Variant report

Variant	esv3367894
Chromosome Location	chr15:77851247-77854145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77848438..77851266-chr15:77854844..77857960,3	MCF-7	breast:
2	chr15:77851228..77852752-chr15:77859516..77862066,2	K562	blood:
3	chr15:77848268..77851249-chr15:77883793..77885346,2	MCF-7	breast:
4	chr15:77852881..77857213-chr15:77858380..77864202,5	K562	blood:

Variant related genes	Relation type
ENSG00000259420	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560416736	chr15:77851252-77851253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543727247	chr15:77851290-77851291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147456542	chr15:77851292-77851293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200698257	chr15:77851293-77851294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564708129	chr15:77851334-77851335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576736059	chr15:77851393-77851394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571681886	chr15:77851395-77851396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540691673	chr15:77851409-77851410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545784005	chr15:77851434-77851435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559444173	chr15:77851447-77851448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542276214	chr15:77851493-77851494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78361231	chr15:77851494-77851495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549588622	chr15:77851505-77851506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561495858	chr15:77851506-77851507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531286960	chr15:77851520-77851521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2137111	chr15:77851535-77851536	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
17	rs571868998	chr15:77851548-77851549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532493949	chr15:77851557-77851558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146155539	chr15:77851560-77851561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191589580	chr15:77851659-77851660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139100256	chr15:77851673-77851674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368400092	chr15:77851674-77851675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564920533	chr15:77851742-77851743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112752646	chr15:77851747-77851748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554319116	chr15:77851803-77851804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182777067	chr15:77851813-77851814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536866588	chr15:77851820-77851821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146173258	chr15:77851823-77851824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577066081	chr15:77851828-77851829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28740786	chr15:77851845-77851846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188890113	chr15:77851857-77851858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530635218	chr15:77851904-77851905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139022539	chr15:77851921-77851922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149912999	chr15:77851937-77851938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74545682	chr15:77851940-77851941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543661301	chr15:77851953-77851954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565535130	chr15:77851964-77851965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532736397	chr15:77851967-77851968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547387028	chr15:77851972-77851973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78682688	chr15:77851975-77851976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs193226455	chr15:77851977-77851978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12908292	chr15:77851982-77851983	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570071150	chr15:77851984-77851985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537201544	chr15:77851986-77851987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77621051	chr15:77851992-77851993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75605516	chr15:77851996-77851997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369462276	chr15:77852010-77852011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372937245	chr15:77852036-77852037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558481338	chr15:77852037-77852038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566396039	chr15:77852066-77852067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77848000-77855800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:77850000-77855400	Weak transcription	Brain Angular Gyrus	brain
3	chr15:77850000-77855800	Weak transcription	Brain Anterior Caudate	brain
4	chr15:77850200-77855600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:77850200-77857200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:77850200-77857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:77850400-77855600	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:77850600-77859600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:77851200-77851400	Enhancers	Fetal Intestine Large	intestine
10	chr15:77851200-77857200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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