Variant report

Variant	esv2595466
Chromosome Location	chr15:75224476-75225972
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	chr15:74907070..74909700-chr15:75225919..75227772,2	K562	blood:
2	chr15:75219083..75221777-chr15:75225866..75227747,2	K562	blood:
3	chr15:75218179..75219714-chr15:75221927..75224825,2	K562	blood:
4	chr15:75126487..75129177-chr15:75225564..75229328,3	K562	blood:
5	chr15:75223447..75226028-chr15:75229839..75232204,2	MCF-7	breast:
6	chr15:75184495..75186934-chr15:75223439..75225977,2	K562	blood:
7	chr15:75210535..75212443-chr15:75223416..75224933,2	MCF-7	breast:
8	chr15:75218199..75220881-chr15:75223418..75226005,3	MCF-7	breast:
9	chr15:75222363..75224645-chr15:75245506..75247062,2	K562	blood:
10	chr15:75199294..75201030-chr15:75224343..75226069,2	MCF-7	breast:
11	chr15:75198406..75199931-chr15:75225105..75227266,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260919	chromatin interactions
ENSG00000179335	chromatin interactions
ENSG00000178741	chromatin interactions
ENSG00000178761	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148958672	chr15:75224536-75224537	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530142219	chr15:75224537-75224538	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11637678	chr15:75224543-75224544	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372688327	chr15:75224573-75224574	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35623937	chr15:75224586-75224587	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563549714	chr15:75224606-75224607	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567990730	chr15:75224681-75224682	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190748112	chr15:75224696-75224697	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs58883034	chr15:75224698-75224699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs397962934	chr15:75224700-75224701	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549689958	chr15:75224726-75224727	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571092310	chr15:75224795-75224796	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11072516	chr15:75224810-75224811	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs377302414	chr15:75224833-75224834	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530666467	chr15:75224922-75224923	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547172324	chr15:75224924-75224925	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565721946	chr15:75224974-75224975	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535973910	chr15:75224993-75224994	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs76376765	chr15:75225054-75225055	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182607733	chr15:75225076-75225077	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554513753	chr15:75225077-75225078	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539424520	chr15:75225089-75225090	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552755751	chr15:75225121-75225122	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112095474	chr15:75225186-75225187	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537725849	chr15:75225194-75225195	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559334696	chr15:75225225-75225226	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545913609	chr15:75225254-75225255	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577510336	chr15:75225259-75225260	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541594156	chr15:75225289-75225290	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553303410	chr15:75225307-75225308	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs8042694	chr15:75225415-75225416	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs138459765	chr15:75225433-75225434	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs8042291	chr15:75225440-75225441	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563675570	chr15:75225482-75225483	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11355603	chr15:75225490-75225491	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530845148	chr15:75225497-75225498	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs76118915	chr15:75225584-75225585	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76525381	chr15:75225585-75225586	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75491760	chr15:75225589-75225590	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs576057802	chr15:75225663-75225664	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575172160	chr15:75225671-75225672	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564882445	chr15:75225704-75225705	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs4886638	chr15:75225729-75225730	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142190767	chr15:75225750-75225751	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77331065	chr15:75225751-75225752	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201572149	chr15:75225757-75225758	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200940266	chr15:75225759-75225760	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200608897	chr15:75225760-75225761	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547528700	chr15:75225761-75225762	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201478407	chr15:75225771-75225772	Weak transcription Strong transcription Enhancers Active TSS	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:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75199600-75229400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75201000-75224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:75202600-75224800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:75202600-75225000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr15:75203000-75224600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:75203800-75224600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:75204000-75224600	Strong transcription	Liver	Liver
8	chr15:75204000-75224600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:75204000-75224800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:75204000-75224800	Strong transcription	Fetal Thymus	thymus
11	chr15:75204000-75228400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:75204400-75224600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr15:75204600-75229200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:75206800-75224600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:75207000-75225800	Strong transcription	Hela-S3	cervix
16	chr15:75207800-75227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:75209200-75224600	Strong transcription	Adipose Nuclei	Adipose
18	chr15:75209400-75224600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:75212400-75229600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:75212600-75229200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr15:75212800-75226000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:75213200-75227000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:75213200-75227000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:75213400-75224600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:75213400-75225000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:75213600-75227600	Weak transcription	Psoas Muscle	Psoas
27	chr15:75217400-75229400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr15:75219000-75225000	Strong transcription	K562	blood
29	chr15:75220200-75227400	Weak transcription	Right Ventricle	heart
30	chr15:75221400-75226000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:75221400-75226000	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:75221400-75229800	Weak transcription	Spleen	Spleen
33	chr15:75221600-75225800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:75221600-75226000	Weak transcription	Primary T cells from cord blood	blood
35	chr15:75221600-75226000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:75221600-75226200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:75221600-75226200	Weak transcription	Small Intestine	intestine
38	chr15:75221600-75227200	Weak transcription	Brain Anterior Caudate	brain
39	chr15:75221600-75227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr15:75221600-75227400	Weak transcription	Brain Angular Gyrus	brain
41	chr15:75221600-75228000	Weak transcription	Fetal Brain Male	brain
42	chr15:75221600-75228600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr15:75221600-75229200	Weak transcription	Fetal Kidney	kidney
44	chr15:75221600-75229200	Weak transcription	HSMMtube	muscle
45	chr15:75221600-75229400	Weak transcription	Aorta	Aorta
46	chr15:75221600-75229400	Weak transcription	Ovary	ovary
47	chr15:75221600-75229600	Weak transcription	Gastric	stomach
48	chr15:75221800-75226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:75221800-75228600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:75221800-75228800	Weak transcription	Fetal Brain Female	brain

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