Variant report

Variant	nsv527655
Chromosome Location	chr3:133687864-133696285
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133688128..133690798-chr3:133696100..133697808,2	MCF-7	breast:
2	chr3:133696142..133700134-chr3:133702355..133707029,6	MCF-7	breast:
3	chr3:133688128..133691070-chr3:133695886..133697477,3	K562	blood:
4	chr3:133689098..133691983-chr3:133695476..133697477,2	K562	blood:
5	chr3:133687273..133690612-chr3:133691267..133693178,3	MCF-7	breast:
6	chr3:133689098..133691983-chr3:133695476..133697477,2	K562	blood:
7	chr3:133695144..133697302-chr3:133700435..133702918,2	MCF-7	breast:
8	chr3:133683352..133684012-chr3:133692513..133693435,2	MCF-7	breast:
9	chr3:133688128..133690798-chr3:133696100..133697808,2	MCF-7	breast:
10	chr3:133688128..133691070-chr3:133695886..133697477,3	K562	blood:
11	chr3:133687273..133690612-chr3:133691267..133693178,3	MCF-7	breast:

No data

Extended variants
information (count: 286 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4854776	chr3:133687864-133687865	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73861290	chr3:133687871-133687872	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9828294	chr3:133687876-133687877	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183448612	chr3:133687877-133687878	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138877716	chr3:133687896-133687897	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187386933	chr3:133687934-133687935	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530326498	chr3:133687948-133687949	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550493345	chr3:133688001-133688002	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs192171908	chr3:133688014-133688015	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs568359403	chr3:133688041-133688042	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs142701883	chr3:133688070-133688071	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs551473324	chr3:133688085-133688086	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs184161724	chr3:133688127-133688128	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs555552463	chr3:133688140-133688141	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12695598	chr3:133688173-133688174	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567292913	chr3:133688216-133688217	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190014427	chr3:133688228-133688229	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114588332	chr3:133688255-133688256	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115375824	chr3:133688289-133688290	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539472611	chr3:133688298-133688299	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544816852	chr3:133688318-133688319	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558584244	chr3:133688319-133688320	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374414008	chr3:133688356-133688357	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192264089	chr3:133688365-133688366	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12695599	chr3:133688391-133688392	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541563664	chr3:133688405-133688406	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112111497	chr3:133688418-133688419	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137905047	chr3:133688422-133688423	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557220786	chr3:133688658-133688659	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377383168	chr3:133688676-133688677	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530146394	chr3:133688677-133688678	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141696725	chr3:133688785-133688786	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150531814	chr3:133688829-133688830	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532719127	chr3:133688890-133688891	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552815504	chr3:133688895-133688896	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560034348	chr3:133688989-133688990	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73861291	chr3:133689010-133689011	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547503699	chr3:133689011-133689012	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139367639	chr3:133689013-133689014	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536263415	chr3:133689103-133689104	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549628344	chr3:133689155-133689156	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112540363	chr3:133689158-133689159	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184605003	chr3:133689165-133689166	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112619340	chr3:133689197-133689198	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538398197	chr3:133689266-133689267	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189246089	chr3:133689273-133689274	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572247012	chr3:133689285-133689286	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181764865	chr3:133689320-133689321	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373489609	chr3:133689371-133689372	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149607758	chr3:133689416-133689417	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hailey-hailey disease	17597066	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133663800-133694800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:133664000-133705400	Weak transcription	Fetal Intestine Small	intestine
3	chr3:133664800-133713000	Weak transcription	Gastric	stomach
4	chr3:133675400-133698800	Weak transcription	Right Ventricle	heart
5	chr3:133682800-133699000	Weak transcription	Stomach Mucosa	stomach
6	chr3:133684600-133689400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:133686000-133688800	Weak transcription	Right Atrium	heart
8	chr3:133686200-133688200	Weak transcription	Fetal Thymus	thymus
9	chr3:133686200-133689600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:133686600-133688800	Enhancers	Lung	lung
11	chr3:133687000-133688000	Enhancers	HUVEC	blood vessel
12	chr3:133687200-133688000	Enhancers	Fetal Lung	lung
13	chr3:133687200-133688200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:133687400-133688000	Enhancers	Fetal Muscle Leg	muscle
15	chr3:133687400-133690600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:133687600-133688800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:133687600-133689400	Weak transcription	Spleen	Spleen
18	chr3:133687600-133696600	Weak transcription	Left Ventricle	heart
19	chr3:133687600-133697200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:133687800-133689800	Weak transcription	Adipose Nuclei	Adipose
21	chr3:133688000-133688200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr3:133688000-133710800	Weak transcription	Fetal Lung	lung
23	chr3:133688200-133688400	Enhancers	Fetal Thymus	thymus
24	chr3:133688200-133689000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:133688200-133689400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:133688200-133692000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:133688800-133689000	Enhancers	Right Atrium	heart
28	chr3:133688800-133689800	Weak transcription	Lung	lung
29	chr3:133688800-133690200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:133689000-133689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:133689000-133689400	Weak transcription	Right Atrium	heart
32	chr3:133689200-133689800	Weak transcription	Esophagus	oesophagus
33	chr3:133689400-133689800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:133689400-133689800	Enhancers	Spleen	Spleen
35	chr3:133689400-133690200	Enhancers	Right Atrium	heart
36	chr3:133689400-133690400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr3:133689400-133690600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:133689600-133690200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:133689600-133690200	Enhancers	Ovary	ovary
40	chr3:133689600-133690400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:133689600-133691800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:133689800-133690000	Enhancers	Esophagus	oesophagus
43	chr3:133689800-133690200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:133689800-133690200	Enhancers	Adipose Nuclei	Adipose
45	chr3:133689800-133690200	Enhancers	Lung	lung
46	chr3:133689800-133695600	Weak transcription	Spleen	Spleen
47	chr3:133690000-133692200	Weak transcription	Esophagus	oesophagus
48	chr3:133690200-133690800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:133690200-133691800	Weak transcription	Adipose Nuclei	Adipose
50	chr3:133690200-133692200	Weak transcription	Lung	lung

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