Variant report

Variant	nsv522859
Chromosome Location	chr7:150476888-150486169
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150481348..150483401-chr7:150483526..150485506,2	MCF-7	breast:
2	chr7:150484477..150485748-chr7:150573549..150574883,10	MCF-7	breast:
3	chr7:150484484..150486075-chr7:150488687..150490298,2	MCF-7	breast:
4	chr7:150485004..150485681-chr7:150573803..150574496,3	MCF-7	breast:
5	chr7:150477338..150480440-chr7:150482121..150485393,4	K562	blood:
6	chr7:150477211..150477855-chr7:150573375..150574392,3	K562	blood:
7	chr7:150473335..150475670-chr7:150486158..150488917,3	MCF-7	breast:
8	chr7:150477338..150480440-chr7:150482121..150485393,4	K562	blood:
9	chr7:150481348..150483401-chr7:150483526..150485506,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM176B-1	chr7:150477771-150478201	NONHSAT124156

No data

Extended variants
information (count: 372 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7806458	chr7:150476888-150476889	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561849589	chr7:150476914-150476915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530245945	chr7:150476933-150476934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537919002	chr7:150476941-150476942	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184667667	chr7:150477063-150477064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560602271	chr7:150477079-150477080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532413088	chr7:150477219-150477220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552499895	chr7:150477254-150477255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569501101	chr7:150477289-150477290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538137909	chr7:150477322-150477323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548406975	chr7:150477324-150477325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17173596	chr7:150477384-150477385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs534097165	chr7:150477420-150477421	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553600356	chr7:150477426-150477427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144933684	chr7:150477464-150477465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539065489	chr7:150477474-150477475	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189477575	chr7:150477480-150477481	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373971917	chr7:150477525-150477526	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576439341	chr7:150477526-150477527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376129208	chr7:150477564-150477565	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs6464098	chr7:150477592-150477593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs6464099	chr7:150477639-150477640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs572286840	chr7:150477755-150477756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11981671	chr7:150477792-150477793	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs181530885	chr7:150477856-150477857	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs186398126	chr7:150477886-150477887	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs532638284	chr7:150477887-150477888	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs6464100	chr7:150477909-150477910	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs562524240	chr7:150477989-150477990	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs188822678	chr7:150478008-150478009	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs142863548	chr7:150478030-150478031	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs112533762	chr7:150478031-150478032	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs67761328	chr7:150478032-150478033	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs10696167	chr7:150478034-150478035	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs113491668	chr7:150478035-150478036	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs57205623	chr7:150478051-150478052	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs6464101	chr7:150478052-150478053	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs561122739	chr7:150478084-150478085	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs568378947	chr7:150478122-150478123	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs10274239	chr7:150478135-150478136	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs534137222	chr7:150478188-150478189	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs547923089	chr7:150478213-150478214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74548581	chr7:150478218-150478219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6464102	chr7:150478305-150478306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs539510185	chr7:150478349-150478350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149196352	chr7:150478350-150478351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147207481	chr7:150478376-150478377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6464103	chr7:150478385-150478386	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs6464104	chr7:150478403-150478404	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs141458862	chr7:150478446-150478447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150462800-150480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:150472800-150477600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:150473600-150477400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:150473600-150479000	Weak transcription	Small Intestine	intestine
5	chr7:150475800-150479800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:150476000-150477600	Weak transcription	GM12878-XiMat	blood
7	chr7:150476000-150477800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:150476000-150478800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:150476000-150481000	Weak transcription	HepG2	liver
10	chr7:150476000-150481400	Weak transcription	A549	lung
11	chr7:150476200-150477400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:150476200-150477400	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:150476200-150477400	Weak transcription	NHDF-Ad	bronchial
14	chr7:150476200-150478800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:150476200-150479600	Enhancers	Liver	Liver
16	chr7:150476200-150480800	Weak transcription	Fetal Intestine Large	intestine
17	chr7:150476200-150481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:150476200-150481400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:150476200-150485200	Weak transcription	Brain Anterior Caudate	brain
20	chr7:150476400-150477400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:150476400-150477400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:150476400-150477400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:150476400-150477400	Weak transcription	Adipose Nuclei	Adipose
24	chr7:150476600-150477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:150476600-150477600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:150476800-150477000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:150476800-150477200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:150476800-150477200	Weak transcription	Fetal Stomach	stomach
29	chr7:150477000-150477400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr7:150477200-150478600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:150477200-150479600	Enhancers	Fetal Stomach	stomach
32	chr7:150477400-150477600	Enhancers	Esophagus	oesophagus
33	chr7:150477400-150478000	Enhancers	Placenta	Placenta
34	chr7:150477400-150478000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:150477400-150478200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:150477400-150478400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:150477400-150478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:150477400-150479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:150477400-150479000	Enhancers	Colon Smooth Muscle	Colon
40	chr7:150477400-150479200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:150477400-150479200	Enhancers	Adipose Nuclei	Adipose
42	chr7:150477400-150479200	Enhancers	Colonic Mucosa	Colon
43	chr7:150477400-150479200	Enhancers	Fetal Muscle Leg	muscle
44	chr7:150477400-150479400	Enhancers	NHDF-Ad	bronchial
45	chr7:150477400-150479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:150477600-150478000	Enhancers	Fetal Intestine Small	intestine
47	chr7:150477600-150478200	Enhancers	GM12878-XiMat	blood
48	chr7:150477600-150478400	Enhancers	Fetal Kidney	kidney
49	chr7:150477600-150478600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr7:150477600-150485400	Weak transcription	Esophagus	oesophagus

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