Variant report

Variant	nsv433432
Chromosome Location	chr4:3780072-3792442
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3774394..3778170-chr4:3784395..3787889,4	MCF-7	breast:
2	chr4:3767980..3770496-chr4:3782004..3784205,2	MCF-7	breast:
3	chr14:41952601..41955142-chr4:3784821..3786920,2	MCF-7	breast:
4	chr4:3769000..3769555-chr4:3785283..3786137,2	MCF-7	breast:
5	chr4:3777218..3779189-chr4:3782437..3784740,2	K562	blood:
6	chr4:3792146..3793909-chr4:3797451..3800072,2	K562	blood:
7	chr4:3767709..3769984-chr4:3783485..3785822,2	K562	blood:
8	chr4:3787711..3790485-chr4:3795544..3797629,2	K562	blood:
9	chr4:3786308..3789117-chr4:3789630..3791634,2	K562	blood:
10	chr4:3784436..3787283-chr4:3790083..3791949,2	MCF-7	breast:
11	chr4:3533020..3535005-chr4:3786672..3788250,2	MCF-7	breast:
12	chr4:3784486..3786605-chr4:3826007..3828204,2	MCF-7	breast:
13	chr4:3784430..3786032-chr4:3804329..3807090,2	K562	blood:
14	chr4:3773333..3775875-chr4:3781745..3785058,3	MCF-7	breast:
15	chr4:3767101..3767926-chr4:3787451..3788371,3	MCF-7	breast:
16	chr4:3781470..3783733-chr4:3828633..3831117,2	MCF-7	breast:
17	chr4:3767055..3768555-chr4:3787572..3788505,4	MCF-7	breast:
18	chr4:3783567..3786061-chr4:3828338..3831241,3	MCF-7	breast:
19	chr4:3787948..3790295-chr4:3791377..3794660,3	MCF-7	breast:
20	chr4:3786308..3789117-chr4:3789630..3791634,2	K562	blood:
21	chr4:3774123..3777050-chr4:3780900..3782661,2	K562	blood:
22	chr4:3767665..3768566-chr4:3785108..3786011,4	MCF-7	breast:
23	chr4:3633318..3635664-chr4:3788662..3791413,2	MCF-7	breast:
24	chr4:3748965..3749720-chr4:3785547..3786123,2	MCF-7	breast:
25	chr4:3770762..3772814-chr4:3782317..3785191,2	K562	blood:
26	chr4:3771642..3772558-chr4:3785244..3785866,2	MCF-7	breast:
27	chr4:3787689..3788352-chr4:3882325..3882869,2	MCF-7	breast:
28	chr4:3785291..3787678-chr4:3788137..3789890,2	MCF-7	breast:
29	chr4:3785291..3787678-chr4:3788137..3789890,2	MCF-7	breast:
30	chr4:3749442..3749991-chr4:3785209..3785794,2	MCF-7	breast:
31	chr4:3784436..3787283-chr4:3790083..3791949,2	MCF-7	breast:
32	chr4:3764851..3771480-chr4:3778154..3785249,14	MCF-7	breast:
33	chr4:3783465..3785212-chr4:3832518..3834450,2	MCF-7	breast:
34	chr4:3596211..3598668-chr4:3781245..3783965,2	K562	blood:
35	chr4:3784876..3787026-chr4:3792827..3794730,2	K562	blood:
36	chr4:3484374..3487460-chr4:3786826..3789487,3	MCF-7	breast:
37	chr4:3787948..3790295-chr4:3791377..3794660,3	MCF-7	breast:
38	chr4:3533743..3535319-chr4:3783998..3786670,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250681	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000184160	chromatin interactions
ENSG00000250986	chromatin interactions
ENSG00000163956	chromatin interactions

Extended variants
information (count: 638 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:638 , 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	rs6822427	chr4:3780072-3780073	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561892188	chr4:3780074-3780075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs527469142	chr4:3780077-3780078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547758030	chr4:3780123-3780124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570724005	chr4:3780124-3780125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112503048	chr4:3780140-3780141	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549762987	chr4:3780141-3780142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558279298	chr4:3780158-3780159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569519916	chr4:3780165-3780166	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184545817	chr4:3780211-3780212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535198052	chr4:3780250-3780251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188396115	chr4:3780272-3780273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs6853709	chr4:3780353-3780354	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73794408	chr4:3780370-3780371	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs193058139	chr4:3780386-3780387	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11735151	chr4:3780487-3780488	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543725796	chr4:3780520-3780521	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35800113	chr4:3780545-3780546	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs59984839	chr4:3780585-3780586	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549996685	chr4:3780655-3780656	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115286296	chr4:3780660-3780661	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs62291091	chr4:3780750-3780751	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527531054	chr4:3780754-3780755	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562008249	chr4:3780801-3780802	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564089899	chr4:3780802-3780803	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13138247	chr4:3780821-3780822	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11731481	chr4:3780876-3780877	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs13138433	chr4:3780906-3780907	