Variant report

Variant	esv3404200
Chromosome Location	chr15:75490018-75490576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr15:75490439-75497753	GM12878	blood:	n/a	n/a
2	PML	chr15:75490452-75491645	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a
4	POLR2A	chr15:75490353-75491502	GM18505	blood:	n/a	n/a
5	POLR2A	chr15:75489631-75513671	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:75490572-75491474	GM18951	blood:	n/a	n/a
7	POLR2A	chr15:75490527-75491515	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:75490549-75491513	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:75490146-75492195	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:75490006-75491586	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:75490551-75491434	GM18526	blood:	n/a	n/a
12	POLR2A	chr15:75490510-75491227	GM19193	blood:	n/a	n/a
13	POLR2A	chr15:75490225-75497776	GM12878	blood:	n/a	n/a
14	POU2F2	chr15:75490546-75491550	GM12878	blood:	n/a	chr15:75490941-75490953

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75490372-75490422	SAEC	small airway:	n/a
2	chr15:75490372-75490422	HNPCEpiC	eye:	n/a
3	chr15:75490372-75490422	AG09309	skin:	n/a
4	chr15:75490372-75490422	HCM	heart:	n/a
5	chr15:75490372-75490422	AG10803	skin:	n/a
6	chr15:75490372-75490422	K562	blood:	n/a
7	chr15:75490372-75490422	A549	lung:	n/a
8	chr15:75490372-75490422	HUVEC	blood vessel:	n/a
9	chr15:75490372-75490422	HRE	kidney:	n/a
10	chr15:75490372-75490422	Hela-S3	cervix:	n/a
11	chr15:75490372-75490422	HepG2	liver:	n/a
12	chr15:75490372-75490422	HRPEpiC	eye:	n/a
13	chr15:75490372-75490422	H1-hESC	embryonic stem cell:	embryo
14	chr15:75490372-75490422	NT2-D1	testis:	n/a
15	chr15:75490372-75490422	GM12892	blood:	n/a
16	chr15:75490372-75490422	NH-A	brain:	n/a
17	chr15:75490372-75490422	MCF-7	breast:	n/a
18	chr15:75490372-75490422	GM19239	blood:	n/a
19	chr15:75490372-75490422	HCF	heart:	n/a
20	chr15:75490372-75490422	GM06990	blood:	n/a
21	chr15:75490372-75490422	HPAEpiC	pulmonary alveolar:	n/a
22	chr15:75490372-75490422	HRCEpiC	kidney:	n/a
23	chr15:75490372-75490422	GM12878	blood:	n/a
24	chr15:75490372-75490422	PrEC	prostate:	n/a
25	chr15:75490372-75490422	SK-N-SH	brain:	n/a
26	chr15:75490372-75490422	ProgFib	skin:	n/a
27	chr15:75490372-75490422	HEEpiC	esophagus:	n/a
28	chr15:75490372-75490422	U87	brain:	n/a
29	chr15:75490372-75490422	NB4	blood:	n/a
30	chr15:75490372-75490422	PANC-1	pancreas:	n/a
31	chr15:75490372-75490422	AG04450	lung:	fetal
32	chr15:75490372-75490422	SK-N-MC	brain:	n/a
33	chr15:75490372-75490422	HEK293	kidney:	embryo
34	chr15:75490372-75490422	AoSMC	blood vessel:	n/a
35	chr15:75490372-75490422	AG09319	gingival:	n/a
36	chr15:75490372-75490422	SK-N-SH_RA	brain:	n/a
37	chr15:75490372-75490422	LNCaP	prostate:	n/a
38	chr15:75490372-75490422	Jurkat	blood:	n/a
39	chr15:75490372-75490422	IMR90	lung:	fetal
40	chr15:75490372-75490422	PFSK-1	brain:	n/a
41	chr15:75490372-75490422	HMEC	breast:	n/a
42	chr15:75490372-75490422	ECC-1	luminal epithelium:	n/a
43	chr15:75490372-75490422	BJ	skin:	n/a
44	chr15:75490372-75490422	CMK	blood:	n/a
45	chr15:75490372-75490422	AG04449	skin:	fetal
46	chr15:75490372-75490422	HCPEpiC	choroid plexus:	n/a
47	chr15:75490372-75490422	T-47D	breast:	n/a
48	chr15:75490372-75490422	HAEpiC	amniotic membrane:	n/a
49	chr15:75490372-75490422	MCF10A-Er-Src	breast:	n/a
50	chr15:75490372-75490422	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
2	chr15:75488443..75491201-chr17:56869356..56872036,2	MCF-7	breast:
3	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:

