Variant report

Variant	nsv569393
Chromosome Location	chr15:49977687-50012256
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50006945..50008892-chr15:50010778..50013290,2	MCF-7	breast:
2	chr11:61828621..61829161-chr15:49986435..49986935,2	MCF-7	breast:
3	chr15:50003699..50006468-chr15:50008293..50011048,2	MCF-7	breast:
4	chr15:49981865..49984668-chr15:49985096..49986866,2	MCF-7	breast:
5	chr15:49977822..49979343-chr15:50042316..50044829,2	MCF-7	breast:
6	chr15:50003699..50006468-chr15:50008293..50011048,2	MCF-7	breast:
7	chr15:49911241..49913441-chr15:49987137..49988926,2	MCF-7	breast:
8	chr15:50004344..50006410-chr15:50007705..50010279,2	K562	blood:
9	chr15:50002798..50005216-chr15:50011124..50013123,2	MCF-7	breast:
10	chr15:50002798..50005216-chr15:50011124..50013123,2	MCF-7	breast:
11	chr15:50004344..50006410-chr15:50007705..50010279,2	K562	blood:
12	chr15:49968518..49970892-chr15:49980860..49984000,3	MCF-7	breast:
13	chr15:49912918..49914699-chr15:50001651..50003780,2	MCF-7	breast:
14	chr15:49981865..49984668-chr15:49985096..49986866,2	MCF-7	breast:
15	chr15:50006945..50008892-chr15:50010778..50013290,2	MCF-7	breast:
16	chr15:49983107..49986067-chr15:49987046..49989205,2	MCF-7	breast:
17	chr15:49983107..49986067-chr15:49987046..49989205,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104047	chromatin interactions
ENSG00000166262	chromatin interactions

Extended variants
information (count: 1067 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1067 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs692008	chr15:49977687-49977688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368673075	chr15:49977692-49977693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71467695	chr15:49977702-49977703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564414852	chr15:49977714-49977715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528827422	chr15:49977720-49977721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546563673	chr15:49977796-49977797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567967929	chr15:49977817-49977818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535507707	chr15:49977821-49977822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190856585	chr15:49977835-49977836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541121252	chr15:49977850-49977851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569010333	chr15:49977858-49977859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539622488	chr15:49977907-49977908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142382031	chr15:49977908-49977909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183123110	chr15:49977950-49977951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs691974	chr15:49977951-49977952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188010488	chr15:49977973-49977974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574761140	chr15:49977988-49977989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542273827	chr15:49978006-49978007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147967740	chr15:49978017-49978018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139969051	chr15:49978055-49978056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538031488	chr15:49978056-49978057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398118832	chr15:49978068-49978069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563426014	chr15:49978109-49978110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557093938	chr15:49978157-49978158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575359659	chr15:49978176-49978177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190308115	chr15:49978193-49978194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570108832	chr15:49978306-49978307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375644027	chr15:49978343-49978344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537689998	chr15:49978358-49978359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564378406	chr15:49978367-49978368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370287725	chr15:49978369-49978370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183045676	chr15:49978372-49978373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2899448	chr15:49978375-49978376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528869236	chr15:49978435-49978436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187725343	chr15:49978459-49978460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112189189	chr15:49978491-49978492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141853294	chr15:49978511-49978512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539583685	chr15:49978548-49978549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551562723	chr15:49978554-49978555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192638835	chr15:49978628-49978629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62022674	chr15:49978672-49978673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534064975	chr15:49978676-49978677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555388689	chr15:49978721-49978722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2202710	chr15:49978898-49978899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184228268	chr15:49978907-49978908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541009722	chr15:49979011-49979012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187758611	chr15:49979036-49979037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113563895	chr15:49979057-49979058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73391044	chr15:49979083-49979084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545899945	chr15:49979218-49979219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49966800-49987400	Weak transcription	NHLF	lung
2	chr15:49978400-49984200	Weak transcription	NHDF-Ad	bronchial
3	chr15:49978800-49979400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:49978800-49979600	Enhancers	Hela-S3	cervix
5	chr15:49979000-49979400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:49979400-49979600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:49979400-49980400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:49979400-49984200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:49979600-49981400	Weak transcription	Hela-S3	cervix
10	chr15:49979600-49984400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:49980000-49981400	Enhancers	Fetal Stomach	stomach
12	chr15:49980200-49981000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:49980400-49984800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:49980600-49981200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:49980800-49982000	Enhancers	Fetal Brain Male	brain
16	chr15:49984200-49986400	Enhancers	NHDF-Ad	bronchial
17	chr15:49984200-49990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:49984400-49986000	Enhancers	Brain Hippocampus Middle	brain
19	chr15:49984400-49986400	Enhancers	Osteobl	bone
20	chr15:49984400-49987600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:49984400-49989800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:49984600-49985000	Enhancers	Brain Cingulate Gyrus	brain
23	chr15:49984600-49986400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:49984800-49985400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:49984800-49985600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr15:49984800-49986000	Enhancers	Brain Substantia Nigra	brain
27	chr15:49984800-49986400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:49985200-49986400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:49985400-49986000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:49985400-49986400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr15:49985600-49986000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr15:49985600-49986200	Enhancers	Adipose Nuclei	Adipose
33	chr15:49986200-49986800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:49986400-49988200	Weak transcription	Osteobl	bone
35	chr15:49986400-49988400	Weak transcription	NHDF-Ad	bronchial
36	chr15:49986400-49990200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:49986800-49990200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:49987400-49988000	Enhancers	NHLF	lung
39	chr15:49988000-49989000	Weak transcription	NHLF	lung
40	chr15:49988200-49989800	Enhancers	Osteobl	bone
41	chr15:49988400-49990000	Enhancers	NHDF-Ad	bronchial
42	chr15:49989000-49990200	Enhancers	NHLF	lung
43	chr15:49990200-49990800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:49990200-49990800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:49990400-49990600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr15:49990600-49991800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:49990800-49991400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:49991400-49992000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:49991600-49992000	Enhancers	Ovary	ovary
50	chr15:49996200-50001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links