Variant report

Variant	esv3404272
Chromosome Location	chr3:120274212-120294960
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:119963291..119963851-chr3:120277691..120278381,2	MCF-7	breast:
2	chr3:120284576..120286509-chr3:120313591..120316096,2	K562	blood:
3	chr3:120279832..120280786-chr3:120513592..120514490,6	MCF-7	breast:
4	chr3:120277206..120281341-chr3:120281680..120284583,3	K562	blood:
5	chr3:119962793..119963773-chr3:120277431..120278419,4	K562	blood:
6	chr3:120285088..120287233-chr3:120289069..120290878,2	K562	blood:
7	chr3:120285518..120287941-chr3:120460010..120462833,2	MCF-7	breast:
8	chr3:120136391..120139340-chr3:120276034..120279006,3	MCF-7	breast:
9	chr3:120143073..120145920-chr3:120273306..120275738,2	MCF-7	breast:
10	chr14:104808000..104808682-chr3:120279791..120280680,2	MCF-7	breast:
11	chr3:120289477..120291638-chr3:120315043..120317639,2	K562	blood:
12	chr3:120277206..120281341-chr3:120281680..120284583,3	K562	blood:
13	chr3:120279797..120280809-chr3:120513558..120514502,6	MCF-7	breast:
14	chr3:120139429..120140118-chr3:120277415..120278258,3	MCF-7	breast:
15	chr3:120137423..120138991-chr3:120276678..120279072,31	MCF-7	breast:
16	chr3:120269666..120272257-chr3:120274263..120276894,2	K562	blood:
17	chr3:120279838..120280352-chr3:120871430..120872100,2	MCF-7	breast:
18	chr3:120139169..120141302-chr3:120275834..120278046,2	MCF-7	breast:
19	chr3:120282278..120284804-chr3:120287050..120289696,2	K562	blood:
20	chr3:120137539..120138449-chr3:120279703..120280766,4	MCF-7	breast:
21	chr3:120285088..120287233-chr3:120289069..120290878,2	K562	blood:
22	chr3:120139127..120139904-chr3:120277621..120278457,4	MCF-7	breast:
23	chr3:120279971..120280796-chr3:120513577..120514769,5	K562	blood:
24	chr3:120135445..120137288-chr3:120277206..120278376,12	MCF-7	breast:
25	chr3:120137444..120138878-chr3:120277379..120278358,9	MCF-7	breast:
26	chr3:120282278..120284804-chr3:120287050..120289696,2	K562	blood:
27	chr15:74614889..74615521-chr3:120277797..120278349,2	MCF-7	breast:
28	chr3:120137474..120137985-chr3:120286289..120287018,2	MCF-7	breast:
29	chr3:120286252..120286774-chr3:120513818..120514517,2	MCF-7	breast:
30	chr3:120279821..120280465-chr3:121247825..121248767,2	MCF-7	breast:
31	chr3:120270757..120272549-chr3:120274263..120277082,2	K562	blood:
32	chr3:120278080..120280192-chr3:120400977..120403879,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144840	chromatin interactions
ENSG00000113924	chromatin interactions
ENSG00000065518	chromatin interactions
ENSG00000153767	chromatin interactions
ENSG00000175697	chromatin interactions