No data

Variant related genes	Relation type
C15orf39	TF binding region
C15orf39	CpG island
ENSG00000167173	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140350280	chr15:75490041-75490042	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201860416	chr15:75490097-75490098	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374954507	chr15:75490098-75490099	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28415421	chr15:75490100-75490101	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554387432	chr15:75490141-75490142	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577536204	chr15:75490197-75490198	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572611164	chr15:75490198-75490199	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539806975	chr15:75490220-75490221	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs8027407	chr15:75490251-75490252	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559752066	chr15:75490308-75490309	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143565378	chr15:75490372-75490373	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528963573	chr15:75490418-75490419	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370657124	chr15:75490439-75490440	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184379784	chr15:75490441-75490442	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116819737	chr15:75490448-75490449	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189089205	chr15:75490462-75490463	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544421825	chr15:75490493-75490494	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148056090	chr15:75490506-75490507	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs55691316	chr15:75490558-75490559	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376148987	chr15:75490559-75490560	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs36062661	chr15:75490561-75490562	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs386383501	chr15:75490566-75490567	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566323121	chr15:75490575-75490576	Weak transcription Enhancers Bivalent Enhancer	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
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75477200-75492600	Weak transcription	Spleen	Spleen
2	chr15:75484200-75491600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:75484200-75492800	Enhancers	Placenta	Placenta
4	chr15:75485600-75491200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:75487000-75491200	Enhancers	Fetal Heart	heart
6	chr15:75487400-75491000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr15:75487600-75490200	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:75487600-75490200	Enhancers	Fetal Intestine Small	intestine
9	chr15:75487800-75493200	Weak transcription	Brain Substantia Nigra	brain
10	chr15:75488000-75490600	Weak transcription	Pancreas	Pancrea
11	chr15:75488000-75493200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:75488200-75490400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:75488200-75491200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:75488200-75491800	Weak transcription	Psoas Muscle	Psoas
15	chr15:75488200-75493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:75488400-75492600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:75488400-75493200	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:75488600-75491200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:75488600-75491200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:75488600-75491200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr15:75488600-75491200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:75488600-75491200	Weak transcription	Lung	lung
23	chr15:75488600-75491400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr15:75488600-75491600	Weak transcription	Colonic Mucosa	Colon
25	chr15:75488600-75491600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:75488600-75492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:75488600-75492200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:75488600-75493400	Weak transcription	Ovary	ovary
29	chr15:75488800-75490400	Weak transcription	GM12878-XiMat	blood
30	chr15:75488800-75490600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr15:75488800-75490600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:75488800-75490800	Weak transcription	Fetal Intestine Large	intestine
33	chr15:75488800-75492000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:75488800-75492800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:75489000-75490600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr15:75489000-75490800	Weak transcription	Hela-S3	cervix
37	chr15:75489000-75491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:75489400-75490200	Enhancers	Stomach Mucosa	stomach
39	chr15:75489400-75491200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:75489600-75490200	Weak transcription	Fetal Thymus	thymus
41	chr15:75489600-75490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:75489800-75490800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:75489800-75491200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:75489800-75492400	Weak transcription	Right Atrium	heart
45	chr15:75489800-75492600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:75489800-75493200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:75490000-75490600	Enhancers	HepG2	liver
48	chr15:75490000-75491000	Weak transcription	Fetal Muscle Leg	muscle
49	chr15:75490000-75491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:75490000-75491600	Weak transcription	Left Ventricle	heart

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