Variant report

Variant	nsv822193
Chromosome Location	chr3:99513060-99514929
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	chr3:99510747..99513973-chr3:99518413..99521889,3	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376847129	chr3:99513066-99513067	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148554605	chr3:99513077-99513078	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369750736	chr3:99513095-99513096	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113865999	chr3:99513133-99513134	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373520786	chr3:99513134-99513135	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186583837	chr3:99513145-99513146	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542434140	chr3:99513152-99513153	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563832804	chr3:99513178-99513179	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376392282	chr3:99513192-99513193	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370192724	chr3:99513214-99513215	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62636637	chr3:99513320-99513321	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs267599509	chr3:99513329-99513330	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147742993	chr3:99513419-99513420	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147906655	chr3:99513455-99513456	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140481515	chr3:99513474-99513475	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201319988	chr3:99513483-99513484	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370638012	chr3:99513489-99513490	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149507188	chr3:99513493-99513494	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200078198	chr3:99513494-99513495	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138724036	chr3:99513495-99513496	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372359820	chr3:99513502-99513503	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376231356	chr3:99513521-99513522	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368449011	chr3:99513534-99513535	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371685094	chr3:99513536-99513537	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201202528	chr3:99513607-99513608	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1053956	chr3:99513630-99513631	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1053957	chr3:99513635-99513636	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114008241	chr3:99513645-99513646	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369506449	chr3:99513646-99513647	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373677043	chr3:99513657-99513658	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547121235	chr3:99513684-99513685	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565755609	chr3:99513689-99513690	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529698209	chr3:99513690-99513691	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547883197	chr3:99513693-99513694	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9851406	chr3:99513757-99513758	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs200329310	chr3:99513759-99513760	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117744334	chr3:99513783-99513784	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558799692	chr3:99513829-99513830	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139380413	chr3:99513830-99513831	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150035054	chr3:99513834-99513835	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376381702	chr3:99513902-99513903	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs267599510	chr3:99513916-99513917	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368792659	chr3:99513952-99513953	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199818609	chr3:99513973-99513974	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574897728	chr3:99513974-99513975	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371828085	chr3:99513981-99513982	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376069882	chr3:99513991-99513992	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561757637	chr3:99514008-99514009	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557514337	chr3:99514035-99514036	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369684623	chr3:99514062-99514063	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:99494200-99513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:99502600-99518200	Weak transcription	HSMMtube	muscle
4	chr3:99502800-99518400	Weak transcription	NH-A	brain
5	chr3:99505800-99513200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:99508400-99513200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:99508400-99522200	Weak transcription	NHDF-Ad	bronchial
8	chr3:99508800-99518600	Strong transcription	Osteobl	bone
9	chr3:99509200-99513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:99510000-99523600	Weak transcription	HUVEC	blood vessel
11	chr3:99510400-99516200	Weak transcription	NHLF	lung
12	chr3:99510600-99515600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:99511800-99522800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:99512600-99515000	Weak transcription	Lung	lung
15	chr3:99512800-99513200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:99512800-99515400	Weak transcription	Right Ventricle	heart
17	chr3:99513000-99513400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:99513000-99514600	Strong transcription	NHEK	skin
19	chr3:99513000-99514800	Strong transcription	Aorta	Aorta
20	chr3:99513000-99515000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:99513000-99515000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:99513000-99515200	Strong transcription	HSMM	muscle
23	chr3:99513000-99515800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr3:99513000-99518400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:99513200-99514200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:99513200-99514600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:99513200-99515800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:99513400-99513800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:99513600-99514600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:99514200-99523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:99514400-99514600	Enhancers	Placenta	Placenta
32	chr3:99514600-99516400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:99514600-99516400	Weak transcription	NHEK	skin
34	chr3:99514600-99516800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:99514800-99523600	Weak transcription	Aorta	Aorta

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