Variant report

Variant	esv3364772
Chromosome Location	chr15:75289575-75289985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75289096..75291038-chr15:75311135..75313518,2	K562	blood:
2	chr15:75249528..75251223-chr15:75287946..75289828,2	K562	blood:
3	chr15:75274950..75276613-chr15:75287594..75290045,3	K562	blood:
4	chr15:75286200..75292858-chr15:75303462..75309796,11	MCF-7	breast:
5	chr15:75287456..75290010-chr15:75314463..75316098,2	K562	blood:
6	chr15:75289676..75292332-chr15:75492915..75494669,2	MCF-7	breast:
7	chr15:75275080..75277543-chr15:75287594..75290421,2	K562	blood:

Variant related genes	Relation type
ENSG00000199580	chromatin interactions
ENSG00000178718	chromatin interactions
ENSG00000167173	chromatin interactions
ENSG00000260483	chromatin interactions
ENSG00000138621	chromatin interactions
ENSG00000198794	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574319950	chr15:75289609-75289610	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs190211118	chr15:75289618-75289619	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs146637446	chr15:75289625-75289626	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs140759758	chr15:75289637-75289638	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs532962027	chr15:75289687-75289688	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs545881732	chr15:75289689-75289690	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs144614375	chr15:75289691-75289692	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs572782302	chr15:75289697-75289698	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs3812945	chr15:75289722-75289723	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs562343598	chr15:75289767-75289768	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs529529558	chr15:75289781-75289782	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs182841337	chr15:75289830-75289831	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs185872249	chr15:75289831-75289832	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs76089273	chr15:75289884-75289885	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs11858208	chr15:75289944-75289945	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs566615094	chr15:75289958-75289959	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs3812944	chr15:75289965-75289966	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191167890	chr15:75289968-75289969	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75286600-75289600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:75287200-75289800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:75287400-75290000	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr15:75288200-75290000	Enhancers	Lung	lung
5	chr15:75288200-75290200	Enhancers	Spleen	Spleen
6	chr15:75288400-75289800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr15:75288400-75289800	Flanking Active TSS	Pancreas	Pancrea
8	chr15:75288600-75289600	Weak transcription	Esophagus	oesophagus
9	chr15:75288600-75289800	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr15:75288600-75290000	Bivalent Enhancer	HUVEC	blood vessel
11	chr15:75288800-75289600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:75288800-75289800	Enhancers	Right Ventricle	heart
13	chr15:75288800-75290000	Flanking Active TSS	Fetal Brain Female	brain
14	chr15:75288800-75290000	Enhancers	Gastric	stomach
15	chr15:75288800-75290000	Weak transcription	Left Ventricle	heart
16	chr15:75289000-75290000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr15:75289000-75291000	Weak transcription	Fetal Intestine Large	intestine
18	chr15:75289000-75315800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:75289200-75289600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr15:75289200-75289800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr15:75289200-75289800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr15:75289200-75290000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:75289200-75290000	Enhancers	HepG2	liver
24	chr15:75289200-75290200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:75289200-75290400	Enhancers	Brain Anterior Caudate	brain
26	chr15:75289400-75289600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:75289400-75289600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr15:75289400-75289600	Enhancers	Brain Hippocampus Middle	brain
29	chr15:75289400-75289600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr15:75289400-75289600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr15:75289400-75289800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:75289400-75289800	Active TSS	Brain Angular Gyrus	brain
33	chr15:75289400-75289800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:75289400-75289800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:75289400-75289800	Enhancers	Fetal Lung	lung
36	chr15:75289400-75289800	Enhancers	Right Atrium	heart
37	chr15:75289400-75289800	Weak transcription	Small Intestine	intestine
38	chr15:75289400-75290000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:75289400-75290200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:75289400-75291000	Weak transcription	Fetal Intestine Small	intestine
41	chr15:75289400-75291400	Enhancers	Fetal Brain Male	brain
42	chr15:75289400-75299600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:75289400-75305000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:75289400-75305000	Weak transcription	Brain Substantia Nigra	brain
45	chr15:75289400-75305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:75289400-75315400	Weak transcription	Fetal Kidney	kidney
47	chr15:75289600-75289800	Enhancers	Primary hematopoietic stem cells	blood
48	chr15:75289600-75289800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:75289600-75289800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr15:75289600-75289800	Active TSS	Brain Inferior Temporal Lobe	brain

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