Variant report

Variant	esv3342129
Chromosome Location	chr4:7338101-7340899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
2	chr4:7193870..7194671-chr4:7337290..7338117,4	MCF-7	breast:
3	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
4	chr4:7193774..7194640-chr4:7337221..7338106,5	K562	blood:

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs555981945	chr4:7338106-7338107	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs55866152	chr4:7338130-7338131	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544919362	chr4:7338131-7338132	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs563339073	chr4:7338140-7338141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs187635089	chr4:7338145-7338146	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs545902329	chr4:7338163-7338164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs111281057	chr4:7338177-7338178	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs563989051	chr4:7338182-7338183	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs56374230	chr4:7338201-7338202	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs55896277	chr4:7338208-7338209	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs546415062	chr4:7338228-7338229	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs191336762	chr4:7338291-7338292	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs113780371	chr4:7338306-7338307	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs56199633	chr4:7338309-7338310	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs534021185	chr4:7338322-7338323	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs529189656	chr4:7338325-7338326	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs138235696	chr4:7338363-7338364	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs569237642	chr4:7338376-7338377	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs542990771	chr4:7338401-7338402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55737231	chr4:7338418-7338419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73796650	chr4:7338432-7338433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551869281	chr4:7338455-7338456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561156894	chr4:7338458-7338459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566887196	chr4:7338467-7338468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146451502	chr4:7338493-7338494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3907645	chr4:7338501-7338502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs3907646	chr4:7338506-7338507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538550936	chr4:7338531-7338532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556535391	chr4:7338534-7338535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371131395	chr4:7338552-7338553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545512264	chr4:7338578-7338579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183485689	chr4:7338592-7338593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572644330	chr4:7338604-7338605	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs3907647	chr4:7338619-7338620	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139347398	chr4:7338624-7338625	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs529014686	chr4:7338626-7338627	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs76368871	chr4:7338632-7338633	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs143320884	chr4:7338646-7338647	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs369911693	chr4:7338689-7338690	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs533233378	chr4:7338699-7338700	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs566768535	chr4:7338700-7338701	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs551517280	chr4:7338701-7338702	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs536449263	chr4:7338713-7338714	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs527831808	chr4:7338720-7338721	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs147499058	chr4:7338752-7338753	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs549449694	chr4:7338759-7338760	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs148144445	chr4:7338771-7338772	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs4374625	chr4:7338833-7338834	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556698990	chr4:7338835-7338836	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs571883159	chr4:7338837-7338838	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7333600-7339200	Enhancers	Ovary	ovary
2	chr4:7333800-7338400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:7334400-7338800	Enhancers	Fetal Stomach	stomach
4	chr4:7335000-7339600	Weak transcription	Spleen	Spleen
5	chr4:7335200-7338200	Enhancers	Fetal Muscle Leg	muscle
6	chr4:7335600-7339200	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:7335600-7339600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:7335600-7340600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:7336000-7340800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:7336000-7346200	Weak transcription	NH-A	brain
11	chr4:7336800-7339200	Enhancers	Brain Substantia Nigra	brain
12	chr4:7337000-7339200	Enhancers	Brain Anterior Caudate	brain
13	chr4:7337200-7339800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:7337400-7338200	Enhancers	Liver	Liver
15	chr4:7337400-7338200	Enhancers	HMEC	breast
16	chr4:7337400-7342000	Weak transcription	Fetal Thymus	thymus
17	chr4:7337600-7339600	Weak transcription	Right Ventricle	heart
18	chr4:7337600-7343200	Weak transcription	Brain Angular Gyrus	brain
19	chr4:7338000-7339000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:7338000-7339200	Weak transcription	Esophagus	oesophagus
21	chr4:7338000-7339600	Weak transcription	Pancreas	Pancrea
22	chr4:7338000-7342200	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:7338000-7342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:7338000-7344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:7338200-7338800	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:7338600-7339000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr4:7338800-7339000	Enhancers	Fetal Muscle Leg	muscle
28	chr4:7339000-7339200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:7339200-7340000	Enhancers	Esophagus	oesophagus
30	chr4:7339200-7342000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:7339200-7342000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:7339200-7342000	Weak transcription	Brain Substantia Nigra	brain
33	chr4:7339200-7342200	Weak transcription	Brain Anterior Caudate	brain
34	chr4:7339600-7339800	Enhancers	Right Ventricle	heart
35	chr4:7339600-7340200	ZNF genes & repeats	Pancreas	Pancrea
36	chr4:7339600-7343200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:7339800-7342000	Weak transcription	Right Ventricle	heart
38	chr4:7340800-7341200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr4:7340800-7342000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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