Variant report

Variant	nsv1024445
Chromosome Location	chr7:3954131-3982653
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	chr7:3963610..3965143-chr7:3967284..3969432,2	MCF-7	breast:
2	chr7:3958497..3961306-chr7:3966157..3968851,3	K562	blood:
3	chr7:3973154..3974793-chr7:3987448..3990268,2	K562	blood:
4	chr7:3947932..3950368-chr7:3952794..3955461,2	MCF-7	breast:
5	chr7:3959768..3961980-chr7:3963709..3965719,2	K562	blood:
6	chr7:3974845..3976476-chr7:3981172..3983741,2	K562	blood:
7	chr7:3953782..3957860-chr7:3959035..3961864,3	K562	blood:
8	chr7:3953782..3957860-chr7:3959035..3961864,3	K562	blood:
9	chr7:3965980..3968136-chr7:4044962..4047552,2	K562	blood:
10	chr7:3959798..3963581-chr7:3965288..3967967,3	MCF-7	breast:
11	chr7:3945929..3947531-chr7:3955821..3957556,2	K562	blood:
12	chr7:3958497..3961306-chr7:3967336..3968851,2	K562	blood:
13	chr7:3978447..3980634-chr7:4022956..4025748,2	K562	blood:
14	chr7:3959798..3963581-chr7:3965288..3967967,3	MCF-7	breast:
15	chr7:3970889..3972517-chr7:3996007..3997736,2	K562	blood:
16	chr7:3959768..3961980-chr7:3963709..3965719,2	K562	blood:
17	chr10:76875421..76878006-chr7:3960727..3962572,2	MCF-7	breast:
18	chr7:3958497..3961306-chr7:3966157..3968851,3	K562	blood:
19	chr7:3963610..3965143-chr7:3967284..3969432,2	MCF-7	breast:
20	chr7:3974845..3976476-chr7:3981172..3983741,2	K562	blood:
21	chr7:3976851..3979067-chr7:3985021..3987722,2	K562	blood:
22	chr7:3978680..3980412-chr7:3980890..3982919,2	MCF-7	breast:
23	chr7:3966955..3968724-chr7:3970667..3972517,2	MCF-7	breast:
24	chr7:3961683..3962198-chr7:4031551..4032127,2	MCF-7	breast:
25	chr7:3958497..3961306-chr7:3967336..3968851,2	K562	blood:
26	chr7:3978680..3980412-chr7:3980890..3982919,2	MCF-7	breast:
27	chr7:3966955..3968724-chr7:3970667..3972517,2	MCF-7	breast:

No data

Extended variants
information (count: 1489 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1489 , 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	rs184185459	chr7:3954157-3954158	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566148843	chr7:3954165-3954166	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534814411	chr7:3954197-3954198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554426818	chr7:3954230-3954231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574565411	chr7:3954254-3954255	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536989908	chr7:3954268-3954269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557196901	chr7:3954322-3954323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537305398	chr7:3954332-3954333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576463001	chr7:3954365-3954366	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149004948	chr7:3954409-3954410	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559046179	chr7:3954462-3954463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73036491	chr7:3954531-3954532	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143783397	chr7:3954533-3954534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561363982	chr7:3954551-3954552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146600261	chr7:3954555-3954556	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10240465	chr7:3954564-3954565	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550236866	chr7:3954600-3954601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189055002	chr7:3954612-3954613	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532572085	chr7:3954613-3954614	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552557042	chr7:3954629-3954630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs141335445	chr7:3954630-3954631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs10269172	chr7:3954641-3954642	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548657418	chr7:3954665-3954666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568187594	chr7:3954695-3954696	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs180963884	chr7:3954701-3954702	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537218255	chr7:3954705-3954706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573167032	chr7:3954706-3954707	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537233066	chr7:3954713-3954714	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs57201992	chr7:3954729-3954730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs570386578	chr7:3954731-3954732	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369944069	chr7:3954733-3954734	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144682704	chr7:3954742-3954743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114815357	chr7:3954743-3954744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373833059	chr7:3954749-3954750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573913454	chr7:3954771-3954772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572498814	chr7:3954779-3954780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs76608067	chr7:3954791-3954792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542331859	chr7:3954793-3954794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73674339	chr7:3954799-3954800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187125007	chr7:3954829-3954830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs192405813	chr7:3954864-3954865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563829957	chr7:3954878-3954879	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138555023	chr7:3954880-3954881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546507429	chr7:3954892-3954893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181541905	chr7:3954937-3954938	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77929266	chr7:3954938-3954939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115694363	chr7:3954956-3954957	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568506694	chr7:3954977-3954978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530637891	chr7:3954980-3954981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs550704844	chr7:3954999-3955000	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioma	20126413	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3901200-3959600	Weak transcription	Pancreas	Pancrea
2	chr7:3936800-3974200	Weak transcription	Aorta	Aorta
3	chr7:3948200-3955000	Weak transcription	Spleen	Spleen
4	chr7:3950600-3955600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:3950600-3955800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:3951000-3955400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:3951000-3955600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:3951000-3955800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:3951200-3954600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:3952200-3957800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:3952200-3959400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:3952200-3960600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:3952400-3955200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:3952400-3955400	Weak transcription	NHEK	skin
15	chr7:3952400-3955600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:3952400-3955600	Weak transcription	NH-A	brain
17	chr7:3952400-3955800	Weak transcription	Adipose Nuclei	Adipose
18	chr7:3952400-3955800	Weak transcription	Brain Anterior Caudate	brain
19	chr7:3952400-3963200	Weak transcription	Lung	lung
20	chr7:3952600-3956000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:3952600-3956200	Weak transcription	Primary B cells from cord blood	blood
22	chr7:3952800-3957000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:3952800-3958000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:3953000-3955600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:3953000-3959000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:3953400-3956000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:3953400-3957400	Enhancers	HepG2	liver
28	chr7:3953400-3957800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:3953600-3954200	Enhancers	Fetal Brain Female	brain
30	chr7:3953600-3954200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:3953600-3954200	Flanking Active TSS	Fetal Lung	lung
32	chr7:3953600-3954800	Enhancers	Fetal Muscle Leg	muscle
33	chr7:3953600-3954800	Enhancers	Placenta	Placenta
34	chr7:3953800-3954200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:3954000-3954800	Enhancers	HSMMtube	muscle
36	chr7:3954000-3955000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr7:3954200-3954800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:3954200-3956200	Enhancers	Fetal Lung	lung
39	chr7:3954600-3956200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:3954800-3956000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:3954800-3957000	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:3954800-3957000	Weak transcription	HSMMtube	muscle
43	chr7:3955000-3955400	Enhancers	Spleen	Spleen
44	chr7:3955000-3956400	Enhancers	Primary B cells from peripheral blood	blood
45	chr7:3955000-3958200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr7:3955200-3956200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:3955200-3957600	Enhancers	HUVEC	blood vessel
48	chr7:3955400-3956200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:3955400-3956200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:3955400-3956200	Enhancers	Duodenum Smooth Muscle	Duodenum

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