Variant report

Variant	nsv591172
Chromosome Location	chr3:100516767-100522384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100520717..100523501-chr7:140980485..140982614,2	MCF-7	breast:

Extended variants
information (count: 187 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9881972	chr3:100516767-100516768	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59171434	chr3:100516882-100516883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569912149	chr3:100516894-100516895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73152416	chr3:100516905-100516906	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191947815	chr3:100516950-100516951	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570937409	chr3:100516982-100516983	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61410840	chr3:100517059-100517060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182868180	chr3:100517092-100517093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17217950	chr3:100517140-100517141	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs188194053	chr3:100517208-100517209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559543690	chr3:100517209-100517210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536061543	chr3:100517223-100517224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554853937	chr3:100517249-100517250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9824346	chr3:100517311-100517312	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs141311811	chr3:100517335-100517336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541527884	chr3:100517376-100517377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577181979	chr3:100517421-100517422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541374166	chr3:100517429-100517430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191907169	chr3:100517465-100517466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73152422	chr3:100517487-100517488	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182277698	chr3:100517525-100517526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377179988	chr3:100517530-100517531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530986528	chr3:100517534-100517535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145093267	chr3:100517538-100517539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571287369	chr3:100517542-100517543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76420865	chr3:100517569-100517570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367812910	chr3:100517570-100517571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370640140	chr3:100517596-100517597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547322887	chr3:100517628-100517629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17218061	chr3:100517641-100517642	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs528711147	chr3:100517695-100517696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536592329	chr3:100517701-100517702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554890615	chr3:100517707-100517708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569895479	chr3:100517708-100517709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546908758	chr3:100517719-100517720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73861215	chr3:100517787-100517788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72930698	chr3:100517788-100517789	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577217107	chr3:100517835-100517836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541160738	chr3:100517854-100517855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568278521	chr3:100517876-100517877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574726135	chr3:100517878-100517879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542143000	chr3:100517908-100517909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73152424	chr3:100517965-100517966	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531026852	chr3:100518074-100518075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571376961	chr3:100518152-100518153	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7638032	chr3:100518207-100518208	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs533839748	chr3:100518445-100518446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547169836	chr3:100518451-100518452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565705826	chr3:100518462-100518463	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7638305	chr3:100518467-100518468	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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	21293372	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100475600-100520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:100494800-100523400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:100502200-100518600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:100502400-100530400	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:100502600-100516800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:100505200-100558200	Weak transcription	Ovary	ovary
7	chr3:100505200-100582800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:100506000-100548400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:100509200-100518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:100513600-100523000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:100514200-100547600	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:100514400-100529000	Weak transcription	HSMMtube	muscle
13	chr3:100515200-100518800	Enhancers	Fetal Stomach	stomach
14	chr3:100515400-100517200	Enhancers	Fetal Lung	lung
15	chr3:100515400-100521800	Enhancers	NHDF-Ad	bronchial
16	chr3:100515600-100519200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:100515600-100522600	Weak transcription	Osteobl	bone
18	chr3:100515800-100517400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr3:100516000-100523000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:100516000-100572200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:100516400-100519200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:100516600-100517200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:100516600-100517400	Enhancers	HSMM	muscle
24	chr3:100516600-100518000	Enhancers	HUVEC	blood vessel
25	chr3:100516800-100517200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:100516800-100517200	Enhancers	Rectal Smooth Muscle	rectum
27	chr3:100517000-100517200	Enhancers	NHEK	skin
28	chr3:100517200-100518800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:100517400-100518600	Weak transcription	NHEK	skin
30	chr3:100517400-100523400	Weak transcription	HSMM	muscle
31	chr3:100517400-100594400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:100518200-100519000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:100518600-100519400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:100518600-100519800	Enhancers	NHEK	skin
35	chr3:100518800-100519600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:100518800-100543000	Weak transcription	Fetal Stomach	stomach
37	chr3:100519000-100523400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:100519200-100519600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:100519600-100523600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:100519600-100530600	Weak transcription	Left Ventricle	heart
41	chr3:100521600-100522800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:100521800-100522000	Genic enhancers	NHDF-Ad	bronchial
43	chr3:100522000-100522400	Weak transcription	NHDF-Ad	bronchial

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