Variant report

Variant	nsv593473
Chromosome Location	chr4:3792209-3875234
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:111)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:111 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:3838562..3840871-chr4:3841933..3844162,2	K562	blood:
2	chr4:3854042..3856140-chr4:3860203..3862673,2	K562	blood:
3	chr4:3847194..3848964-chr4:3867440..3869984,2	MCF-7	breast:
4	chr4:3768745..3771580-chr4:3802446..3805073,2	MCF-7	breast:
5	chr4:3818392..3820199-chr4:3832568..3834431,2	MCF-7	breast:
6	chr4:3867255..3869432-chr4:3880872..3883548,2	K562	blood:
7	chr4:3792146..3793909-chr4:3797451..3800072,2	K562	blood:
8	chr4:3868448..3872127-chr4:3872488..3876782,3	MCF-7	breast:
9	chr4:3860535..3862546-chr4:3862623..3864292,2	K562	blood:
10	chr4:3873487..3877145-chr4:3877158..3880029,4	K562	blood:
11	chr4:3830844..3833198-chr4:3838056..3840116,2	K562	blood:
12	chr4:3857201..3859554-chr4:3866199..3868479,2	K562	blood:
13	chr4:3855293..3857600-chr4:3858375..3861792,3	MCF-7	breast:
14	chr4:3831503..3833114-chr4:3834560..3837370,2	K562	blood:
15	chr4:3838562..3840871-chr4:3841933..3844162,2	K562	blood:
16	chr4:3836235..3839004-chr4:3842229..3844534,2	K562	blood:
17	chr4:3829429..3832344-chr4:3838396..3840116,3	K562	blood:
18	chr4:3798360..3800087-chr4:3831985..3834740,2	MCF-7	breast:
19	chr4:3821936..3824037-chr4:3824303..3826053,2	K562	blood:
20	chr4:3818030..3819660-chr4:3821403..3823144,2	K562	blood:
21	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
22	chr4:3811417..3813091-chr4:3826463..3828582,2	MCF-7	breast:
23	chr4:3818030..3819660-chr4:3821403..3823144,2	K562	blood:
24	chr4:3854042..3856140-chr4:3860203..3862673,2	K562	blood:
25	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
26	chr4:3870335..3871918-chr4:3875584..3877907,2	K562	blood:
27	chr4:3822546..3824664-chr4:3827698..3829669,2	K562	blood:
28	chr4:3781470..3783733-chr4:3828633..3831117,2	MCF-7	breast:
29	chr4:3836738..3837592-chr4:3853879..3854431,2	MCF-7	breast:
30	chr4:3799018..3801911-chr4:3802376..3804176,2	K562	blood:
31	chr4:3821388..3825394-chr4:3826472..3830558,5	MCF-7	breast:
32	chr4:3784876..3787026-chr4:3792827..3794730,2	K562	blood:
33	chr4:3794231..3795030-chr4:3882116..3882816,2	MCF-7	breast:
34	chr4:3860535..3862546-chr4:3862623..3864292,2	K562	blood:
35	chr4:3795548..3796452-chr4:3882037..3882957,2	MCF-7	breast:
36	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
37	chr4:3859622..3861447-chr4:3866254..3867911,2	MCF-7	breast:
38	chr4:3850217..3853122-chr4:3854922..3858433,3	MCF-7	breast:
39	chr4:3868448..3872127-chr4:3872488..3876782,3	MCF-7	breast:
40	chr4:3829000..3829903-chr4:3870469..3871233,2	MCF-7	breast:
41	chr4:3827600..3830833-chr4:3837890..3839545,3	MCF-7	breast:
42	chr4:3803323..3805519-chr4:3807720..3809434,2	K562	blood:
43	chr4:3813333..3816584-chr4:3828376..3830899,3	MCF-7	breast:
44	chr4:3860115..3861848-chr4:3869846..3871823,2	MCF-7	breast:
45	chr4:3829000..3829903-chr4:3870469..3871233,2	MCF-7	breast:
46	chr4:3787948..3790295-chr4:3791377..3794660,3	MCF-7	breast:
47	chr4:3838261..3840151-chr4:3851783..3854219,2	MCF-7	breast:
48	chr4:3824171..3826051-chr4:3826222..3829148,2	K562	blood:
49	chr4:3821936..3824037-chr4:3824303..3826053,2	K562	blood:
50	chr4:3822546..3824664-chr4:3827698..3829669,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000118197	chromatin interactions
ENSG00000163956	chromatin interactions

