Variant report

Variant	nsv593564
Chromosome Location	chr4:7197393-7222781
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7194853..7196911-chr4:7197699..7199665,2	K562	blood:
2	chr4:7191464..7193621-chr4:7207783..7210598,2	MCF-7	breast:
3	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
4	chr4:7198471..7200046-chr4:7211779..7213963,2	MCF-7	breast:
5	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
6	chr4:7203095..7205746-chr4:7206586..7208261,2	K562	blood:
7	chr4:7212738..7214685-chr4:7282671..7285326,2	MCF-7	breast:
8	chr4:7199149..7200826-chr4:7208217..7211215,2	MCF-7	breast:
9	chr4:7196671..7199411-chr4:7206730..7210883,4	MCF-7	breast:
10	chr4:7195064..7196941-chr4:7218562..7221333,2	MCF-7	breast:
11	chr4:7216458..7218231-chr4:7235155..7236680,2	K562	blood:
12	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
13	chr4:7207636..7209824-chr4:7302272..7304285,2	MCF-7	breast:
14	chr4:7195456..7197409-chr4:7586904..7589269,2	MCF-7	breast:
15	chr4:7212723..7215466-chr4:7270786..7273618,2	MCF-7	breast:
16	chr4:7202995..7205545-chr4:7209121..7210973,2	K562	blood:
17	chr4:7198471..7200046-chr4:7211779..7213963,2	MCF-7	breast:
18	chr4:7200738..7202710-chr4:7296032..7298626,2	MCF-7	breast:
19	chr4:7202665..7205397-chr4:7205926..7208212,2	K562	blood:
20	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
21	chr4:7202995..7205545-chr4:7209121..7210973,2	K562	blood:
22	chr4:7221845..7224931-chr4:7225932..7229288,3	MCF-7	breast:
23	chr4:7203095..7205746-chr4:7206586..7208261,2	K562	blood:
24	chr4:7200249..7202126-chr4:7205378..7208338,3	MCF-7	breast:
25	chr4:7213661..7215472-chr4:7265582..7267704,2	MCF-7	breast:
26	chr4:7196671..7199411-chr4:7206730..7210883,4	MCF-7	breast:
27	chr4:7193967..7198194-chr4:7211180..7216303,6	MCF-7	breast:
28	chr4:7193671..7195696-chr4:7206938..7209015,2	MCF-7	breast:
29	chr4:7211941..7214123-chr4:7236956..7238612,2	MCF-7	breast:
30	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
31	chr4:7199149..7200826-chr4:7208217..7211215,2	MCF-7	breast:
32	chr4:7222332..7224319-chr4:7228549..7231092,2	K562	blood:
33	chr4:7202665..7205397-chr4:7205926..7208212,2	K562	blood:
34	chr4:7221313..7223378-chr4:7286434..7289285,2	MCF-7	breast:
35	chr4:7213111..7215832-chr4:7278141..7280454,2	MCF-7	breast:
36	chr4:7200249..7202126-chr4:7205378..7208338,3	MCF-7	breast:
37	chr4:7194235..7196459-chr4:7207702..7209620,2	MCF-7	breast:
38	chr4:7193530..7197644-chr4:7213475..7216614,4	MCF-7	breast:
39	chr4:7221957..7224622-chr4:7226815..7228448,2	MCF-7	breast:
40	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
41	chr4:7196173..7199298-chr4:7297617..7300967,3	MCF-7	breast:
42	chr4:7214030..7216634-chr4:7290499..7293149,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 1256 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1256 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7697353	chr4:7197393-7197394	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs115498282	chr4:7197397-7197398	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs182056060	chr4:7197422-7197423	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs552477516	chr4:7197436-7197437	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs34034463	chr4:7197489-7197490	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs376144205	chr4:7197511-7197512	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs112256846	chr4:7197562-7197563	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs186397103	chr4:7197591-7197592	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs532693716	chr4:7197660-7197661	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs143858438	chr4:7197698-7197699	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs114438049	chr4:7197760-7197761	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs147317343	chr4:7197774-7197775	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs113048517	chr4:7197854-7197855	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs567385909	chr4:7197875-7197876	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs189972464	chr4:7197880-7197881	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs528324392	chr4:7197881-7197882	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs550030579	chr4:7197929-7197930	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs571550896	chr4:7197989-7197990	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs538964984	chr4:7197994-7197995	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs141009154	chr4:7198028-7198029	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142474038	chr4:7198036-7198037	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182664086	chr4:7198094-7198095	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554609004	chr4:7198095-7198096	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201460590	chr4:7198104-7198105	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576147566	chr4:7198107-7198108	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76675854	chr4:7198131-7198132	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs116868325	chr4:7198181-7198182	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577456802	