11	chr15:51074400-51075200	Enhancers	Colonic Mucosa	Colon
12	chr15:51074400-51075800	Enhancers	Small Intestine	intestine
13	chr15:51074400-51079600	Weak transcription	Psoas Muscle	Psoas
14	chr15:51075000-51075200	Enhancers	Fetal Kidney	kidney
15	chr15:51075000-51075400	Enhancers	Duodenum Mucosa	Duodenum
16	chr15:51075000-51076400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:51075200-51075800	Weak transcription	Fetal Kidney	kidney
18	chr15:51075200-51084200	Weak transcription	Colonic Mucosa	Colon
19	chr15:51075400-51076200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:51075600-51075800	Enhancers	Stomach Smooth Muscle	stomach
21	chr15:51075600-51076200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr15:51075600-51076600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:51075600-51076800	Enhancers	Colon Smooth Muscle	Colon
24	chr15:51075800-51076000	Enhancers	Aorta	Aorta
25	chr15:51075800-51076400	Enhancers	Fetal Kidney	kidney
26	chr15:51075800-51076400	Enhancers	Rectal Smooth Muscle	rectum
27	chr15:51075800-51077400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:51075800-51082000	Weak transcription	Small Intestine	intestine
29	chr15:51076000-51076200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:51076200-51076800	Enhancers	Duodenum Mucosa	Duodenum
31	chr15:51076200-51076800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:51076400-51078200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr15:51076400-51079000	Weak transcription	Fetal Heart	heart
34	chr15:51076600-51076800	Enhancers	Aorta	Aorta
35	chr15:51076600-51077200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr15:51076800-51079000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:51076800-51079200	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:51076800-51079200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:51077000-51077200	Enhancers	Stomach Smooth Muscle	stomach
40	chr15:51077200-51079200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:51078200-51078800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:51078400-51078600	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr15:51078400-51079000	Enhancers	Liver	Liver
44	chr15:51078800-51079200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:51078800-51079200	Enhancers	HepG2	liver
46	chr15:51079000-51079400	Enhancers	Fetal Heart	heart
47	chr15:51079000-51079400	Enhancers	HMEC	breast
48	chr15:51079000-51080200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:51079200-51079400	Enhancers	Colon Smooth Muscle	Colon
50	chr15:51079200-51079400	Enhancers	Duodenum Mucosa	Duodenum

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