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528848308	chr4:3780940-3780941	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548714556	chr4:3780946-3780947	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184849760	chr4:3780978-3780979	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189795866	chr4:3780996-3780997	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs180975797	chr4:3780997-3780998	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28583215	chr4:3781002-3781003	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537776519	chr4:3781003-3781004	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549472483	chr4:3781011-3781012	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557356209	chr4:3781016-3781017	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574125780	chr4:3781025-3781026	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs543043630	chr4:3781028-3781029	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs13137194	chr4:3781030-3781031	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183771582	chr4:3781032-3781033	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545141461	chr4:3781039-3781040	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189622432	chr4:3781040-3781041	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532964636	chr4:3781045-3781046	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181953971	chr4:3781062-3781063	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs149289812	chr4:3781073-3781074	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs529106059	chr4:3781091-3781092	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186341131	chr4:3781111-3781112	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556319481	chr4:3781138-3781139	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs144554983	chr4:3781145-3781146	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3776800-3781800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:3778600-3781200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3779400-3781000	Weak transcription	HepG2	liver
4	chr4:3780400-3783000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:3781000-3781800	Enhancers	HepG2	liver
6	chr4:3781200-3781600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:3781200-3782200	Enhancers	Placenta	Placenta
8	chr4:3781600-3782000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3781800-3782400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:3781800-3782600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:3781800-3782600	Enhancers	Fetal Intestine Large	intestine
12	chr4:3781800-3782800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3781800-3782800	Enhancers	Fetal Intestine Small	intestine
14	chr4:3781800-3783000	Flanking Active TSS	HepG2	liver
15	chr4:3782000-3783000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:3782000-3783000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:3782000-3783000	Enhancers	K562	blood
18	chr4:3782200-3782600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr4:3782200-3782600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:3782200-3782600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:3782200-3782600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr4:3782200-3782600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr4:3782200-3782600	Enhancers	Hela-S3	cervix
24	chr4:3782200-3782800	Enhancers	Pancreas	Pancrea
25	chr4:3782200-3783000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:3782200-3784800	Bivalent Enhancer	Placenta	Placenta
27	chr4:3782400-3783000	Enhancers	A549	lung
28	chr4:3782600-3783000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:3782600-3784000	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr4:3782600-3786400	Weak transcription	Hela-S3	cervix
31	chr4:3782800-3783000	Weak transcription	Fetal Intestine Small	intestine
32	chr4:3783000-3783400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:3783000-3783400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:3783000-3783400	Enhancers	HepG2	liver
35	chr4:3783000-3783600	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr4:3783000-3787600	Weak transcription	A549	lung
37	chr4:3783000-3793600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:3783400-3784200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:3783400-3786600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr4:3783400-3787000	Flanking Active TSS	HepG2	liver
41	chr4:3783600-3784800	Enhancers	Fetal Intestine Small	intestine
42	chr4:3783600-3786400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:3783800-3786600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:3784000-3785800	Weak transcription	Fetal Intestine Large	intestine
45	chr4:3784200-3785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:3784800-3785200	Weak transcription	Fetal Intestine Small	intestine
47	chr4:3784800-3787200	Enhancers	Placenta	Placenta
48	chr4:3785000-3788600	Enhancers	Pancreas	Pancrea
49	chr4:3785200-3786200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr4:3785200-3786200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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