Variant report

Variant	esv13368
Chromosome Location	chr15:51705468-51735025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:51715479-51715733	K562	blood:	n/a	n/a
2	BRCA1	chr15:51717119-51717187	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr15:51715524-51716064	K562	blood:	n/a	n/a
4	CEBPB	chr15:51719306-51719481	HepG2	liver:	n/a	n/a
5	CEBPB	chr15:51718513-51718854	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr15:51723507-51723625	HepG2	liver:	n/a	chr15:51723548-51723559
7	CEBPB	chr15:51723485-51723691	K562	blood:	n/a	chr15:51723548-51723559
8	CEBPB	chr15:51716939-51717240	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr15:51717910-51718114	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr15:51716856-51717403	MCF-7	breast:	n/a	n/a
11	CEBPB	chr15:51723429-51723618	IMR90	lung:	n/a	chr15:51723548-51723559
12	CTCF	chr15:51733785-51733862	Fibrobl	skin:	n/a	n/a
13	CTCF	chr15:51730818-51730860	LNCaP	prostate:	n/a	n/a
14	CTCF	chr15:51721407-51721462	GM13976	blood:	n/a	n/a
15	CTCF	chr15:51707999-51708149	Lung_OC	lung:	n/a	n/a
16	CTCF	chr15:51717154-51717199	Spleen_OC	spleen:	n/a	n/a
17	E2F4	chr15:51718869-51719069	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr15:51716934-51717415	MCF-7	breast:	n/a	n/a
19	EP300	chr15:51717849-51718364	MCF-7	breast:	n/a	n/a
20	EP300	chr15:51715984-51716050	GM12878	blood:	n/a	n/a
21	EP300	chr15:51716891-51717479	MCF-7	breast:	n/a	n/a
22	ESR1	chr15:51717036-51717407	T-47D	breast:	n/a	n/a
23	ESR1	chr15:51717061-51717388	T-47D	breast:	n/a	n/a
24	ESR1	chr15:51717007-51717352	T-47D	breast:	n/a	n/a
25	FOS	chr15:51718824-51719076	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr15:51717848-51718154	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr15:51718875-51719029	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr15:51718829-51719029	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr15:51717147-51717201	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr15:51718857-51719033	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr15:51717064-51717203	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXA1	chr15:51717006-51717330	T-47D	breast:	n/a	n/a
33	FOXA1	chr15:51717941-51718171	T-47D	breast:	n/a	n/a
34	FOXA1	chr15:51716976-51717316	T-47D	breast:	n/a	n/a
35	FOXA2	chr15:51714782-51715239	A549	lung:	n/a	n/a
36	FOXA2	chr15:51714709-51715324	A549	lung:	n/a	n/a
37	FOXM1	chr15:51716762-51717629	MCF-7	breast:	n/a	n/a
38	FOXM1	chr15:51717722-51718547	MCF-7	breast:	n/a	n/a
39	GATA1	chr15:51720568-51721105	K562	blood:	n/a	n/a
40	GATA3	chr15:51717959-51718209	T-47D	breast:	n/a	n/a
41	GATA3	chr15:51716984-51717552	MCF-7	breast:	n/a	n/a
42	GATA3	chr15:51717857-51718407	MCF-7	breast:	n/a	n/a
43	GATA3	chr15:51716981-51717352	T-47D	breast:	n/a	n/a
44	GATA3	chr15:51716704-51718812	MCF-7	breast:	n/a	n/a
45	HCFC1	chr15:51715556-51715709	K562	blood:	n/a	n/a
46	JUND	chr15:51718950-51719030	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr15:51715582-51715775	K562	blood:	n/a	n/a
48	JUND	chr15:51716870-51717460	MCF-7	breast:	n/a	n/a
49	JUND	chr15:51717115-51717221	HepG2	liver:	n/a	n/a
50	JUND	chr15:51716946-51717290	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:51690075..51690907-chr15:51716851..51717682,2	MCF-7	breast:
2	chr15:51727549..51728106-chr5:174151015..174151699,2	MCF-7	breast:
3	chr15:51734979..51737066-chr15:51741109..51742979,2	MCF-7	breast:
4	chr15:51734735..51737717-chr15:51738813..51740698,2	MCF-7	breast:
5	chr15:51716051..51718923-chr15:51836629..51839391,2	K562	blood:
6	chr15:51703226..51705679-chr15:51790257..51792608,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLDN-3	chr15:51706294-51706397	ENSG00000259678.1

