Variant report

Variant	esv3400936
Chromosome Location	chr4:6925101-6927799
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6921707..6924021-chr4:6925903..6927996,2	K562	blood:
2	chr4:6926678..6929634-chr4:6988002..6989801,2	K562	blood:
3	chr4:6925139..6926793-chr4:6927424..6929653,2	K562	blood:
4	chr4:6910406..6912852-chr4:6922580..6925355,2	MCF-7	breast:
5	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
6	chr4:6927079..6929042-chr4:6940771..6942363,2	K562	blood:
7	chr4:6863476..6866254-chr4:6925496..6927606,2	K562	blood:
8	chr4:6927079..6929497-chr4:6940863..6942665,2	K562	blood:
9	chr4:6918829..6920609-chr4:6923833..6926676,3	MCF-7	breast:
10	chr4:6925139..6926793-chr4:6927424..6929653,2	K562	blood:
11	chr4:6909963..6912664-chr4:6925024..6930247,5	MCF-7	breast:
12	chr4:6926678..6930436-chr4:6987384..6989801,3	K562	blood:
13	chr4:6927466..6930094-chr4:7020098..7022400,2	MCF-7	breast:
14	chr4:6926884..6928623-chr4:6939746..6942582,2	MCF-7	breast:
15	chr4:6924422..6927283-chr4:6930396..6933115,3	K562	blood:
16	chr4:6922272..6924651-chr4:6925651..6927891,2	MCF-7	breast:
17	chr4:6927493..6929739-chr4:6946981..6949624,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132405	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375836880	chr4:6925126-6925127	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369979091	chr4:6925132-6925133	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373435463	chr4:6925152-6925153	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374685226	chr4:6925153-6925154	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368992523	chr4:6925176-6925177	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145665500	chr4:6925181-6925182	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534605304	chr4:6925198-6925199	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145732986	chr4:6925213-6925214	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141012176	chr4:6925226-6925227	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372794265	chr4:6925231-6925232	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144858395	chr4:6925235-6925236	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151295415	chr4:6925236-6925237	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34860182	chr4:6925237-6925238	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150001164	chr4:6925239-6925240	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145200625	chr4:6925242-6925243	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141167484	chr4:6925243-6925244	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201677970	chr4:6925244-6925245	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183069220	chr4:6925254-6925255	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144981670	chr4:6925270-6925271	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs202214482	chr4:6925272-6925273	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543768521	chr4:6925276-6925277	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138681879	chr4:6925314-6925315	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200312732	chr4:6925326-6925327	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370410252	chr4:6925329-6925330	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115334884	chr4:6925344-6925345	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145484437	chr4:6925351-6925352	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142845338	chr4:6925362-6925363	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530223501	chr4:6925363-6925364	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375266892	chr4:6925368-6925369	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199606822	chr4:6925369-6925370	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34768850	chr4:6925371-6925372	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570309392	chr4:6925372-6925373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117097571	chr4:6925389-6925390	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571166476	chr4:6925396-6925397	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536762985	chr4:6925407-6925408	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141690496	chr4:6925421-6925422	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370873478	chr4:6925425-6925426	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371738551	chr4:6925426-6925427	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553894612	chr4:6925428-6925429	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572204539	chr4:6925431-6925432	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150525115	chr4:6925432-6925433	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554489915	chr4:6925459-6925460	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142720842	chr4:6925470-6925471	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577074529	chr4:6925480-6925481	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147348518	chr4:6925485-6925486	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543358259	chr4:6925489-6925490	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141049958	chr4:6925490-6925491	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373638955	chr4:6925503-6925504	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376311994	chr4:6925509-6925510	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565234468	chr4:6925526-6925527	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6912600-6925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:6913200-6925200	Weak transcription	NHLF	lung
3	chr4:6918600-6925200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:6918600-6925200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:6918600-6925400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:6918800-6925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:6918800-6925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:6918800-6925400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:6919000-6925200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:6919000-6925200	Weak transcription	NHEK	skin
11	chr4:6919000-6928000	Weak transcription	Fetal Kidney	kidney
12	chr4:6919200-6925400	Weak transcription	HSMMtube	muscle
13	chr4:6919600-6925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:6919600-6925200	Weak transcription	Ovary	ovary
15	chr4:6919600-6925600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
17	chr4:6920000-6925200	Weak transcription	Brain Angular Gyrus	brain
18	chr4:6920200-6925200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:6920200-6925200	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:6920200-6925200	Weak transcription	Right Ventricle	heart
21	chr4:6920200-6925400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:6920200-6927600	Weak transcription	Right Atrium	heart
23	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
24	chr4:6920400-6925200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:6920400-6925200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:6920400-6925200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:6920400-6925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:6920400-6925200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:6920400-6925200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:6920400-6925200	Weak transcription	Brain Germinal Matrix	brain
31	chr4:6920400-6925200	Weak transcription	Left Ventricle	heart
32	chr4:6920400-6925200	Weak transcription	A549	lung
33	chr4:6920400-6925400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:6920400-6925400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:6920400-6925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:6920400-6925400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:6920400-6925400	Weak transcription	Pancreas	Pancrea
38	chr4:6920400-6925400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:6920400-6928600	Weak transcription	Psoas Muscle	Psoas
40	chr4:6920400-6931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:6920600-6925200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:6920800-6925200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:6920800-6925200	Weak transcription	Adipose Nuclei	Adipose
44	chr4:6920800-6925200	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:6920800-6925200	Weak transcription	Placenta	Placenta
46	chr4:6920800-6925200	Weak transcription	Lung	lung
47	chr4:6920800-6925200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:6920800-6925200	Weak transcription	Small Intestine	intestine
49	chr4:6921000-6925600	Weak transcription	Fetal Lung	lung
50	chr4:6921400-6925600	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links