Variant report

Variant	nsv984225
Chromosome Location	chr15:100120927-100124483
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:100121660..100123985-chr15:100171414..100173552,2	MCF-7	breast:
2	chr15:100118981..100120902-chr15:100121379..100123708,2	K562	blood:
3	chr15:100111468..100113538-chr15:100118782..100121067,2	K562	blood:
4	chr15:100115088..100116999-chr15:100119971..100123240,3	K562	blood:
5	chr15:100117617..100121955-chr15:100124250..100127287,4	K562	blood:
6	chr15:100116295..100118143-chr15:100119815..100121914,2	MCF-7	breast:
7	chr15:100105377..100107191-chr15:100123096..100125777,2	K562	blood:
8	chr15:100117617..100121955-chr15:100124250..100127287,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068305	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572890362	chr15:100120927-100120928	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375047537	chr15:100120937-100120938	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540498491	chr15:100120954-100120955	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560794623	chr15:100120956-100120957	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145747500	chr15:100120961-100120962	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528117717	chr15:100120984-100120985	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189972408	chr15:100121037-100121038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148930105	chr15:100121041-100121042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180804421	chr15:100121042-100121043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533213281	chr15:100121064-100121065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74033747	chr15:100121090-100121091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566883040	chr15:100121105-100121106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77824414	chr15:100121119-100121120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549461852	chr15:100121229-100121230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369075717	chr15:100121232-100121233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145617419	chr15:100121258-100121259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185178552	chr15:100121267-100121268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115182036	chr15:100121273-100121274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79936827	chr15:100121333-100121334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368732725	chr15:100121347-100121348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2581467	chr15:100121355-100121356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113752893	chr15:100121423-100121424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34513363	chr15:100121463-100121464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138203826	chr15:100121486-100121487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111504918	chr15:100121515-100121516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145150641	chr15:100121570-100121571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554998447	chr15:100121578-100121579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370148132	chr15:100121585-100121586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35355471	chr15:100121620-100121621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191123713	chr15:100121633-100121634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573906726	chr15:100121634-100121635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117912280	chr15:100121711-100121712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11636728	chr15:100121732-100121733	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535556388	chr15:100121750-100121751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200249962	chr15:100121780-100121781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533657615	chr15:100121784-100121785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529114134	chr15:100121796-100121797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78372746	chr15:100121799-100121800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114342620	chr15:100121801-100121802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527655449	chr15:100121824-100121825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549498910	chr15:100121826-100121827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567718970	chr15:100121860-100121861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558275891	chr15:100121894-100121895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529140513	chr15:100122037-100122038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183871329	chr15:100122120-100122121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569085071	chr15:100122123-100122124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539704293	chr15:100122174-100122175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141502652	chr15:100122240-100122241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566467300	chr15:100122295-100122296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533504642	chr15:100122340-100122341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100107400-100134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:100107400-100134200	Weak transcription	Pancreas	Pancrea
3	chr15:100107800-100124800	Weak transcription	Fetal Stomach	stomach
4	chr15:100108000-100142000	Weak transcription	Thymus	Thymus
5	chr15:100108200-100125200	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:100108400-100124600	Weak transcription	Brain Germinal Matrix	brain
7	chr15:100109000-100124000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:100109000-100140200	Weak transcription	Hela-S3	cervix
9	chr15:100109600-100124000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:100109600-100125800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr15:100109600-100126200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:100109600-100132200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:100109800-100122000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:100114200-100124000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:100114400-100124400	Weak transcription	A549	lung
16	chr15:100115000-100122800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:100115000-100138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:100115800-100121200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:100116400-100124000	Weak transcription	Primary B cells from cord blood	blood
20	chr15:100117000-100123000	Enhancers	Liver	Liver
21	chr15:100117600-100121000	Enhancers	Adipose Nuclei	Adipose
22	chr15:100117600-100123600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr15:100118200-100121000	Enhancers	Primary B cells from peripheral blood	blood
24	chr15:100118400-100121000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr15:100118600-100121000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:100118600-100121000	Enhancers	Psoas Muscle	Psoas
27	chr15:100118800-100132200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:100118800-100139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:100119000-100124000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:100119000-100124400	Enhancers	Fetal Heart	heart
31	chr15:100119200-100121000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:100119200-100122400	Weak transcription	GM12878-XiMat	blood
33	chr15:100119200-100124000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr15:100119400-100121200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr15:100119400-100121800	Weak transcription	K562	blood
36	chr15:100119400-100123800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr15:100119400-100123800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr15:100119400-100124000	Weak transcription	NHEK	skin
39	chr15:100119600-100124000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:100119800-100121600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr15:100119800-100122600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:100119800-100123200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:100120000-100121800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr15:100120000-100121800	Enhancers	HSMMtube	muscle
45	chr15:100120200-100121000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr15:100120200-100121000	Enhancers	Primary T cells from cord blood	blood
47	chr15:100120200-100123800	Enhancers	Colon Smooth Muscle	Colon
48	chr15:100120200-100123800	Enhancers	Rectal Smooth Muscle	rectum
49	chr15:100120200-100124400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:100120400-100121800	Weak transcription	Brain Cingulate Gyrus	brain

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