Variant report

Variant	nsv527126
Chromosome Location	chr3:134142093-134143919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:56707823..56710437-chr3:134140925..134142745,2	MCF-7	breast:
2	chr3:134139549..134143630-chr3:134144649..134147393,5	MCF-7	breast:
3	chr3:134137781..134139924-chr3:134140721..134142548,2	MCF-7	breast:
4	chr3:134091888..134095593-chr3:134142304..134147270,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114019	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4602357	chr3:134142093-134142094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs60881442	chr3:134142135-134142136	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552069049	chr3:134142150-134142151	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566178993	chr3:134142153-134142154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535091285	chr3:134142159-134142160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548605525	chr3:134142161-134142162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568423548	chr3:134142162-134142163	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187207300	chr3:134142165-134142166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141365324	chr3:134142185-134142186	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537439683	chr3:134142284-134142285	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374753650	chr3:134142321-134142322	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs114043377	chr3:134142345-134142346	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs367966889	chr3:134142348-134142349	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150341939	chr3:134142385-134142386	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs138020989	chr3:134142391-134142392	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571813088	chr3:134142411-134142412	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs149120430	chr3:134142460-134142461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376559215	chr3:134142474-134142475	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114855260	chr3:134142479-134142480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574139516	chr3:134142481-134142482	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143179768	chr3:134142490-134142491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369579658	chr3:134142491-134142492	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532271325	chr3:134142538-134142539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552369040	chr3:134142550-134142551	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs138693292	chr3:134142585-134142586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549623379	chr3:134142589-134142590	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559542023	chr3:134142610-134142611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373956367	chr3:134142629-134142630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs528605043	chr3:134142645-134142646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs375725718	chr3:134142649-134142650	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182439363	chr3:134142686-134142687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569441470	chr3:134142695-134142696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs568544403	chr3:134142727-134142728	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187040756	chr3:134142750-134142751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142670912	chr3:134142770-134142771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571147289	chr3:134142812-134142813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539700599	chr3:134142831-134142832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146959707	chr3:134142853-134142854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537958102	chr3:134142936-134142937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191237207	chr3:134142937-134142938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs137976637	chr3:134143001-134143002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554269799	chr3:134143011-134143012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574178730	chr3:134143045-134143046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543418923	chr3:134143046-134143047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563108703	chr3:134143047-134143048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577069598	chr3:134143053-134143054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141671307	chr3:134143054-134143055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182743775	chr3:134143060-134143061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373082806	chr3:134143071-134143072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548389496	chr3:134143079-134143080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134126400-134146000	Weak transcription	Pancreas	Pancrea
2	chr3:134139000-134142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:134139000-134142200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:134141200-134143200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:134141200-134146000	Weak transcription	Adipose Nuclei	Adipose
6	chr3:134141400-134142400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:134141600-134142400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:134141600-134142400	Enhancers	Brain Anterior Caudate	brain
9	chr3:134141600-134142600	Enhancers	Brain Hippocampus Middle	brain
10	chr3:134141600-134143000	Enhancers	Fetal Muscle Leg	muscle
11	chr3:134141600-134143200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:134141600-134145800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:134141800-134142200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:134141800-134142200	Enhancers	NHLF	lung
15	chr3:134141800-134142400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:134141800-134142400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:134141800-134142400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:134141800-134142400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:134141800-134142400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:134141800-134142600	Enhancers	Brain Angular Gyrus	brain
21	chr3:134141800-134142600	Enhancers	Brain Cingulate Gyrus	brain
22	chr3:134141800-134142600	Enhancers	HSMM	muscle
23	chr3:134141800-134142600	Enhancers	NHDF-Ad	bronchial
24	chr3:134141800-134142800	Enhancers	Fetal Muscle Trunk	muscle
25	chr3:134141800-134144000	Enhancers	HepG2	liver
26	chr3:134142000-134142400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:134142000-134142400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:134142000-134142400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:134142000-134142400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:134142000-134142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:134142000-134142400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:134142000-134142400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:134142000-134142400	Enhancers	Brain Germinal Matrix	brain
34	chr3:134142000-134142400	Enhancers	Brain Substantia Nigra	brain
35	chr3:134142000-134143000	Enhancers	Fetal Brain Male	brain
36	chr3:134142000-134148800	Weak transcription	Spleen	Spleen
37	chr3:134142200-134142400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:134142200-134142400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:134142200-134142400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:134142200-134142400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:134142400-134142800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:134142400-134145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:134142400-134145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:134142400-134145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:134142400-134147600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:134142600-134145200	Weak transcription	HSMM	muscle
47	chr3:134142600-134145200	Weak transcription	NHDF-Ad	bronchial
48	chr3:134142800-134145000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:134143200-134144600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:134143200-134145000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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