Variant report

Variant	esv3323594
Chromosome Location	chr4:8036952-8041450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8039157..8040706-chr4:8050002..8052437,2	K562	blood:
2	chr4:8024330..8026063-chr4:8034890..8037450,2	MCF-7	breast:
3	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
4	chr4:8030886..8034532-chr4:8039153..8041983,3	MCF-7	breast:
5	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273267	chromatin interactions

Extended variants
information (count: 261 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564253750	chr4:8036963-8036964	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182287839	chr4:8037001-8037002	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573423791	chr4:8037029-8037030	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540724087	chr4:8037042-8037043	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1878324	chr4:8037056-8037057	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529306238	chr4:8037057-8037058	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187366948	chr4:8037072-8037073	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35963671	chr4:8037139-8037140	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563228785	chr4:8037142-8037143	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35900792	chr4:8037173-8037174	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533434548	chr4:8037195-8037196	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551604901	chr4:8037223-8037224	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34944467	chr4:8037255-8037256	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144709621	chr4:8037266-8037267	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35449783	chr4:8037272-8037273	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs36027498	chr4:8037316-8037317	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374302889	chr4:8037325-8037326	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535448705	chr4:8037375-8037376	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147472338	chr4:8037378-8037379	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575525725	chr4:8037379-8037380	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191792315	chr4:8037413-8037414	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558027301	chr4:8037425-8037426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573086579	chr4:8037433-8037434	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567208137	chr4:8037483-8037484	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540397843	chr4:8037517-8037518	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562225004	chr4:8037597-8037598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139979261	chr4:8037604-8037605	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544621490	chr4:8037608-8037609	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562735962	chr4:8037666-8037667	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533720446	chr4:8037693-8037694	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115339566	chr4:8037695-8037696	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113177023	chr4:8037717-8037718	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527902585	chr4:8037726-8037727	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549132267	chr4:8037735-8037736	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568183698	chr4:8037750-8037751	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145333623	chr4:8037783-8037784	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552932178	chr4:8037785-8037786	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550599456	chr4:8037813-8037814	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537781316	chr4:8037824-8037825	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182327068	chr4:8037830-8037831	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377618747	chr4:8037831-8037832	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369017918	chr4:8037839-8037840	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541626187	chr4:8037845-8037846	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200156313	chr4:8037848-8037849	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371034954	chr4:8037855-8037856	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375392353	chr4:8037866-8037867	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534009379	chr4:8037867-8037868	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376985026	chr4:8037870-8037871	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185186442	chr4:8037882-8037883	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200191701	chr4:8037944-8037945	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
2	chr4:8012400-8039000	Weak transcription	Gastric	stomach
3	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
4	chr4:8022000-8037600	Weak transcription	Lung	lung
5	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
6	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
7	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:8023800-8037200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:8023800-8041200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:8029800-8046600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:8030400-8039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:8030800-8037600	Weak transcription	Fetal Intestine Small	intestine
14	chr4:8031200-8052000	Weak transcription	Psoas Muscle	Psoas
15	chr4:8033400-8037000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:8034600-8039000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:8035000-8039400	Strong transcription	Pancreas	Pancrea
18	chr4:8035400-8038000	Genic enhancers	Spleen	Spleen
19	chr4:8035600-8038000	Strong transcription	Aorta	Aorta
20	chr4:8036200-8037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8036200-8040800	Weak transcription	Brain Anterior Caudate	brain
22	chr4:8036200-8045000	Weak transcription	Esophagus	oesophagus
23	chr4:8036600-8038000	Strong transcription	Right Ventricle	heart
24	chr4:8036800-8037000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:8036800-8037400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:8036800-8037400	Enhancers	GM12878-XiMat	blood
27	chr4:8036800-8037600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:8036800-8037600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr4:8036800-8037600	Enhancers	Dnd41	blood
30	chr4:8036800-8037800	Enhancers	Primary B cells from peripheral blood	blood
31	chr4:8036800-8037800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:8036800-8037800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:8036800-8037800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:8036800-8037800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:8036800-8037800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:8036800-8037800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:8036800-8037800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:8036800-8038000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:8036800-8038000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr4:8036800-8038000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:8036800-8038000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:8036800-8038000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:8036800-8038000	Enhancers	HSMM	muscle
44	chr4:8036800-8038000	Enhancers	Osteobl	bone
45	chr4:8036800-8038200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:8036800-8038200	Enhancers	HMEC	breast
47	chr4:8036800-8038600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:8037000-8037200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:8037000-8037200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr4:8037000-8037400	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links