Variant report

Variant	nsv524747
Chromosome Location	chr3:161120483-161123526
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160816959..160819020-chr3:161122102..161124044,2	MCF-7	breast:
2	chr10:91899658..91901656-chr3:161118536..161120894,2	MCF-7	breast:
3	chr3:161089493..161090012-chr3:161122395..161122910,2	MCF-7	breast:
4	chr3:161057222..161057922-chr3:161123207..161123785,2	MCF-7	breast:
5	chr3:160939797..160942710-chr3:161123467..161125153,2	MCF-7	breast:
6	chr3:161119895..161121991-chr3:161159318..161161280,2	MCF-7	breast:
7	chr3:160934874..160951087-chr3:161118055..161142485,77	MCF-7	breast:
8	chr3:161003253..161016100-chr3:161121496..161137189,33	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271052	chromatin interactions
ENSG00000169251	chromatin interactions
ENSG00000169255	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16832279	chr3:161120483-161120484	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553106275	chr3:161120503-161120504	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530585046	chr3:161120619-161120620	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188180356	chr3:161120646-161120647	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570529956	chr3:161120678-161120679	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs180785231	chr3:161120685-161120686	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186091626	chr3:161120737-161120738	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566903045	chr3:161120749-161120750	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535459407	chr3:161120813-161120814	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs75304703	chr3:161120828-161120829	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77545648	chr3:161120835-161120836	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs73162595	chr3:161120851-161120852	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374506574	chr3:161120901-161120902	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112775878	chr3:161120912-161120913	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563886006	chr3:161120931-161120932	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558358669	chr3:161120974-161120975	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs578100680	chr3:161120983-161120984	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs56028440	chr3:161121032-161121033	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540965837	chr3:161121111-161121112	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189805973	chr3:161121123-161121124	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs17476443	chr3:161121148-161121149	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541860216	chr3:161121219-161121220	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373640935	chr3:161121257-161121258	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530647532	chr3:161121292-161121293	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs181455330	chr3:161121331-161121332	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150558796	chr3:161121367-161121368	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532979136	chr3:161121513-161121514	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576024386	chr3:161121527-161121528	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139539247	chr3:161121625-161121626	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115389742	chr3:161121654-161121655	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529118736	chr3:161121673-161121674	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548989147	chr3:161121719-161121720	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559570368	chr3:161121721-161121722	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370491615	chr3:161121747-161121748	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs538372820	chr3:161121775-161121776	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557963976	chr3:161121830-161121831	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs571858224	chr3:161121853-161121854	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs144470822	chr3:161121889-161121890	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139465577	chr3:161121895-161121896	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543747623	chr3:161121896-161121897	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543318639	chr3:161121931-161121932	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555434766	chr3:161121952-161121953	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575301773	chr3:161121978-161121979	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544340688	chr3:161122110-161122111	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs564028019	chr3:161122159-161122160	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs577625297	chr3:161122208-161122209	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs163137	chr3:161122225-161122226	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs144992742	chr3:161122244-161122245	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs529179130	chr3:161122265-161122266	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs201436489	chr3:161122283-161122284	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161113600-161127600	Weak transcription	NHEK	skin
2	chr3:161119000-161120800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:161119000-161124400	Weak transcription	Liver	Liver
4	chr3:161119800-161120800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:161119800-161120800	Weak transcription	NHDF-Ad	bronchial
6	chr3:161120400-161123000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:161120600-161121200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr3:161120600-161121400	Enhancers	Hela-S3	cervix
9	chr3:161120800-161121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:161120800-161121000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:161120800-161121000	Enhancers	NHDF-Ad	bronchial
12	chr3:161120800-161121200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:161120800-161121200	Enhancers	Stomach Mucosa	stomach
14	chr3:161120800-161121600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:161121000-161121400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:161121200-161123200	Weak transcription	Stomach Mucosa	stomach
17	chr3:161121200-161124800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:161121200-161125000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:161121200-161126600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:161121400-161121600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:161121400-161126800	Weak transcription	Hela-S3	cervix
22	chr3:161121600-161124400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:161123000-161124000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:161123000-161127400	Enhancers	HepG2	liver
25	chr3:161123200-161125000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:161123200-161125200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:161123200-161125600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:161123200-161126000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:161123200-161132000	Enhancers	Stomach Mucosa	stomach
30	chr3:161123400-161124800	Enhancers	Fetal Thymus	thymus
31	chr3:161123400-161125200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr3:161123400-161125200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr3:161123400-161125400	Enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links