Variant report

Variant	nsv525265
Chromosome Location	chr15:75670079-75692303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:75678270-75678552	GM12878	blood:	n/a	n/a
2	BATF	chr15:75678275-75678440	GM12878	blood:	n/a	n/a
3	BCL11A	chr15:75678263-75678546	GM12878	blood:	n/a	n/a
4	CEBPB	chr15:75689995-75690125	IMR90	lung:	n/a	n/a
5	CEBPB	chr15:75675514-75675600	K562	blood:	n/a	n/a
6	CHD1	chr15:75682573-75682579	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:75680700-75680850	HepG2	liver:	n/a	n/a
8	CTCF	chr15:75680796-75680898	GM12892	blood:	n/a	n/a
9	CTCF	chr15:75680825-75680829	GM19240	blood:	n/a	n/a
10	CTCF	chr15:75671600-75671750	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr15:75685900-75686015	Fibrobl	skin:	n/a	n/a
12	CTCF	chr15:75680823-75680866	MCF-7	breast:	n/a	n/a
13	CTCF	chr15:75680799-75680875	GM12878	blood:	n/a	n/a
14	CTCF	chr15:75680760-75680910	K562	blood:	n/a	n/a
15	CTCF	chr15:75680820-75680862	Hela-S3	cervix:	n/a	n/a
16	EBF1	chr15:75678229-75678674	GM12878	blood:	n/a	n/a
17	EBF1	chr15:75678300-75678549	GM12878	blood:	n/a	n/a
18	ESR1	chr15:75682345-75682632	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr15:75682248-75682630	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr15:75682246-75682739	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr15:75682281-75682736	ECC-1	luminal epithelium:	n/a	n/a
22	FOXA1	chr15:75682119-75682538	ECC-1	luminal epithelium:	n/a	n/a
23	FOXA1	chr15:75682191-75682480	T-47D	breast:	n/a	n/a
24	FOXA1	chr15:75682150-75682367	ECC-1	luminal epithelium:	n/a	n/a
25	FOXA2	chr15:75682038-75682578	A549	lung:	n/a	n/a
26	GATA3	chr15:75670202-75670360	SH-SY5Y	brain:	n/a	n/a
27	HEY1	chr15:75676527-75676772	HepG2	liver:	n/a	n/a
28	HEY1	chr15:75676641-75676784	HepG2	liver:	n/a	n/a
29	IRF3	chr15:75689053-75689123	GM12878	blood:	n/a	n/a
30	IRF4	chr15:75678123-75678538	GM12878	blood:	n/a	n/a
31	MAFF	chr15:75688575-75688727	HepG2	liver:	n/a	n/a
32	MAFK	chr15:75688624-75688684	HepG2	liver:	n/a	n/a
33	MAFK	chr15:75688546-75688685	HepG2	liver:	n/a	n/a
34	MAX	chr15:75682269-75682693	ECC-1	luminal epithelium:	n/a	n/a
35	MEF2A	chr15:75686811-75687152	GM12878	blood:	n/a	chr15:75686969-75686985 chr15:75686965-75686986 chr15:75686965-75686986 chr15:75686972-75686983 chr15:75686969-75686984 chr15:75686971-75686982 chr15:75686965-75686986 chr15:75686970-75686984 chr15:75686972-75686981
36	MTA3	chr15:75678121-75678645	GM12878	blood:	n/a	n/a
37	NFATC1	chr15:75678126-75678602	GM12878	blood:	n/a	n/a
38	NFIC	chr15:75678122-75678673	GM12878	blood:	n/a	n/a
39	NR3C1	chr15:75682403-75682722	ECC-1	luminal epithelium:	n/a	chr15:75682494-75682501
40	PAX5	chr15:75678112-75678663	GM12878	blood:	n/a	chr15:75678387-75678406
41	PAX5	chr15:75678274-75678567	GM12878	blood:	n/a	chr15:75678387-75678406
42	PAX5	chr15:75678253-75678554	GM12878	blood:	n/a	chr15:75678387-75678406
43	PAX5	chr15:75678309-75678519	GM12891	blood:	n/a	chr15:75678387-75678406
44	PAX5	chr15:75678269-75678566	GM12892	blood:	n/a	chr15:75678387-75678406
45	PAX5	chr15:75678298-75678465	GM12878	blood:	n/a	chr15:75678387-75678406
46	PAX5	chr15:75678253-75678564	GM12891	blood:	n/a	chr15:75678387-75678406
47	POLR2A	chr15:75685923-75685959	HepG2	liver:	n/a	n/a
48	POLR2A	chr15:75678286-75678582	GM12892	blood:	n/a	n/a
49	POLR2A	chr15:75685835-75685842	HepG2	liver:	n/a	n/a
50	POLR2A	chr15:75681918-75682051	K562	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75672236..75674114-chr15:75676816..75678967,2	MCF-7	breast:
2	chr15:75688286..75690830-chr15:75692829..75695284,2	K562	blood:
3	chr15:75676884..75680437-chr15:75682722..75686020,4	K562	blood:
4	chr15:75660995..75662598-chr15:75687412..75689086,2	K562	blood:
5	chr15:75674012..75676798-chr15:75678531..75681650,3	K562	blood:
6	chr15:75669231..75671963-chr15:75673071..75675723,3	MCF-7	breast:
7	chr15:75659125..75662428-chr15:75674167..75677201,4	K562	blood:
8	chr15:75682180..75684570-chr15:75743520..75745766,2	K562	blood:
9	chr15:75659125..75661610-chr15:75673799..75675667,2	K562	blood:
10	chr15:75659062..75661181-chr15:75680479..75684245,3	MCF-7	breast:
11	chr15:75661739..75662424-chr15:75673693..75674236,2	MCF-7	breast:
12	chr15:75667630..75669544-chr15:75671089..75672778,2	K562	blood:
13	chr15:75659605..75662163-chr15:75684611..75686539,2	K562	blood:
14	chr15:75661606..75664299-chr15:75683955..75686073,2	MCF-7	breast:
15	chr15:75659033..75662371-chr15:75684053..75687215,4	K562	blood:
16	chr15:75673195..75675877-chr15:75743620..75745869,3	MCF-7	breast:
17	chr15:75660349..75661908-chr15:75683928..75686715,2	MCF-7	breast:
18	chr15:75676884..75680437-chr15:75682722..75686020,4	K562	blood:
19	chr15:75659308..75663624-chr15:75678074..75682949,5	MCF-7	breast:
20	chr15:75658084..75661976-chr15:75687605..75690524,5	MCF-7	breast:
21	chr15:75659279..75662047-chr15:75680944..75683813,3	K562	blood:
22	chr15:75671213..75673361-chr15:75743963..75746267,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEIL1-3	chr15:75680608-75681169	NONHSAT047344

