Variant report

Variant	esv3521006
Chromosome Location	chr4:151873909-151887584
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174358031..174358668-chr4:151874262..151874762,2	MCF-7	breast:
2	chr4:151881996..151883643-chr4:151936470..151938067,2	MCF-7	breast:
3	chr4:151872979..151875947-chr4:151936623..151938393,3	MCF-7	breast:
4	chr4:151881135..151883794-chr4:151886997..151888968,2	MCF-7	breast:
5	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
6	chr4:151881135..151883794-chr4:151886997..151888968,2	MCF-7	breast:
7	chr4:151886113..151887964-chr4:151890160..151891760,2	K562	blood:
8	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
9	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198589	chromatin interactions

Extended variants
information (count: 507 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139620714	chr4:151873975-151873976	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535445013	chr4:151874001-151874002	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143526848	chr4:151874031-151874032	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575421608	chr4:151874112-151874113	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544018565	chr4:151874122-151874123	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367565956	chr4:151874125-151874126	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146774955	chr4:151874128-151874129	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200988758	chr4:151874132-151874133	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140516352	chr4:151874218-151874219	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184943862	chr4:151874226-151874227	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114769852	chr4:151874262-151874263	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371403354	chr4:151874273-151874274	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542231031	chr4:151874301-151874302	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188877883	chr4:151874311-151874312	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562417842	chr4:151874336-151874337	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs36096918	chr4:151874340-151874341	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72721705	chr4:151874350-151874351	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551222267	chr4:151874416-151874417	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117710530	chr4:151874426-151874427	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181586809	chr4:151874438-151874439	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114269228	chr4:151874439-151874440	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184686343	chr4:151874473-151874474	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530851594	chr4:151874523-151874524	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201552103	chr4:151874531-151874532	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189783354	chr4:151874537-151874538	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535866818	chr4:151874608-151874609	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555441607	chr4:151874640-151874641	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181368639	chr4:151874663-151874664	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537726911	chr4:151874688-151874689	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557571313	chr4:151874713-151874714	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577423552	chr4:151874717-151874718	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34724932	chr4:151874744-151874745	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369043730	chr4:151874745-151874746	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539992318	chr4:151874750-151874751	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575463865	chr4:151874764-151874765	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144266126	chr4:151874767-151874768	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185974794	chr4:151874775-151874776	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542639959	chr4:151874783-151874784	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190842246	chr4:151874843-151874844	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112230523	chr4:151874865-151874866	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13114353	chr4:151874926-151874927	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576052439	chr4:151874927-151874928	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544913143	chr4:151874933-151874934	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564731982	chr4:151874936-151874937	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546335294	chr4:151874967-151874968	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs13119502	chr4:151875023-151875024	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13119510	chr4:151875027-151875028	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546853380	chr4:151875043-151875044	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560651312	chr4:151875046-151875047	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571320696	chr4:151875047-151875048	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
2	chr4:151849400-151878000	Weak transcription	Primary B cells from cord blood	blood
3	chr4:151859800-151882200	Weak transcription	Aorta	Aorta
4	chr4:151860800-151879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:151861000-151878600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:151865200-151882000	Weak transcription	Ovary	ovary
7	chr4:151865200-151883400	Weak transcription	Gastric	stomach
8	chr4:151865400-151879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:151872000-151878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:151872000-151888400	Weak transcription	Fetal Lung	lung
11	chr4:151872200-151875000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:151872200-151879000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:151872200-151879000	Weak transcription	Fetal Stomach	stomach
14	chr4:151872400-151876000	Weak transcription	HepG2	liver
15	chr4:151872400-151876200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:151872400-151877400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:151872400-151878000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:151872400-151878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:151872400-151879200	Weak transcription	Stomach Mucosa	stomach
20	chr4:151872400-151882400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:151872600-151878000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:151872600-151879200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:151872800-151876000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:151873200-151874200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:151873200-151874200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:151873200-151874200	Flanking Active TSS	K562	blood
27	chr4:151873200-151874400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:151873400-151874000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr4:151873600-151874000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:151873800-151874000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:151873800-151874000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:151873800-151875200	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr4:151874000-151874400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:151874000-151878400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:151874000-151878800	Weak transcription	Thymus	Thymus
36	chr4:151874000-151879000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:151874000-151879200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:151874200-151876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:151874200-151877400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:151874200-151878000	Weak transcription	K562	blood
41	chr4:151874400-151878000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:151874600-151875400	Enhancers	Lung	lung
43	chr4:151874600-151882200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:151874800-151875000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:151875000-151879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:151875400-151876200	Weak transcription	Lung	lung
47	chr4:151876000-151876200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:151876000-151876600	Enhancers	HepG2	liver
49	chr4:151876200-151876400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:151876200-151876600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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