Variant report

Variant	esv3327973
Chromosome Location	chr2:95989325-95994023
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:95991818..95994537-chr2:96008476..96010044,2	MCF-7	breast:
2	chr2:95988181..95990138-chr2:95993145..95994928,2	MCF-7	breast:
3	chr2:95988181..95990138-chr2:95993145..95994928,2	MCF-7	breast:
4	chr2:95988846..95989673-chr2:96011074..96011939,2	K562	blood:
5	chr2:95954727..95955276-chr2:95988867..95989710,2	MCF-7	breast:
6	chr2:95993761..95997355-chr2:96009051..96012049,3	K562	blood:
7	chr2:95989028..95989730-chr2:96011177..96011785,3	MCF-7	breast:
8	chr2:95976651..95978640-chr2:95988282..95990492,2	K562	blood:
9	chr2:95989229..95990803-chr2:96067577..96070025,2	MCF-7	breast:
10	chr2:95988380..95990496-chr2:96009611..96012136,2	K562	blood:
11	chr2:95938998..95941921-chr2:95993411..95996307,2	MCF-7	breast:
12	chr2:95988885..95989833-chr2:96011018..96011890,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115042	chromatin interactions
ENSG00000155066	chromatin interactions

Extended variants
information (count: 295 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:295 , 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	rs144163934	chr2:95989325-95989326	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570188912	chr2:95989331-95989332	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4854250	chr2:95989349-95989350	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542329071	chr2:95989374-95989375	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs62153508	chr2:95989376-95989377	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117591660	chr2:95989394-95989395	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149770824	chr2:95989438-95989439	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553401152	chr2:95989467-95989468	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576859068	chr2:95989495-95989496	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545843098	chr2:95989496-95989497	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187639472	chr2:95989517-95989518	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576159522	chr2:95989548-95989549	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560350540	chr2:95989558-95989559	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561946252	chr2:95989598-95989599	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527612376	chr2:95989627-95989628	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541432803	chr2:95989693-95989694	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564545948	chr2:95989730-95989731	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115952647	chr2:95989733-95989734	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113246887	chr2:95989739-95989740	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs3772034	chr2:95989766-95989767	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs529410762	chr2:95989797-95989798	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367669155	chr2:95989811-95989812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549195569	chr2:95989842-95989843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566031245	chr2:95989875-95989876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535028116	chr2:95989897-95989898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558179603	chr2:95989902-95989903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570381082	chr2:95989903-95989904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539084100	chr2:95989909-95989910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111766991	chr2:95989928-95989929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576241152	chr2:95989950-95989951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565227798	chr2:95989958-95989959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200510801	chr2:95989966-95989967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542021936	chr2:95989981-95989982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183236403	chr2:95989987-95989988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575492970	chr2:95990026-95990027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542597802	chr2:95990036-95990037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561119436	chr2:95990041-95990042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528301337	chr2:95990042-95990043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541286505	chr2:95990055-95990056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187224440	chr2:95990060-95990061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577938534	chr2:95990076-95990077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543466360	chr2:95990087-95990088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568331979	chr2:95990096-95990097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563783518	chr2:95990123-95990124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534845145	chr2:95990130-95990131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529396342	chr2:95990182-95990183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549158881	chr2:95990183-95990184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559384371	chr2:95990217-95990218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528664709	chr2:95990270-95990271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140027632	chr2:95990271-95990272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95980400-95991000	Weak transcription	Fetal Brain Female	brain
2	chr2:95983000-95996000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:95983000-95996400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:95983000-95996400	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:95987400-95996000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:95987800-95994200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:95988200-95989400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:95988600-95989800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:95989000-95989400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:95989000-95989600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:95989000-95989600	Enhancers	HMEC	breast
12	chr2:95989200-95989400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:95989200-95989600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:95989400-95989600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:95989400-95990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:95989400-95996400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:95989800-95991000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:95990200-95992800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:95990600-95991200	Weak transcription	Fetal Kidney	kidney
20	chr2:95990800-95991400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:95991000-95992000	Active TSS	Spleen	Spleen
22	chr2:95991000-95993400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:95991000-95996200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:95991200-95991400	Weak transcription	Fetal Brain Male	brain
25	chr2:95991200-95991400	Enhancers	Gastric	stomach
26	chr2:95991200-95992000	ZNF genes & repeats	Fetal Kidney	kidney
27	chr2:95991400-95992000	ZNF genes & repeats	Fetal Brain Male	brain
28	chr2:95991400-95992600	Weak transcription	Gastric	stomach
29	chr2:95991400-95993000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:95992000-95992200	Flanking Active TSS	Spleen	Spleen
31	chr2:95992000-95999600	Weak transcription	Fetal Kidney	kidney
32	chr2:95992200-95996800	Weak transcription	Spleen	Spleen
33	chr2:95992600-95992800	Active TSS	Gastric	stomach
34	chr2:95992600-95994200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:95992800-95993200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:95993000-95993200	Enhancers	Esophagus	oesophagus
37	chr2:95993000-95997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:95993200-95993400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:95993200-95996200	Weak transcription	Esophagus	oesophagus
40	chr2:95993400-95994200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:95993400-95994400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:95993600-95993800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr2:95993800-95995200	Enhancers	Fetal Muscle Trunk	muscle
44	chr2:95994000-95994200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:95994000-95994400	Enhancers	Fetal Muscle Leg	muscle
46	chr2:95994000-95994600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:95994000-95994600	Enhancers	Osteobl	bone

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