Variant report

Variant	esv3353496
Chromosome Location	chr3:133790862-133795160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:133791294-133791585	IMR90	lung:	n/a	chr3:133791423-133791432 chr3:133791421-133791432 chr3:133791423-133791432 chr3:133791421-133791434 chr3:133791423-133791432 chr3:133791423-133791432 chr3:133791421-133791434
2	CEBPB	chr3:133791277-133791586	HepG2	liver:	n/a	chr3:133791423-133791432 chr3:133791421-133791432 chr3:133791423-133791432 chr3:133791421-133791434 chr3:133791423-133791432 chr3:133791423-133791432 chr3:133791421-133791434
3	CTCF	chr3:133790869-133790907	GM20000	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133791162..133793123-chr3:133797693..133799842,2	K562	blood:
2	chr3:133791623..133794006-chr3:133797274..133799842,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RYK-1	chr3:133793879-133794057	XLOC_003260

Variant related genes	Relation type
RYK	TF binding region

Extended variants
information (count: 170 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71331741	chr3:133790900-133790901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545096782	chr3:133790972-133790973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564678191	chr3:133790978-133790979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556359683	chr3:133790996-133790997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192269319	chr3:133791104-133791105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116695023	chr3:133791158-133791159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371216533	chr3:133791191-133791192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529966044	chr3:133791242-133791243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549561121	chr3:133791251-133791252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9843541	chr3:133791284-133791285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532461095	chr3:133791287-133791288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184692223	chr3:133791293-133791294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148866201	chr3:133791339-133791340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189725199	chr3:133791463-133791464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535032891	chr3:133791484-133791485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147470864	chr3:133791506-133791507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138133425	chr3:133791516-133791517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537790932	chr3:133791542-133791543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12491269	chr3:133791581-133791582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143666093	chr3:133791590-133791591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367614741	chr3:133791614-133791615	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs564529484	chr3:133791633-133791634	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs572986293	chr3:133791702-133791703	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs150556750	chr3:133791728-133791729	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs114488915	chr3:133791851-133791852	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs538325156	chr3:133791878-133791879	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs558633102	chr3:133791887-133791888	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs181324810	chr3:133791904-133791905	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs112179339	chr3:133791914-133791915	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs78406375	chr3:133791941-133791942	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs574380279	chr3:133791954-133791955	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs543323744	chr3:133791955-133791956	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs563293664	chr3:133791957-133791958	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs532358759	chr3:133792007-133792008	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs149743727	chr3:133792047-133792048	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs540602920	chr3:133792073-133792074	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs185911443	chr3:133792126-133792127	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs188297848	chr3:133792175-133792176	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs548601468	chr3:133792230-133792231	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs181914110	chr3:133792277-133792278	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs531181118	chr3:133792376-133792377	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs560635220	chr3:133792379-133792380	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs112576717	chr3:133792410-133792411	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186561594	chr3:133792420-133792421	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570919560	chr3:133792421-133792422	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540005305	chr3:133792428-133792429	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139046565	chr3:133792443-133792444	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565763872	chr3:133792445-133792446	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190569899	chr3:133792446-133792447	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549388319	chr3:133792473-133792474	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	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
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
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133786600-133792800	Weak transcription	Left Ventricle	heart
2	chr3:133787600-133792000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:133789400-133791800	Enhancers	Fetal Muscle Trunk	muscle
4	chr3:133789800-133793200	Weak transcription	Right Atrium	heart
5	chr3:133790400-133791600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:133790400-133792400	Weak transcription	Lung	lung
7	chr3:133790600-133791600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:133790600-133793200	Weak transcription	Adipose Nuclei	Adipose
9	chr3:133790600-133795400	Weak transcription	HSMMtube	muscle
10	chr3:133790600-133795600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:133790800-133791200	Weak transcription	Placenta	Placenta
12	chr3:133790800-133793200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:133791200-133792200	Enhancers	Placenta	Placenta
14	chr3:133791600-133792400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:133791600-133793000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr3:133791800-133792600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr3:133792000-133792200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:133792200-133802600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:133792400-133792600	Enhancers	Lung	lung
20	chr3:133792400-133795800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:133792600-133793000	Weak transcription	Lung	lung
22	chr3:133792800-133793200	Enhancers	Left Ventricle	heart
23	chr3:133793000-133793800	Enhancers	Lung	lung
24	chr3:133793000-133794200	Enhancers	Fetal Muscle Leg	muscle
25	chr3:133793200-133793400	Enhancers	Right Atrium	heart
26	chr3:133793200-133793400	Enhancers	Small Intestine	intestine
27	chr3:133793200-133793600	Enhancers	Adipose Nuclei	Adipose
28	chr3:133793200-133793800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:133793400-133793600	Bivalent Enhancer	Fetal Stomach	stomach
30	chr3:133793600-133796600	Weak transcription	Adipose Nuclei	Adipose
31	chr3:133793800-133795600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:133794600-133797600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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