Variant report

Variant	nsv94497
Chromosome Location	chr15:44385556-44390318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44384733..44389004-chr15:44397743..44401359,3	K562	blood:
2	chr15:44371231..44374212-chr15:44389426..44392259,2	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs183410440	chr15:44385623-44385624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563561765	chr15:44385641-44385642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542425917	chr15:44385695-44385696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561859694	chr15:44385712-44385713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555995099	chr15:44385793-44385794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527390072	chr15:44385832-44385833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547371249	chr15:44385835-44385836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563883500	chr15:44385840-44385841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533075490	chr15:44385841-44385842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2114417	chr15:44385864-44385865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188813595	chr15:44385906-44385907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569594513	chr15:44385927-44385928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191716670	chr15:44385932-44385933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548896184	chr15:44386021-44386022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112876789	chr15:44386059-44386060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28375626	chr15:44386060-44386061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140290533	chr15:44386069-44386070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28480501	chr15:44386084-44386085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147529490	chr15:44386109-44386110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28623028	chr15:44386116-44386117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539820512	chr15:44386119-44386120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556930508	chr15:44386131-44386132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576796503	chr15:44386136-44386137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542485355	chr15:44386152-44386153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562093573	chr15:44386203-44386204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114917741	chr15:44386241-44386242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540737462	chr15:44386247-44386248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564132381	chr15:44386268-44386269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532796055	chr15:44386287-44386288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111668525	chr15:44386345-44386346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182774137	chr15:44386368-44386369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113690878	chr15:44386369-44386370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529147758	chr15:44386416-44386417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549165971	chr15:44386436-44386437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372428286	chr15:44386437-44386438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565698276	chr15:44386507-44386508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527806757	chr15:44386508-44386509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150935011	chr15:44386513-44386514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570942704	chr15:44386539-44386540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140675648	chr15:44386584-44386585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539881356	chr15:44386613-44386614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2555374	chr15:44386620-44386621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571801100	chr15:44386654-44386655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562457414	chr15:44386676-44386677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556591901	chr15:44386678-44386679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537376174	chr15:44386679-44386680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77112827	chr15:44386687-44386688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555941714	chr15:44386703-44386704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369180042	chr15:44386716-44386717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567172636	chr15:44386730-44386731	Weak transcription Enhancers	n/a	n/a	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
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	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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Mental retardation	17124404	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44373600-44392800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:44379400-44397400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:44380800-44387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:44381200-44389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:44381200-44394200	Weak transcription	HUVEC	blood vessel
6	chr15:44381800-44400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:44383600-44387400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:44384000-44385600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:44384600-44386400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:44384600-44388800	Weak transcription	Fetal Heart	heart
11	chr15:44384600-44393400	Weak transcription	HSMMtube	muscle
12	chr15:44384800-44387400	Weak transcription	Brain Angular Gyrus	brain
13	chr15:44384800-44387400	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:44384800-44391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:44384800-44393400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:44385000-44385600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:44385000-44386200	Weak transcription	Brain Anterior Caudate	brain
18	chr15:44385000-44386200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:44385000-44386200	Weak transcription	NH-A	brain
20	chr15:44385000-44386200	Weak transcription	NHDF-Ad	bronchial
21	chr15:44385000-44386400	Weak transcription	Osteobl	bone
22	chr15:44385000-44386600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:44385000-44386800	Weak transcription	Brain Substantia Nigra	brain
24	chr15:44385000-44387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:44385000-44388800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:44385000-44391400	Weak transcription	NHLF	lung
27	chr15:44385000-44392800	Weak transcription	HMEC	breast
28	chr15:44385000-44393400	Weak transcription	A549	lung
29	chr15:44385000-44393400	Weak transcription	HSMM	muscle
30	chr15:44385000-44393600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:44385000-44393600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:44385600-44385800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:44385600-44389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:44385800-44393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:44386200-44386600	Enhancers	Brain Cingulate Gyrus	brain
36	chr15:44386200-44386600	Enhancers	Gastric	stomach
37	chr15:44386200-44386800	Enhancers	Brain Anterior Caudate	brain
38	chr15:44386200-44387800	Enhancers	NH-A	brain
39	chr15:44386200-44388200	Enhancers	NHDF-Ad	bronchial
40	chr15:44386400-44386800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:44386400-44387400	Enhancers	Osteobl	bone
42	chr15:44386600-44387000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:44386600-44387600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:44386800-44387000	Enhancers	Brain Substantia Nigra	brain
45	chr15:44386800-44389000	Weak transcription	Brain Anterior Caudate	brain
46	chr15:44386800-44391800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:44387000-44387400	Weak transcription	Brain Substantia Nigra	brain
48	chr15:44387000-44388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:44387400-44388000	Enhancers	Brain Angular Gyrus	brain
50	chr15:44387400-44388000	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links