Variant report

Variant	nsv1041779
Chromosome Location	chr15:58634768-58662280
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58634668..58636179-chr15:58638317..58640694,2	K562	blood:
2	chr15:58634668..58636179-chr15:58638317..58640694,2	K562	blood:
3	chr15:58649963..58652081-chr15:58653053..58654968,2	K562	blood:
4	chr15:58612654..58614293-chr15:58650155..58652635,2	K562	blood:
5	chr15:58637231..58638976-chr15:58639576..58642161,2	K562	blood:
6	chr15:58629271..58630848-chr15:58634623..58636893,2	MCF-7	breast:
7	chr15:58635844..58637579-chr15:58649793..58652306,2	K562	blood:
8	chr15:58622014..58623960-chr15:58640512..58642662,2	MCF-7	breast:
9	chr15:58621484..58623793-chr15:58637642..58640448,2	K562	blood:
10	chr15:58637433..58638976-chr15:58640218..58642161,2	K562	blood:
11	chr15:58647497..58650190-chr15:58651237..58653668,2	MCF-7	breast:
12	chr15:58600524..58602216-chr15:58636813..58638903,2	MCF-7	breast:
13	chr15:58621143..58623301-chr15:58640418..58642219,2	MCF-7	breast:
14	chr15:58635124..58636832-chr15:59040986..59043198,2	K562	blood:
15	chr15:58649963..58652081-chr15:58653053..58654968,2	K562	blood:
16	chr15:58647611..58649927-chr15:58650284..58652230,2	K562	blood:
17	chr15:58622107..58624468-chr15:58635303..58638116,2	MCF-7	breast:
18	chr15:58558694..58560584-chr15:58661911..58664219,2	K562	blood:
19	chr15:58647497..58650190-chr15:58651237..58653668,2	MCF-7	breast:
20	chr15:58647611..58649927-chr15:58650284..58652230,2	K562	blood:
21	chr15:58645233..58647204-chr15:58651781..58654730,3	MCF-7	breast:
22	chr15:58637231..58638976-chr15:58639576..58642161,2	K562	blood:
23	chr15:58629848..58632165-chr15:58650024..58652398,2	K562	blood:
24	chr15:58635844..58637579-chr15:58649793..58652306,2	K562	blood:
25	chr15:58645233..58647204-chr15:58651781..58654730,3	MCF-7	breast:
26	chr15:58637433..58638976-chr15:58640218..58642161,2	K562	blood:
27	chr15:58625329..58627247-chr15:58636913..58638829,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128918	chromatin interactions
ENSG00000137845	chromatin interactions

Extended variants
information (count: 1463 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1463 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs261318	chr15:58634768-58634769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533898514	chr15:58634775-58634776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186361912	chr15:58634785-58634786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574684975	chr15:58634787-58634788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147316203	chr15:58634820-58634821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533749653	chr15:58634845-58634846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553522810	chr15:58634854-58634855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139043738	chr15:58634910-58634911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191216524	chr15:58634913-58634914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28604545	chr15:58634947-58634948	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575394855	chr15:58634976-58634977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574243906	chr15:58634994-58634995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536989059	chr15:58635021-58635022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78381762	chr15:58635025-58635026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533276599	chr15:58635026-58635027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12591174	chr15:58635029-58635030	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs261319	chr15:58635035-58635036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149865318	chr15:58635075-58635076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548959473	chr15:58635082-58635083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs261320	chr15:58635095-58635096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144971620	chr15:58635144-58635145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551632400	chr15:58635167-58635168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571350118	chr15:58635176-58635177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs261321	chr15:58635177-58635178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183476559	chr15:58635201-58635202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573513629	chr15:58635241-58635242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559523957	chr15:58635243-58635244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs56964961	chr15:58635244-58635245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555778204	chr15:58635250-58635251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12900738	chr15:58635273-58635274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143414644	chr15:58635287-58635288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75684453	chr15:58635291-58635292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577829827	chr15:58635316-58635317	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540337526	chr15:58635339-58635340	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560638865	chr15:58635341-58635342	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs146719239	chr15:58635401-58635402	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375279207	chr15:58635409-58635410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563540350	chr15:58635412-58635413	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs543048613	chr15:58635416-58635417	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368178062	chr15:58635505-58635506	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562766441	chr15:58635516-58635517	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531673279	chr15:58635532-58635533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs78232530	chr15:58635563-58635564	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs4775031	chr15:58635583-58635584	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
45	rs570756282	chr15:58635607-58635608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527485528	chr15:58635619-58635620	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34556299	chr15:58635621-58635622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs547139411	chr15:58635625-58635626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs4775032	chr15:58635637-58635638	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117978224	chr15:58635638-58635639	Weak transcription Enhancers	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58625000-58643200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:58626000-58634800	Weak transcription	NHLF	lung
3	chr15:58626000-58638200	Weak transcription	HSMMtube	muscle
4	chr15:58626200-58638400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:58627200-58638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:58629800-58638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:58632800-58635000	Weak transcription	A549	lung
8	chr15:58632800-58638200	Weak transcription	HSMM	muscle
9	chr15:58632800-58638200	Weak transcription	NHDF-Ad	bronchial
10	chr15:58634000-58635000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:58634200-58635000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:58634400-58636600	Enhancers	K562	blood
13	chr15:58634400-58640400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:58634600-58634800	Enhancers	Fetal Brain Male	brain
15	chr15:58634600-58635000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:58634600-58635600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:58634600-58636400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr15:58634600-58638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:58634800-58635400	Enhancers	NHLF	lung
20	chr15:58635000-58635200	Enhancers	A549	lung
21	chr15:58635000-58635400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:58635000-58635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:58635000-58636400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:58635200-58635600	Weak transcription	A549	lung
25	chr15:58635400-58635600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:58635400-58635800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr15:58635400-58635800	Weak transcription	NHLF	lung
28	chr15:58635600-58638400	Enhancers	A549	lung
29	chr15:58635600-58638600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:58635800-58636000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:58635800-58636000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:58635800-58636000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:58635800-58636000	Enhancers	NHLF	lung
34	chr15:58635800-58638200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:58636000-58636400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:58636000-58637200	Weak transcription	NHLF	lung
37	chr15:58636000-58638800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr15:58636200-58638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:58636200-58638400	Enhancers	Fetal Thymus	thymus
40	chr15:58636400-58636600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr15:58636400-58637200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:58636600-58637000	Flanking Active TSS	K562	blood
43	chr15:58636600-58637400	Enhancers	Placenta	Placenta
44	chr15:58636600-58637400	Enhancers	Thymus	Thymus
45	chr15:58636800-58638200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:58636800-58640600	Weak transcription	Fetal Kidney	kidney
47	chr15:58637000-58637600	Enhancers	K562	blood
48	chr15:58637200-58637400	Enhancers	Stomach Mucosa	stomach
49	chr15:58637200-58637600	Enhancers	Fetal Lung	lung
50	chr15:58637200-58637800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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