No data

Variant related genes	Relation type
SIN3A	TF binding region
RPL13P4	TF binding region
ENSG00000241890	chromatin interactions
ENSG00000140400	chromatin interactions
ENSG00000169375	chromatin interactions
ENSG00000260274	chromatin interactions

Extended variants
information (count: 809 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9972533	chr15:75670079-75670080	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187046052	chr15:75670120-75670121	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577812915	chr15:75670283-75670284	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538325197	chr15:75670309-75670310	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34466102	chr15:75670358-75670359	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143807125	chr15:75670359-75670360	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547174375	chr15:75670365-75670366	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571930022	chr15:75670376-75670377	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543332544	chr15:75670392-75670393	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114870343	chr15:75670394-75670395	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572257873	chr15:75670422-75670423	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576270250	chr15:75670438-75670439	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191036441	chr15:75670455-75670456	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140649492	chr15:75670469-75670470	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532660948	chr15:75670477-75670478	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183193797	chr15:75670487-75670488	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74391430	chr15:75670512-75670513	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
18	rs530023736	chr15:75670587-75670588	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577652494	chr15:75670596-75670597	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs60510690	chr15:75670662-75670663	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542812662	chr15:75670680-75670681	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs137939990	chr15:75670762-75670763	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149052849	chr15:75670765-75670766	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571318397	chr15:75670800-75670801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112368857	chr15:75670864-75670865	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188081797	chr15:75670866-75670867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28812782	chr15:75670878-75670879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538758940	chr15:75670892-75670893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553563587	chr15:75670893-75670894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565715802	chr15:75670927-75670928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553048232	chr15:75670945-75670946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535862033	chr15:75670999-75671000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554104197	chr15:75671010-75671011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576333101	chr15:75671017-75671018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543681037	chr15:75671018-75671019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569988047	chr15:75671044-75671045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373850789	chr15:75671160-75671161	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61263220	chr15:75671228-75671229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376152078	chr15:75671229-75671230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201056830	chr15:75671249-75671250	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs397969563	chr15:75671250-75671251	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558744012	chr15:75671277-75671278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577353195	chr15:75671335-75671336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541545298	chr15:75671359-75671360	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559591608	chr15:75671462-75671463	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71440233	chr15:75671534-75671535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76744051	chr15:75671547-75671548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542244214	chr15:75671589-75671590	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs145839763	chr15:75671773-75671774	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531652871	chr15:75671793-75671794	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75661600-75682200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75662200-75677600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:75662200-75699200	Strong transcription	Fetal Stomach	stomach
4	chr15:75662200-75715600	Strong transcription	Placenta	Placenta
5	chr15:75662400-75670400	Strong transcription	Fetal Muscle Leg	muscle
6	chr15:75662400-75678800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:75662400-75707600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:75662400-75717000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:75662400-75731400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:75662600-75670600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:75662600-75671800	Weak transcription	Stomach Mucosa	stomach
12	chr15:75662600-75678600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:75662600-75695000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr15:75662600-75707400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:75662600-75708000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:75662600-75708000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:75662600-75708600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:75662600-75722800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:75662800-75670600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:75662800-75682000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:75662800-75709400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:75662800-75723000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:75663000-75670600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr15:75663000-75672400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr15:75663000-75673000	Strong transcription	Fetal Intestine Large	intestine
26	chr15:75663000-75690400	Strong transcription	Hela-S3	cervix
27	chr15:75663000-75695200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:75663000-75707800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:75663000-75708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:75663000-75708200	Strong transcription	Fetal Thymus	thymus
31	chr15:75663000-75708600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:75663000-75709400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr15:75663000-75710000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr15:75663200-75670400	Strong transcription	Osteobl	bone
35	chr15:75663200-75673000	Strong transcription	GM12878-XiMat	blood
36	chr15:75663200-75674400	Strong transcription	A549	lung
37	chr15:75663200-75683200	Strong transcription	Adipose Nuclei	Adipose
38	chr15:75663200-75689000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:75663200-75699600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:75663200-75706600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr15:75663200-75707800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:75663200-75707800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:75663400-75670400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:75663400-75670400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr15:75663400-75670600	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr15:75663400-75673400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr15:75663400-75674400	Strong transcription	HepG2	liver
48	chr15:75663400-75675400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr15:75663400-75677000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:75663400-75682000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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