Variant report

Variant	esv3446241
Chromosome Location	chr15:42445660-42448658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42445910..42447999-chr15:42452272..42454986,2	K562	blood:
2	chr15:42444865..42447535-chr15:42448992..42450632,2	K562	blood:
3	chr15:42448110..42450231-chr15:42456166..42458018,2	MCF-7	breast:
4	chr15:42444314..42447262-chr15:42447408..42450681,4	K562	blood:
5	chr15:42440587..42442217-chr15:42443778..42446321,2	K562	blood:
6	chr15:42429960..42432547-chr15:42445427..42447652,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168907	chromatin interactions
ENSG00000166887	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs570169225	chr15:42445662-42445663	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs681029	chr15:42445679-42445680	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377755144	chr15:42445695-42445696	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs624841	chr15:42445724-42445725	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373028006	chr15:42445771-42445772	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371489882	chr15:42445779-42445780	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374304057	chr15:42445793-42445794	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115750855	chr15:42445797-42445798	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200114279	chr15:42445806-42445807	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140734223	chr15:42445827-42445828	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534770676	chr15:42445835-42445836	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577924021	chr15:42445839-42445840	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375021460	chr15:42445854-42445855	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545802488	chr15:42445856-42445857	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150082965	chr15:42445860-42445861	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562769081	chr15:42445868-42445869	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531488177	chr15:42445869-42445870	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369203056	chr15:42445878-42445879	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561544535	chr15:42445887-42445888	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527391396	chr15:42445904-42445905	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547040207	chr15:42445917-42445918	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200036658	chr15:42445931-42445932	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs561683579	chr15:42445970-42445971	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139967658	chr15:42445980-42445981	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1624183	chr15:42445987-42445988	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570354542	chr15:42446015-42446016	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536152073	chr15:42446029-42446030	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs76841924	chr15:42446034-42446035	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192533413	chr15:42446090-42446091	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149842118	chr15:42446104-42446105	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558204804	chr15:42446118-42446119	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs622714	chr15:42446158-42446159	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146399528	chr15:42446168-42446169	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs678778	chr15:42446208-42446209	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184760880	chr15:42446209-42446210	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139653003	chr15:42446226-42446227	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs372713238	chr15:42446269-42446270	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113662243	chr15:42446270-42446271	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369945871	chr15:42446272-42446273	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs202035374	chr15:42446273-42446274	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540782566	chr15:42446311-42446312	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs377710099	chr15:42446312-42446313	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564240470	chr15:42446341-42446342	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532864509	chr15:42446356-42446357	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs677895	chr15:42446362-42446363	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201349237	chr15:42446373-42446374	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs142898794	chr15:42446396-42446397	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs677845	chr15:42446398-42446399	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138153111	chr15:42446415-42446416	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549651862	chr15:42446441-42446442	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42436000-42452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:42439400-42451200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:42439400-42451800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:42439600-42448600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr15:42441200-42450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr15:42441600-42446200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:42441800-42451000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:42442600-42447000	Enhancers	Esophagus	oesophagus
9	chr15:42442600-42447400	Weak transcription	Spleen	Spleen
10	chr15:42443400-42447600	Enhancers	Gastric	stomach
11	chr15:42443600-42445800	Enhancers	Left Ventricle	heart
12	chr15:42443600-42445800	Enhancers	Lung	lung
13	chr15:42443600-42445800	Enhancers	Psoas Muscle	Psoas
14	chr15:42443600-42447000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:42443600-42447600	Enhancers	Colonic Mucosa	Colon
16	chr15:42443800-42446400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr15:42443800-42448000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:42444000-42451600	Weak transcription	HUVEC	blood vessel
19	chr15:42444200-42445800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr15:42444400-42446400	Strong transcription	Fetal Intestine Small	intestine
21	chr15:42444400-42446600	Weak transcription	Fetal Thymus	thymus
22	chr15:42444400-42447000	Weak transcription	Fetal Kidney	kidney
23	chr15:42444400-42450400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:42444600-42448200	Weak transcription	HSMMtube	muscle
25	chr15:42444600-42450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:42444800-42446600	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:42444800-42447000	Weak transcription	Fetal Lung	lung
28	chr15:42444800-42449800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:42444800-42450200	Weak transcription	Brain Substantia Nigra	brain
30	chr15:42444800-42450200	Weak transcription	HSMM	muscle
31	chr15:42444800-42450600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:42444800-42450600	Weak transcription	Brain Germinal Matrix	brain
33	chr15:42444800-42451000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:42444800-42451000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:42444800-42451200	Weak transcription	Aorta	Aorta
36	chr15:42445000-42446000	Weak transcription	Right Ventricle	heart
37	chr15:42445000-42446400	Weak transcription	HMEC	breast
38	chr15:42445000-42446600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:42445000-42446600	Weak transcription	Fetal Heart	heart
40	chr15:42445000-42446600	Weak transcription	NHEK	skin
41	chr15:42445000-42449800	Weak transcription	Brain Anterior Caudate	brain
42	chr15:42445000-42450000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:42445000-42450000	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:42445000-42450200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:42445000-42451400	Weak transcription	Brain Angular Gyrus	brain
46	chr15:42445200-42446200	Enhancers	Stomach Mucosa	stomach
47	chr15:42445200-42446600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:42445400-42447000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr15:42445400-42451000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:42445400-42451000	Weak transcription	Right Atrium	heart

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