Variant report

Variant	esv3438648
Chromosome Location	chr15:75323300-75323660
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
2	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
3	chr15:75320936..75323384-chr15:75742999..75744813,2	K562	blood:
4	chr15:75322075..75324448-chr15:75506120..75508117,2	MCF-7	breast:
5	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
6	chr15:75320623..75324392-chr15:75326315..75329283,4	K562	blood:
7	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
8	chr15:75321516..75324460-chr15:75459942..75461573,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169375	chromatin interactions
ENSG00000167173	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568674874	chr15:75323301-75323302	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536104724	chr15:75323360-75323361	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141708830	chr15:75323361-75323362	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192644615	chr15:75323362-75323363	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142931898	chr15:75323364-75323365	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546259026	chr15:75323379-75323380	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs151109217	chr15:75323418-75323419	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572858836	chr15:75323448-75323449	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370642781	chr15:75323538-75323539	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540927984	chr15:75323597-75323598	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559267424	chr15:75323614-75323615	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574380110	chr15:75323615-75323616	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541691230	chr15:75323640-75323641	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12594117	chr15:75323648-75323649	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75316600-75336800	Weak transcription	Fetal Brain Female	brain
2	chr15:75316800-75338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:75317200-75335000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:75318000-75341400	Weak transcription	Brain Germinal Matrix	brain
5	chr15:75320600-75323800	Genic enhancers	Fetal Muscle Trunk	muscle
6	chr15:75321400-75326600	Enhancers	Primary B cells from cord blood	blood
7	chr15:75321600-75324000	Enhancers	Lung	lung
8	chr15:75321600-75324800	Enhancers	HMEC	breast
9	chr15:75321800-75323400	Enhancers	Left Ventricle	heart
10	chr15:75321800-75323400	Enhancers	Ovary	ovary
11	chr15:75321800-75323600	Enhancers	Right Ventricle	heart
12	chr15:75321800-75323800	Enhancers	Esophagus	oesophagus
13	chr15:75321800-75326600	Enhancers	Fetal Thymus	thymus
14	chr15:75322000-75324400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:75322000-75326600	Enhancers	Placenta	Placenta
16	chr15:75322200-75323400	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:75322200-75323400	Enhancers	Right Atrium	heart
18	chr15:75322200-75323400	Genic enhancers	A549	lung
19	chr15:75322200-75323600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:75322200-75323600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr15:75322200-75325000	Enhancers	Primary hematopoietic stem cells	blood
22	chr15:75322200-75327200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr15:75322200-75328200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:75322200-75330200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:75322200-75333400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:75322200-75335400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:75322200-75335400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:75322200-75339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr15:75322400-75323400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr15:75322400-75323600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:75322400-75323800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:75322400-75324200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:75322400-75328000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:75322400-75336800	Weak transcription	Primary T cells from cord blood	blood
35	chr15:75322400-75339200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:75322600-75323400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr15:75322600-75323400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr15:75322600-75323600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:75322600-75324400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:75322600-75324400	Weak transcription	Small Intestine	intestine
41	chr15:75322600-75324600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:75322600-75324800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:75322600-75325000	Strong transcription	HepG2	liver
44	chr15:75322600-75325000	Enhancers	HUVEC	blood vessel
45	chr15:75322600-75326600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr15:75322600-75328400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:75322600-75330200	Weak transcription	NH-A	brain
48	chr15:75322600-75338600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:75322800-75323400	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr15:75322800-75323400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links