chr4:7198201-7198202	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs541666537	chr4:7198224-7198225	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs367543806	chr4:7198227-7198228	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs559808078	chr4:7198229-7198230	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs187745762	chr4:7198255-7198256	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs542669501	chr4:7198313-7198314	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs11734929	chr4:7198331-7198332	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs139378460	chr4:7198335-7198336	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs549991777	chr4:7198341-7198342	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs71612267	chr4:7198359-7198360	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs35533255	chr4:7198394-7198395	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs571514553	chr4:7198428-7198429	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs191214080	chr4:7198469-7198470	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs74862098	chr4:7198564-7198565	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs371783694	chr4:7198570-7198571	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs565850541	chr4:7198637-7198638	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs567905008	chr4:7198653-7198654	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs536620761	chr4:7198685-7198686	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs183065969	chr4:7198795-7198796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs188552341	chr4:7198805-7198806	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs537186173	chr4:7198836-7198837	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs34174488	chr4:7198845-7198846	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs149893574	chr4:7198874-7198875	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7195400-7197400	Enhancers	Fetal Brain Male	brain
2	chr4:7195600-7197800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
3	chr4:7195600-7198800	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr4:7195600-7199200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
5	chr4:7195600-7201200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:7195600-7208000	Weak transcription	Right Atrium	heart
7	chr4:7195800-7197600	Weak transcription	HSMM	muscle
8	chr4:7195800-7198200	Bivalent Enhancer	Fetal Stomach	stomach
9	chr4:7196000-7198200	Enhancers	Brain Germinal Matrix	brain
10	chr4:7196200-7197400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:7196200-7197400	Enhancers	A549	lung
12	chr4:7196200-7197600	Enhancers	Brain Hippocampus Middle	brain
13	chr4:7196200-7198000	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:7196200-7199200	Weak transcription	Hela-S3	cervix
15	chr4:7196200-7199400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:7196200-7200800	Enhancers	NH-A	brain
17	chr4:7196200-7207800	Weak transcription	Psoas Muscle	Psoas
18	chr4:7196400-7197400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:7196400-7197400	Enhancers	Ovary	ovary
20	chr4:7196400-7197800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:7196600-7197400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:7196600-7197800	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr4:7196800-7201200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:7196800-7202600	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:7197000-7197600	Bivalent Enhancer	Fetal Lung	lung
26	chr4:7197000-7198000	Flanking Bivalent TSS/Enh	Osteobl	bone
27	chr4:7197000-7200000	Enhancers	HMEC	breast
28	chr4:7197000-7207800	Weak transcription	Esophagus	oesophagus
29	chr4:7197200-7197400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:7197200-7197400	Enhancers	Fetal Brain Female	brain
31	chr4:7197200-7197600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:7197200-7197800	Enhancers	Brain Angular Gyrus	brain
33	chr4:7197200-7198000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:7197200-7198200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:7197200-7198600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:7197200-7198800	Enhancers	HSMMtube	muscle
37	chr4:7197200-7202600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:7197400-7197600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr4:7197400-7197600	Bivalent Enhancer	HepG2	liver
40	chr4:7197400-7199200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:7197400-7199200	Weak transcription	A549	lung
42	chr4:7197400-7199400	Weak transcription	Ovary	ovary
43	chr4:7197400-7199600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:7197600-7197800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
45	chr4:7197600-7198000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:7197600-7198200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr4:7197600-7198200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:7197600-7198200	Enhancers	HSMM	muscle
49	chr4:7197600-7198800	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:7197800-7198000	Active TSS	Brain Anterior Caudate	brain

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