Extended variants
information (count: 639 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79269946	chr3:120274220-120274221	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs560281402	chr3:120274262-120274263	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs182949499	chr3:120274263-120274264	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs546119138	chr3:120274264-120274265	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs147460391	chr3:120274277-120274278	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs530573106	chr3:120274298-120274299	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs550259412	chr3:120274327-120274328	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs567362804	chr3:120274432-120274433	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs139822922	chr3:120274560-120274561	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs546837937	chr3:120274604-120274605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10511399	chr3:120274668-120274669	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs538821367	chr3:120274670-120274671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377629253	chr3:120274688-120274689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71327235	chr3:120274689-120274690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35446232	chr3:120274692-120274693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71327236	chr3:120274698-120274699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558934901	chr3:120274739-120274740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372847463	chr3:120274748-120274749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569170905	chr3:120274752-120274753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542058028	chr3:120274753-120274754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538243696	chr3:120274838-120274839	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554628936	chr3:120274871-120274872	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144600183	chr3:120274946-120274947	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540343496	chr3:120274967-120274968	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553830838	chr3:120274997-120274998	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187579883	chr3:120275012-120275013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550850731	chr3:120275131-120275132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571036156	chr3:120275132-120275133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148464654	chr3:120275161-120275162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142627930	chr3:120275205-120275206	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111232351	chr3:120275206-120275207	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560693138	chr3:120275212-120275213	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529669938	chr3:120275280-120275281	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139869757	chr3:120275283-120275284	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375070663	chr3:120275302-120275303	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369575406	chr3:120275353-120275354	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546752116	chr3:120275416-120275417	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs560280313	chr3:120275489-120275490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143220638	chr3:120275594-120275595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146678609	chr3:120275621-120275622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140229051	chr3:120275625-120275626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144541193	chr3:120275652-120275653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565658845	chr3:120275702-120275703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145394339	chr3:120275748-120275749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113146365	chr3:120275796-120275797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs63597260	chr3:120275797-120275798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377636340	chr3:120275798-120275799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369695926	chr3:120275799-120275800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374337184	chr3:120275800-120275801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377743990	chr3:120275801-120275802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120271400-120276200	Weak transcription	Right Ventricle	heart
2	chr3:120271400-120277200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:120272000-120277000	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:120273000-120274400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:120273000-120277000	Enhancers	Colon Smooth Muscle	Colon
6	chr3:120273200-120276800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:120273400-120275200	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:120273400-120275200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:120273400-120275200	Enhancers	NHDF-Ad	bronchial
10	chr3:120273400-120275800	Enhancers	Fetal Heart	heart
11	chr3:120273400-120277200	Enhancers	Ovary	ovary
12	chr3:120273600-120274600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:120273600-120275200	Enhancers	Liver	Liver
14	chr3:120273600-120275800	Enhancers	Adipose Nuclei	Adipose
15	chr3:120273600-120276400	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:120273800-120274400	Enhancers	Fetal Muscle Leg	muscle
17	chr3:120273800-120274600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:120273800-120274600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:120273800-120275000	Enhancers	Right Atrium	heart
20	chr3:120273800-120275200	Enhancers	Osteobl	bone
21	chr3:120273800-120275600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:120273800-120275800	Enhancers	Pancreas	Pancrea
23	chr3:120273800-120277400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:120273800-120277400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:120274000-120274400	Weak transcription	Left Ventricle	heart
26	chr3:120274000-120274800	Weak transcription	Psoas Muscle	Psoas
27	chr3:120274000-120277200	Weak transcription	Aorta	Aorta
28	chr3:120274200-120274800	Enhancers	Small Intestine	intestine
29	chr3:120274200-120275000	Enhancers	Gastric	stomach
30	chr3:120274200-120277200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr3:120274400-120274600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:120274400-120274800	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:120274400-120275000	Enhancers	Left Ventricle	heart
34	chr3:120274400-120275200	Enhancers	NHLF	lung
35	chr3:120274400-120275400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr3:120274400-120275400	Enhancers	Stomach Mucosa	stomach
37	chr3:120274600-120274800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:120274600-120275200	Enhancers	Fetal Intestine Large	intestine
39	chr3:120274600-120275200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr3:120274600-120275400	Enhancers	Lung	lung
41	chr3:120274600-120275600	Enhancers	HepG2	liver
42	chr3:120274600-120277000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:120274600-120277000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:120274600-120277600	Enhancers	Fetal Brain Male	brain
45	chr3:120274800-120275000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:120274800-120275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:120274800-120275000	Weak transcription	Fetal Stomach	stomach
48	chr3:120274800-120275400	Enhancers	Fetal Muscle Leg	muscle
49	chr3:120274800-120275400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr3:120274800-120275600	Enhancers	Duodenum Mucosa	Duodenum

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