Variant report

Variant	nsv591176
Chromosome Location	chr3:100763611-100799644
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:100788607..100789401-chr3:100914647..100915562,5	MCF-7	breast:
2	chr3:100609802..100610399-chr3:100788949..100789683,2	MCF-7	breast:
3	chr3:100612213..100613093-chr3:100788871..100789436,4	MCF-7	breast:
4	chr3:100788987..100791271-chr3:100835784..100837518,2	K562	blood:
5	chr3:100780235..100782485-chr3:100787488..100789969,2	K562	blood:
6	chr3:100788830..100789638-chr3:101100403..101101282,3	MCF-7	breast:
7	chr3:100788848..100789981-chr3:100914652..100915586,4	K562	blood:
8	chr3:100788825..100789763-chr3:100914706..100915595,6	MCF-7	breast:
9	chr3:100759370..100761193-chr3:100762880..100765226,2	MCF-7	breast:
10	chr3:100780235..100782485-chr3:100787488..100789969,2	K562	blood:

No data

Extended variants
information (count: 1401 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1401 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4928106	chr3:100763611-100763612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4928107	chr3:100763637-100763638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541219629	chr3:100763657-100763658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142878022	chr3:100763671-100763672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527362753	chr3:100763686-100763687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191635851	chr3:100763700-100763701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569135694	chr3:100763769-100763770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147439280	chr3:100763771-100763772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375864219	chr3:100763780-100763781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550107986	chr3:100763814-100763815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554282633	chr3:100763815-100763816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572333886	chr3:100763835-100763836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532377080	chr3:100763847-100763848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547599437	chr3:100763900-100763901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139240441	chr3:100763901-100763902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149567369	chr3:100763915-100763916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548348867	chr3:100763948-100763949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570043568	chr3:100764025-100764026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2595881	chr3:100764027-100764028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148742226	chr3:100764032-100764033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5851242	chr3:100764063-100764064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377351948	chr3:100764071-100764072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142371117	chr3:100764090-100764091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534920233	chr3:100764170-100764171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553545630	chr3:100764185-100764186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113830890	chr3:100764195-100764196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4420911	chr3:100764201-100764202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs115732876	chr3:100764241-100764242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576146504	chr3:100764297-100764298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199807084	chr3:100764300-100764301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183088428	chr3:100764306-100764307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2246096	chr3:100764309-100764310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs59370514	chr3:100764324-100764325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532465475	chr3:100764333-100764334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547689015	chr3:100764343-100764344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533199588	chr3:100764369-100764370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559504229	chr3:100764380-100764381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533674760	chr3:100764383-100764384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71315221	chr3:100764422-100764423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs67224227	chr3:100764433-100764434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75543786	chr3:100764437-100764438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557951018	chr3:100764511-100764512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552135069	chr3:100764512-100764513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146359179	chr3:100764515-100764516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372727014	chr3:100764517-100764518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139720170	chr3:100764586-100764587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2595882	chr3:100764628-100764629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2595883	chr3:100764652-100764653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535663171	chr3:100764677-100764678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2713756	chr3:100764727-100764728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100762600-100780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100768800-100769200	Enhancers	Left Ventricle	heart
3	chr3:100768800-100769400	Enhancers	HSMM	muscle
4	chr3:100768800-100770000	Enhancers	Fetal Muscle Leg	muscle
5	chr3:100768800-100770400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:100768800-100770600	Enhancers	HSMMtube	muscle
7	chr3:100769000-100769400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:100769000-100769400	Enhancers	Ovary	ovary
9	chr3:100769800-100770400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:100778200-100782000	Weak transcription	NHDF-Ad	bronchial
11	chr3:100780000-100780600	Enhancers	Stomach Mucosa	stomach
12	chr3:100780000-100780600	Enhancers	Osteobl	bone
13	chr3:100780200-100780400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:100780200-100780600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:100780200-100780600	Enhancers	HMEC	breast
16	chr3:100780400-100780600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:100780400-100780600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:100780400-100781800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:100780600-100781800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:100780600-100783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:100780600-100783600	Weak transcription	HMEC	breast
22	chr3:100780600-100783800	Weak transcription	Osteobl	bone
23	chr3:100781200-100783000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:100781600-100782200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:100781800-100784200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:100781800-100785200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:100782000-100782200	Enhancers	Fetal Stomach	stomach
28	chr3:100782000-100785000	Enhancers	NHDF-Ad	bronchial
29	chr3:100782200-100782600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:100782200-100783800	Weak transcription	Fetal Stomach	stomach
31	chr3:100782600-100783600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:100783000-100784600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:100783400-100784600	Enhancers	A549	lung
34	chr3:100783400-100784600	Enhancers	HSMMtube	muscle
35	chr3:100783400-100785200	Enhancers	NHLF	lung
36	chr3:100783600-100783800	Enhancers	Aorta	Aorta
37	chr3:100783600-100784400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:100783600-100784400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:100783600-100785000	Enhancers	Ovary	ovary
40	chr3:100783600-100785200	Enhancers	NHEK	skin
41	chr3:100783600-100785600	Enhancers	HMEC	breast
42	chr3:100783600-100786000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:100783600-100786000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:100783600-100786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:100783600-100786000	Enhancers	HUVEC	blood vessel
46	chr3:100783800-100784600	Enhancers	Osteobl	bone
47	chr3:100783800-100784800	Weak transcription	Aorta	Aorta
48	chr3:100783800-100785000	Enhancers	Fetal Stomach	stomach
49	chr3:100783800-100786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:100783800-100786000	Enhancers	Colon Smooth Muscle	Colon

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