Variant report

Variant	nsv518377
Chromosome Location	chr7:3939055-3978342
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3959768..3961980-chr7:3963709..3965719,2	K562	blood:
2	chr7:3958497..3961306-chr7:3966157..3968851,3	K562	blood:
3	chr7:3970889..3972517-chr7:3996007..3997736,2	K562	blood:
4	chr7:3947932..3950368-chr7:3952794..3955461,2	MCF-7	breast:
5	chr7:3958497..3961306-chr7:3967336..3968851,2	K562	blood:
6	chr7:3937855..3940563-chr7:3945183..3947294,2	MCF-7	breast:
7	chr7:3976851..3979067-chr7:3985021..3987722,2	K562	blood:
8	chr7:3937855..3940563-chr7:3945183..3947294,2	MCF-7	breast:
9	chr7:3961683..3962198-chr7:4031551..4032127,2	MCF-7	breast:
10	chr10:76875421..76878006-chr7:3960727..3962572,2	MCF-7	breast:
11	chr7:3953782..3957860-chr7:3959035..3961864,3	K562	blood:
12	chr7:3965980..3968136-chr7:4044962..4047552,2	K562	blood:
13	chr7:3443032..3445719-chr7:3938528..3940389,2	MCF-7	breast:
14	chr7:3945929..3947531-chr7:3955821..3957556,2	K562	blood:
15	chr7:3958497..3961306-chr7:3966157..3968851,3	K562	blood:
16	chr7:3931415..3933843-chr7:3939844..3942061,2	MCF-7	breast:
17	chr7:3959798..3963581-chr7:3965288..3967967,3	MCF-7	breast:
18	chr7:3947932..3950368-chr7:3952794..3955461,2	MCF-7	breast:
19	chr7:3959768..3961980-chr7:3963709..3965719,2	K562	blood:
20	chr7:3966955..3968724-chr7:3970667..3972517,2	MCF-7	breast:
21	chr7:3953782..3957860-chr7:3959035..3961864,3	K562	blood:
22	chr7:3945929..3947531-chr7:3955821..3957556,2	K562	blood:
23	chr7:3973154..3974793-chr7:3987448..3990268,2	K562	blood:
24	chr7:3963610..3965143-chr7:3967284..3969432,2	MCF-7	breast:
25	chr7:3963610..3965143-chr7:3967284..3969432,2	MCF-7	breast:
26	chr7:3966955..3968724-chr7:3970667..3972517,2	MCF-7	breast:
27	chr7:3958497..3961306-chr7:3967336..3968851,2	K562	blood:
28	chr7:3974845..3976476-chr7:3981172..3983741,2	K562	blood:
29	chr7:3959798..3963581-chr7:3965288..3967967,3	MCF-7	breast:

No data

Extended variants
information (count: 2209 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2209 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6462447	chr7:3939055-3939056	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569019603	chr7:3939079-3939080	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs567917192	chr7:3939110-3939111	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs142258893	chr7:3939121-3939122	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs556816910	chr7:3939129-3939130	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs143146740	chr7:3939149-3939150	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs537178111	chr7:3939261-3939262	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs62439579	chr7:3939305-3939306	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs558694916	chr7:3939342-3939343	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs572428904	chr7:3939348-3939349	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs575487405	chr7:3939357-3939358	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs554556085	chr7:3939371-3939372	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs574781339	chr7:3939402-3939403	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs59408720	chr7:3939424-3939425	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573776120	chr7:3939432-3939433	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs532625756	chr7:3939440-3939441	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs546035943	chr7:3939445-3939446	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs559560274	chr7:3939455-3939456	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs528397158	chr7:3939473-3939474	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs79803139	chr7:3939503-3939504	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs74939457	chr7:3939504-3939505	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs554266889	chr7:3939508-3939509	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs530468804	chr7:3939527-3939528	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs189537299	chr7:3939563-3939564	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs181130639	chr7:3939575-3939576	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs539119993	chr7:3939576-3939577	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs558731914	chr7:3939609-3939610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185726246	chr7:3939643-3939644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546188393	chr7:3939649-3939650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150644014	chr7:3939655-3939656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555010377	chr7:3939672-3939673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575055971	chr7:3939678-3939679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189745450	chr7:3939690-3939691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564450816	chr7:3939691-3939692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182340252	chr7:3939705-3939706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577435289	chr7:3939758-3939759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73294645	chr7:3939772-3939773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559596813	chr7:3939792-3939793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111271616	chr7:3939857-3939858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186379244	chr7:3939873-3939874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12701271	chr7:3939887-3939888	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561860279	chr7:3939902-3939903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530816540	chr7:3939920-3939921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192406123	chr7:3939921-3939922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183413662	chr7:3939923-3939924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188815849	chr7:3939953-3939954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546332980	chr7:3939957-3939958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141994313	chr7:3939988-3939989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534916345	chr7:3940006-3940007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116056157	chr7:3940007-3940008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Ependymoma	20639864	CNVD
Glioma	20126413	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3901200-3959600	Weak transcription	Pancreas	Pancrea
2	chr7:3906800-3949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3923000-3940000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:3932600-3939200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:3932800-3939200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:3933000-3939200	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:3935000-3940200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:3935800-3939400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:3936800-3974200	Weak transcription	Aorta	Aorta
10	chr7:3937400-3940400	Weak transcription	Fetal Brain Male	brain
11	chr7:3937800-3939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:3937800-3943400	Weak transcription	Psoas Muscle	Psoas
13	chr7:3938000-3939200	Weak transcription	Spleen	Spleen
14	chr7:3938200-3939200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:3938800-3939600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:3938800-3941000	Enhancers	Fetal Muscle Leg	muscle
17	chr7:3939000-3939400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:3939000-3939400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:3939000-3939600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:3939000-3939600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr7:3939000-3939600	Enhancers	HSMM	muscle
22	chr7:3939200-3939400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:3939200-3939400	Enhancers	Spleen	Spleen
24	chr7:3939200-3939600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:3939200-3939600	Enhancers	Brain Anterior Caudate	brain
26	chr7:3939200-3939600	Enhancers	Brain Hippocampus Middle	brain
27	chr7:3939200-3939600	Enhancers	Brain Substantia Nigra	brain
28	chr7:3939200-3939600	Enhancers	Placenta	Placenta
29	chr7:3939200-3939800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:3939200-3940200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:3939200-3940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:3939200-3940400	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:3939400-3939600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:3939400-3939600	Weak transcription	Spleen	Spleen
35	chr7:3939600-3947600	Weak transcription	Brain Substantia Nigra	brain
36	chr7:3940000-3940200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:3940200-3943400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:3940400-3940600	Enhancers	Fetal Brain Male	brain
39	chr7:3940600-3953800	Weak transcription	Fetal Brain Male	brain
40	chr7:3942800-3944000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:3943400-3943600	Enhancers	Psoas Muscle	Psoas
42	chr7:3943400-3943600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:3944000-3944200	Enhancers	Fetal Muscle Trunk	muscle
44	chr7:3944200-3948000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:3946400-3948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:3947000-3947200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:3947200-3951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:3947400-3948200	Enhancers	Fetal Lung	lung
49	chr7:3947600-3947800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:3947600-3947800	Enhancers	Brain Substantia Nigra	brain

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