Extended variants
information (count: 4568 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4568 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4076725	chr4:3792209-3792210	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115536786	chr4:3792225-3792226	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs115403615	chr4:3792229-3792230	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs148589897	chr4:3792264-3792265	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs74899309	chr4:3792274-3792275	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs552413276	chr4:3792322-3792323	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs574836953	chr4:3792332-3792333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs184569977	chr4:3792340-3792341	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs114231297	chr4:3792356-3792357	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs4076726	chr4:3792417-3792418	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548308431	chr4:3792423-3792424	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs375801636	chr4:3792431-3792432	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs7440077	chr4:3792442-3792443	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs34128828	chr4:3792495-3792496	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs200355061	chr4:3792498-3792499	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs547656823	chr4:3792504-3792505	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs570823990	chr4:3792511-3792512	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs376650749	chr4:3792512-3792513	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs567618036	chr4:3792535-3792536	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs112629967	chr4:3792552-3792553	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs576621250	chr4:3792557-3792558	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs535566662	chr4:3792564-3792565	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs555860127	chr4:3792565-3792566	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs7438025	chr4:3792571-3792572	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541455193	chr4:3792584-3792585	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs560450027	chr4:3792598-3792599	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs73200483	chr4:3792607-3792608	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs189551421	chr4:3792611-3792612	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs562536133	chr4:3792641-3792642	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs374622178	chr4:3792691-3792692	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs531570179	chr4:3792724-3792725	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs116352730	chr4:3792731-3792732	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs561841076	chr4:3792733-3792734	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs10004504	chr4:3792755-3792756	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs546998717	chr4:3792775-3792776	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs10027635	chr4:3792806-3792807	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs180800481	chr4:3792857-3792858	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs539738599	chr4:3792879-3792880	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs550488956	chr4:3792888-3792889	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs570133250	chr4:3792899-3792900	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs186519376	chr4:3792903-3792904	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs555546107	chr4:3792943-3792944	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs540862456	chr4:3792945-3792946	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs191014906	chr4:3792973-3792974	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs534972862	chr4:3792986-3792987	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs181720713	chr4:3792995-3792996	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs578100362	chr4:3793019-3793020	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs546105099	chr4:3793083-3793084	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs371384203	chr4:3793087-3793088	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs556450076	chr4:3793125-3793126	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3783000-3793600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:3788800-3795400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:3790200-3793400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:3791600-3792600	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr4:3791600-3793600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr4:3791800-3792400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:3792400-3793200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:3793200-3794200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3793400-3793800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:3793400-3794600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:3793600-3794400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:3794000-3794600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr4:3794800-3795000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:3795400-3795600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:3798800-3799000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:3799000-3800000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:3799800-3800600	Bivalent Enhancer	HepG2	liver
18	chr4:3799800-3801400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr4:3799800-3801600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr4:3800000-3800800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:3801000-3809400	Weak transcription	Right Atrium	heart
22	chr4:3802000-3804400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:3802600-3802800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:3802800-3803000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:3802800-3805400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:3803000-3803400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:3803000-3804000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:3803000-3805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:3803000-3805600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:3803200-3803400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:3803400-3804000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:3803400-3805400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:3803400-3809200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:3803600-3804000	Bivalent Enhancer	HepG2	liver
35	chr4:3803800-3805000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr4:3803800-3805200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr4:3803800-3805200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:3803800-3805600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:3804000-3805000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:3804000-3805000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:3804000-3805000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:3804000-3805200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:3804000-3805800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:3804000-3806000	Flanking Active TSS	HepG2	liver
45	chr4:3804200-3805200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:3804400-3804600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:3804400-3804800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr4:3804400-3804800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:3804400-3805000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:3804400-3805400	Bivalent Enhancer	Fetal Stomach	stomach

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