Variant report

Variant	esv3323709
Chromosome Location	chr4:3782960-3783342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3764851..3771480-chr4:3778154..3785249,14	MCF-7	breast:
2	chr4:3781470..3783733-chr4:3828633..3831117,2	MCF-7	breast:
3	chr4:3777218..3779189-chr4:3782437..3784740,2	K562	blood:
4	chr4:3596211..3598668-chr4:3781245..3783965,2	K562	blood:
5	chr4:3773333..3775875-chr4:3781745..3785058,3	MCF-7	breast:
6	chr4:3770762..3772814-chr4:3782317..3785191,2	K562	blood:
7	chr4:3767980..3770496-chr4:3782004..3784205,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184160	chromatin interactions
ENSG00000250986	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539311569	chr4:3782961-3782962	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575196286	chr4:3783013-3783014	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544228567	chr4:3783014-3783015	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554563325	chr4:3783056-3783057	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116638419	chr4:3783065-3783066	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540303153	chr4:3783066-3783067	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114177184	chr4:3783082-3783083	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532725405	chr4:3783089-3783090	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557649341	chr4:3783090-3783091	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546219748	chr4:3783101-3783102	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201721164	chr4:3783102-3783103	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188926975	chr4:3783107-3783108	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531840396	chr4:3783123-3783124	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113410439	chr4:3783139-3783140	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548188653	chr4:3783140-3783141	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141853266	chr4:3783145-3783146	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545563570	chr4:3783163-3783164	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192975905	chr4:3783175-3783176	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368704789	chr4:3783176-3783177	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547849804	chr4:3783181-3783182	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566588068	chr4:3783182-3783183	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs13101821	chr4:3783192-3783193	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114619692	chr4:3783194-3783195	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9715544	chr4:3783267-3783268	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs563296455	chr4:3783274-3783275	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185209007	chr4:3783298-3783299	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs386670778	chr4:3783304-3783305	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538102480	chr4:3783306-3783307	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs68023593	chr4:3783326-3783327	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3780400-3783000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:3781800-3783000	Flanking Active TSS	HepG2	liver
3	chr4:3782000-3783000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3782000-3783000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:3782000-3783000	Enhancers	K562	blood
6	chr4:3782200-3783000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:3782200-3784800	Bivalent Enhancer	Placenta	Placenta
8	chr4:3782400-3783000	Enhancers	A549	lung
9	chr4:3782600-3783000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:3782600-3784000	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr4:3782600-3786400	Weak transcription	Hela-S3	cervix
12	chr4:3782800-3783000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:3783000-3783400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:3783000-3783400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:3783000-3783400	Enhancers	HepG2	liver
16	chr4:3783000-3783600	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr4:3783000-3787600	Weak transcription	A549	lung
18	chr4:3783000-3793600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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