Variant report

Variant	esv3372741
Chromosome Location	chr15:83665898-83668896
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83518001..83519058-chr15:83668738..83669954,16	MCF-7	breast:
2	chr15:83668024..83670019-chr15:83707664..83709687,2	K562	blood:
3	chr15:83638166..83640481-chr15:83668507..83670942,2	MCF-7	breast:
4	chr15:83668658..83671057-chr15:83678964..83681474,2	K562	blood:
5	chr15:83658098..83660468-chr15:83666992..83669244,2	MCF-7	breast:
6	chr15:83518080..83519016-chr15:83668838..83670098,5	MCF-7	breast:
7	chr15:83418616..83420865-chr15:83666935..83670708,4	MCF-7	breast:
8	chr15:83611228..83613735-chr15:83667947..83669649,2	MCF-7	breast:
9	chr15:83667872..83670020-chr15:83678680..83681172,2	MCF-7	breast:
10	chr15:83253377..83255551-chr15:83668447..83670798,2	MCF-7	breast:
11	chr15:83516534..83519160-chr15:83667420..83668959,2	MCF-7	breast:
12	chr15:83668786..83671012-chr15:83671933..83674427,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103942	chromatin interactions
ENSG00000260608	chromatin interactions
ENSG00000250988	chromatin interactions
ENSG00000169609	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141326642	chr15:83665918-83665919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71412282	chr15:83665967-83665968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527850387	chr15:83665971-83665972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11388099	chr15:83665972-83665973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398119025	chr15:83665981-83665982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547794942	chr15:83666001-83666002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567899913	chr15:83666050-83666051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374900287	chr15:83666161-83666162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369681112	chr15:83666162-83666163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529662921	chr15:83666163-83666164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6603040	chr15:83666243-83666244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575943654	chr15:83666375-83666376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543532634	chr15:83666384-83666385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549790181	chr15:83666412-83666413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8035819	chr15:83666435-83666436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538723952	chr15:83666564-83666565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375083695	chr15:83666573-83666574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565761174	chr15:83666577-83666578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561239746	chr15:83666717-83666718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534770527	chr15:83666745-83666746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554578120	chr15:83666759-83666760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531790256	chr15:83666800-83666801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574667776	chr15:83666814-83666815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542659997	chr15:83666824-83666825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556115777	chr15:83666975-83666976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576163982	chr15:83666999-83667000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549919154	chr15:83667023-83667024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545112009	chr15:83667028-83667029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369916304	chr15:83667171-83667172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373832696	chr15:83667175-83667176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376224700	chr15:83667216-83667217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370349303	chr15:83667584-83667585	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs373903869	chr15:83667594-83667595	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12148692	chr15:83667659-83667660	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs62010161	chr15:83667804-83667805	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183392981	chr15:83667881-83667882	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs140248595	chr15:83667887-83667888	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs147971160	chr15:83667935-83667936	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs571332698	chr15:83667944-83667945	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs111997259	chr15:83667973-83667974	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs111508217	chr15:83667984-83667985	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs377539537	chr15:83668009-83668010	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs187641311	chr15:83668026-83668027	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs561464039	chr15:83668030-83668031	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs191347348	chr15:83668068-83668069	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs549839129	chr15:83668073-83668074	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs182388297	chr15:83668118-83668119	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370502019	chr15:83668146-83668147	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs141790497	chr15:83668211-83668212	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs188278023	chr15:83668289-83668290	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83655400-83675400	Weak transcription	Spleen	Spleen
2	chr15:83655800-83668200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:83655800-83668200	Weak transcription	Brain Angular Gyrus	brain
4	chr15:83655800-83673600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:83655800-83675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:83655800-83679200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:83656000-83668600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:83656000-83669000	Weak transcription	Left Ventricle	heart
9	chr15:83656000-83669000	Weak transcription	Right Atrium	heart
10	chr15:83656000-83675200	Weak transcription	Esophagus	oesophagus
11	chr15:83656200-83668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:83656200-83668600	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:83656200-83668600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:83656200-83668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:83656200-83669000	Weak transcription	Colonic Mucosa	Colon
16	chr15:83656200-83669000	Weak transcription	HMEC	breast
17	chr15:83656200-83669000	Weak transcription	HSMMtube	muscle
18	chr15:83656200-83669000	Weak transcription	NHLF	lung
19	chr15:83656200-83673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:83656200-83677800	Weak transcription	Fetal Brain Male	brain
21	chr15:83656200-83679000	Weak transcription	Right Ventricle	heart
22	chr15:83656400-83668200	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:83656400-83668600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:83656400-83668600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:83656400-83668600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:83656400-83668800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:83656400-83669000	Weak transcription	Fetal Kidney	kidney
28	chr15:83656400-83679200	Weak transcription	Fetal Heart	heart
29	chr15:83656600-83668400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:83656600-83668600	Weak transcription	Brain Substantia Nigra	brain
31	chr15:83656600-83668800	Weak transcription	GM12878-XiMat	blood
32	chr15:83656600-83669000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:83656600-83669000	Weak transcription	Thymus	Thymus
34	chr15:83656600-83674400	Weak transcription	HepG2	liver
35	chr15:83656800-83668800	Weak transcription	Small Intestine	intestine
36	chr15:83657600-83668200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:83657600-83669000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:83657600-83669000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:83657600-83673800	Weak transcription	Fetal Intestine Small	intestine
40	chr15:83657800-83673800	Weak transcription	Brain Germinal Matrix	brain
41	chr15:83658000-83669000	Weak transcription	NHEK	skin
42	chr15:83658000-83673600	Weak transcription	Fetal Brain Female	brain
43	chr15:83658000-83675000	Weak transcription	Lung	lung
44	chr15:83658000-83675200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:83658000-83679000	Weak transcription	Gastric	stomach
46	chr15:83658200-83668000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:83658200-83668200	Weak transcription	K562	blood
48	chr15:83658200-83668600	Weak transcription	Primary T cells from cord blood	blood
49	chr15:83658200-83668600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr15:83658200-83668800	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links