Variant report

Variant	nsv366414
Chromosome Location	chr7:129504412-129512872
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129509516..129511259-chr7:129592025..129593996,2	MCF-7	breast:
2	chr7:129249913..129252186-chr7:129509036..129510980,2	K562	blood:
3	chr7:129472642..129475029-chr7:129512256..129514078,2	MCF-7	breast:
4	chr7:129502118..129504872-chr7:129519208..129521665,2	MCF-7	breast:
5	chr7:129500721..129502707-chr7:129502747..129505225,2	K562	blood:
6	chr7:129505309..129508372-chr7:129515702..129517352,3	K562	blood:
7	chr7:129505309..129508372-chr7:129515622..129517311,3	K562	blood:
8	chr7:129505293..129507930-chr9:133709686..133711404,2	MCF-7	breast:
9	chr7:129509206..129511650-chr7:129515588..129517952,2	K562	blood:
10	chr7:129417802..129420248-chr7:129504470..129507326,2	MCF-7	breast:
11	chr7:129504957..129507386-chr7:129590773..129592819,2	MCF-7	breast:
12	chr17:57922348..57924654-chr7:129510911..129513049,2	MCF-7	breast:
13	chr7:129496945..129502202-chr7:129504422..129509630,7	K562	blood:
14	chr7:129465730..129467252-chr7:129505158..129507081,2	MCF-7	breast:
15	chr7:129504521..129507078-chr7:129598689..129601588,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273329	chromatin interactions
ENSG00000186591	chromatin interactions
ENSG00000244036	chromatin interactions
ENSG00000106459	chromatin interactions
ENSG00000097007	chromatin interactions

Extended variants
information (count: 311 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75548249	chr7:129504412-129504413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76026902	chr7:129504461-129504462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139949037	chr7:129504543-129504544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184507845	chr7:129504582-129504583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571708919	chr7:129504598-129504599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564955853	chr7:129504621-129504622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150713657	chr7:129504667-129504668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532185422	chr7:129504688-129504689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565710060	chr7:129504782-129504783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12537336	chr7:129504796-129504797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554747681	chr7:129504799-129504800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112935140	chr7:129504808-129504809	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560680512	chr7:129504810-129504811	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576082556	chr7:129504819-129504820	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543939132	chr7:129504854-129504855	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs3807118	chr7:129504866-129504867	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558724616	chr7:129504869-129504870	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12534061	chr7:129504870-129504871	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs17639487	chr7:129504928-129504929	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs3807119	chr7:129505027-129505028	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528820514	chr7:129505063-129505064	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527712450	chr7:129505066-129505067	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187681471	chr7:129505088-129505089	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551664416	chr7:129505122-129505123	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374625249	chr7:129505130-129505131	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192346409	chr7:129505132-129505133	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs3807120	chr7:129505141-129505142	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs139059150	chr7:129505159-129505160	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185581288	chr7:129505171-129505172	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530517670	chr7:129505193-129505194	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532733473	chr7:129505217-129505218	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141537289	chr7:129505230-129505231	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372395396	chr7:129505231-129505232	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189310359	chr7:129505242-129505243	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376456311	chr7:129505282-129505283	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566368857	chr7:129505288-129505289	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566880064	chr7:129505392-129505393	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs73469790	chr7:129505396-129505397	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180947678	chr7:129505397-129505398	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569507422	chr7:129505435-129505436	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537162635	chr7:129505447-129505448	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs3840551	chr7:129505549-129505550	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558341053	chr7:129505563-129505564	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576995973	chr7:129505598-129505599	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540811482	chr7:129505603-129505604	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552888240	chr7:129505674-129505675	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570993990	chr7:129505693-129505694	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs377012742	chr7:129505694-129505695	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552707859	chr7:129505706-129505707	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs76674806	chr7:129505719-129505720	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
3	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:129486400-129505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:129491600-129510000	Weak transcription	Fetal Intestine Large	intestine
6	chr7:129492000-129509200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:129493800-129510400	Weak transcription	Brain Germinal Matrix	brain
8	chr7:129494400-129518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:129495400-129510400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:129495600-129517000	Weak transcription	Fetal Lung	lung
11	chr7:129496200-129505600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:129496200-129509400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:129496400-129520400	Weak transcription	Fetal Brain Female	brain
14	chr7:129496800-129509600	Weak transcription	HepG2	liver
15	chr7:129496800-129510200	Weak transcription	Fetal Thymus	thymus
16	chr7:129497000-129513400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:129497000-129515800	Weak transcription	Placenta	Placenta
18	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:129497200-129511200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:129497800-129505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:129498200-129507200	Enhancers	Adipose Nuclei	Adipose
22	chr7:129498400-129506000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:129498600-129506800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr7:129499200-129504800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:129499200-129517200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:129499600-129506000	Enhancers	Pancreas	Pancrea
27	chr7:129499800-129509600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:129500000-129505000	Weak transcription	NHDF-Ad	bronchial
29	chr7:129500800-129504800	Enhancers	Right Atrium	heart
30	chr7:129500800-129505000	Weak transcription	A549	lung
31	chr7:129500800-129505400	Weak transcription	NHLF	lung
32	chr7:129501200-129506600	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:129501400-129505400	Enhancers	Right Ventricle	heart
34	chr7:129501400-129506600	Enhancers	Colon Smooth Muscle	Colon
35	chr7:129501600-129509200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:129501600-129510600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:129501600-129511200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:129501800-129505200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:129501800-129506800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:129502000-129506800	Enhancers	Fetal Kidney	kidney
41	chr7:129502200-129506400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:129502400-129504800	Enhancers	Left Ventricle	heart
43	chr7:129502400-129506000	Enhancers	Ovary	ovary
44	chr7:129502400-129506200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:129502400-129507000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:129502600-129506600	Enhancers	Stomach Mucosa	stomach
47	chr7:129502800-129504600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:129502800-129505200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:129503000-129509800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:129503000-129513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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