No data

Variant related genes	Relation type
ENSG00000259678	TF binding region
ENSG00000120149	chromatin interactions
ENSG00000104093	chromatin interactions

Extended variants
information (count: 999 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:999 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532014740	chr15:51705503-51705504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147644747	chr15:51705531-51705532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566722636	chr15:51705627-51705628	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs527502694	chr15:51705683-51705684	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148907838	chr15:51705716-51705717	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370162656	chr15:51705737-51705738	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560830997	chr15:51705799-51705800	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531531010	chr15:51705842-51705843	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549365396	chr15:51705851-51705852	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558897684	chr15:51705860-51705861	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571198600	chr15:51705863-51705864	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190441717	chr15:51705877-51705878	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180888263	chr15:51705945-51705946	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567027623	chr15:51705950-51705951	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534409900	chr15:51705966-51705967	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2445754	chr15:51705986-51705987	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534198414	chr15:51706004-51706005	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2445755	chr15:51706015-51706016	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531910053	chr15:51706031-51706032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80251493	chr15:51706057-51706058	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550239193	chr15:51706064-51706065	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78658893	chr15:51706110-51706111	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577960342	chr15:51706139-51706140	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539093594	chr15:51706142-51706143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377670235	chr15:51706174-51706175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553988615	chr15:51706187-51706188	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188271193	chr15:51706210-51706211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181369522	chr15:51706256-51706257	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571983512	chr15:51706285-51706286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56084584	chr15:51706309-51706310	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs560797639	chr15:51706333-51706334	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs554211579	chr15:51706342-51706343	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs72729243	chr15:51706358-51706359	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs185644489	chr15:51706442-51706443	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536385485	chr15:51706482-51706483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78894577	chr15:51706485-51706486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376816708	chr15:51706486-51706487	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191655575	chr15:51706508-51706509	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181701224	chr15:51706550-51706551	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549655888	chr15:51706578-51706579	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148028969	chr15:51706585-51706586	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529861576	chr15:51706590-51706591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543588085	chr15:51706592-51706593	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374570335	chr15:51706606-51706607	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62018075	chr15:51706607-51706608	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13379805	chr15:51706635-51706636	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187198719	chr15:51706636-51706637	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76850206	chr15:51706646-51706647	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550226998	chr15:51706663-51706664	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62018076	chr15:51706668-51706669	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51688800-51708600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:51689600-51707000	Weak transcription	Adipose Nuclei	Adipose
3	chr15:51696400-51706200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:51698200-51706200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:51698200-51709600	Weak transcription	Brain Angular Gyrus	brain
6	chr15:51698400-51705600	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:51698400-51708400	Weak transcription	Brain Anterior Caudate	brain
8	chr15:51698600-51706000	Weak transcription	Brain Substantia Nigra	brain
9	chr15:51702800-51705600	Weak transcription	Placenta	Placenta
10	chr15:51703800-51705800	Weak transcription	Aorta	Aorta
11	chr15:51704400-51706400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:51704800-51705800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr15:51705400-51706000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr15:51705600-51705800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr15:51705600-51705800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr15:51705600-51705800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr15:51705600-51705800	ZNF genes & repeats	Placenta	Placenta
18	chr15:51705600-51706000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr15:51705600-51706200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:51705600-51706200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:51705600-51707400	Strong transcription	Brain Hippocampus Middle	brain
22	chr15:51705800-51707200	Strong transcription	Aorta	Aorta
23	chr15:51705800-51707200	Strong transcription	Placenta	Placenta
24	chr15:51705800-51708000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:51705800-51708200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:51705800-51708200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:51706000-51706200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:51706000-51706800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:51706000-51707400	Strong transcription	Brain Substantia Nigra	brain
30	chr15:51706000-51708200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:51706000-51708200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:51706000-51708200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:51706200-51707200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr15:51706200-51707200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr15:51706200-51708200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:51706200-51708200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:51706600-51706800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:51706600-51707400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:51707200-51709400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:51707200-51710200	Weak transcription	Aorta	Aorta
41	chr15:51707200-51716600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:51707200-51738800	Weak transcription	Placenta	Placenta
43	chr15:51707400-51721400	Weak transcription	Brain Substantia Nigra	brain
44	chr15:51707400-51740200	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:51708000-51709000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr15:51708200-51708600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:51708200-51708800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:51708200-51708800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr15:51708200-51709000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr15:51708200-51709000	Enhancers	H9 Cell Line	embryonic stem cell

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