Variant report

Variant	esv3369909
Chromosome Location	chr15:45478544-45478849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
2	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
3	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
4	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
5	chr15:45474753..45476915-chr15:45477928..45479578,2	MCF-7	breast:
6	chr15:45465361..45468029-chr15:45478692..45480743,2	MCF-7	breast:
7	chr15:45471595..45473672-chr15:45478332..45480462,2	MCF-7	breast:
8	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:
9	chr15:45461602..45463661-chr15:45476012..45479858,4	K562	blood:
10	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
11	chr15:45464668..45467281-chr15:45477714..45479302,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259539	chromatin interactions
ENSG00000259932	chromatin interactions
ENSG00000259519	chromatin interactions
ENSG00000260035	chromatin interactions
ENSG00000138606	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554314595	chr15:45478562-45478563	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs111595964	chr15:45478565-45478566	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs1706822	chr15:45478583-45478584	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs566184995	chr15:45478593-45478594	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs7173300	chr15:45478614-45478615	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185030905	chr15:45478649-45478650	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs555390380	chr15:45478656-45478657	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs545232591	chr15:45478659-45478660	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs77686376	chr15:45478661-45478662	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs373503042	chr15:45478663-45478664	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs554956126	chr15:45478700-45478701	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs575897455	chr15:45478721-45478722	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs189891698	chr15:45478751-45478752	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs148637858	chr15:45478794-45478795	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs79791744	chr15:45478801-45478802	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45460000-45478600	Weak transcription	Thymus	Thymus
2	chr15:45466000-45478800	Weak transcription	Right Ventricle	heart
3	chr15:45473200-45480400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:45473600-45478600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:45473800-45478800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr15:45474000-45478600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr15:45475400-45478600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:45475600-45478600	Enhancers	Fetal Muscle Trunk	muscle
9	chr15:45475600-45478800	Weak transcription	Stomach Mucosa	stomach
10	chr15:45475800-45479400	Flanking Active TSS	Fetal Brain Female	brain
11	chr15:45476000-45478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:45476000-45478800	Weak transcription	Left Ventricle	heart
13	chr15:45476000-45480200	Weak transcription	K562	blood
14	chr15:45476200-45479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr15:45476600-45478600	Enhancers	Ovary	ovary
16	chr15:45476600-45479200	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr15:45476800-45478600	Enhancers	Colonic Mucosa	Colon
18	chr15:45476800-45479000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:45476800-45479400	Flanking Active TSS	HepG2	liver
20	chr15:45477200-45478600	Enhancers	Brain Hippocampus Middle	brain
21	chr15:45477200-45478600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:45477200-45478800	Weak transcription	HMEC	breast
23	chr15:45477200-45479600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:45477200-45480400	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr15:45477400-45478600	Enhancers	Brain Angular Gyrus	brain
26	chr15:45477400-45478600	Enhancers	Brain Cingulate Gyrus	brain
27	chr15:45477400-45478800	Enhancers	Spleen	Spleen
28	chr15:45477400-45479000	Enhancers	Dnd41	blood
29	chr15:45477400-45479200	Enhancers	Brain Substantia Nigra	brain
30	chr15:45477400-45479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr15:45477400-45479800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:45477600-45478800	Weak transcription	Gastric	stomach
33	chr15:45477600-45478800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:45477600-45479200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:45477800-45478600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr15:45477800-45478600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr15:45477800-45478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:45477800-45479400	Flanking Active TSS	HSMM	muscle
39	chr15:45477800-45479600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:45477800-45479800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:45478000-45478600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:45478000-45478600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:45478000-45478600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:45478000-45478600	Enhancers	Primary hematopoietic stem cells	blood
45	chr15:45478000-45478600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:45478000-45478600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:45478000-45478600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr15:45478000-45478800	Enhancers	Fetal Intestine Large	intestine
49	chr15:45478000-45478800	Enhancers	Osteobl	bone
50	chr15:45478000-45479000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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