Variant report

Variant	esv33758
Chromosome Location	chr3:136480745-136492394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136471103..136473077-chr3:136487227..136489991,3	MCF-7	breast:
2	chr3:136486125..136487075-chr3:136732472..136733275,2	MCF-7	breast:
3	chr3:136489373..136491844-chr3:136498899..136501779,2	MCF-7	breast:
4	chr3:136469342..136471925-chr3:136490168..136491788,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAG1-4	chr3:136486167-136486437	NONHSAT092284

Variant related genes	Relation type
ENSG00000118007	chromatin interactions
ENSG00000261758	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551952999	chr3:136482014-136482015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571894870	chr3:136482066-136482067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534193643	chr3:136482083-136482084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554065695	chr3:136482088-136482089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs183646142	chr3:136482122-136482123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535857521	chr3:136482205-136482206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555833976	chr3:136482221-136482222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576105863	chr3:136482222-136482223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545168394	chr3:136482235-136482236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs9812541	chr3:136482244-136482245	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572225412	chr3:136482254-136482255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs540919386	chr3:136482262-136482263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs561173037	chr3:136482284-136482285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529296144	chr3:136482358-136482359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188974605	chr3:136482369-136482370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142538839	chr3:136482461-136482462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs367544367	chr3:136482492-136482493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371343152	chr3:136482493-136482494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112209554	chr3:136482522-136482523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571722401	chr3:136482536-136482537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs193296878	chr3:136482544-136482545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146501971	chr3:136482640-136482641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185511456	chr3:136482682-136482683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535845058	chr3:136482786-136482787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554576737	chr3:136485804-136485805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568130540	chr3:136485814-136485815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370628803	chr3:136485843-136485844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560807349	chr3:136485857-136485858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574678156	chr3:136485877-136485878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557177783	chr3:136485905-136485906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575437721	chr3:136485946-136485947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546122148	chr3:136485979-136485980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553699316	chr3:136485982-136485983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113717537	chr3:136486031-136486032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182506830	chr3:136486040-136486041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541833614	chr3:136486046-136486047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561636472	chr3:136486133-136486134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530446744	chr3:136486163-136486164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544251174	chr3:136486179-136486180	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs6439656	chr3:136486228-136486229	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs111424315	chr3:136486262-136486263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs569599565	chr3:136486268-136486269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs35515707	chr3:136486306-136486307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs538099759	chr3:136486307-136486308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs138409327	chr3:136486317-136486318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs397878006	chr3:136486324-136486325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs566410933	chr3:136486363-136486364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs529118353	chr3:136486364-136486365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs188020224	chr3:136486379-136486380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs111533761	chr3:136486405-136486406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136482000-136482800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:136485800-136486200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr3:136489000-136489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:136489000-136489400	Enhancers	Osteobl	bone
5	chr3:136489400-136491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:136491200-136491800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:136491200-136491800	Enhancers	Hela-S3	cervix
8	chr3:136491200-136492200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:136491200-136492400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:136491400-136491800	Enhancers	NH-A	brain
11	chr3:136491600-136492000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:136491600-136492000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:136491800-136493200	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links