Variant report

Variant	esv3353990
Chromosome Location	chr4:8420042-8420501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:8420105-8420219	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8419092..8423241-chr4:8430004..8433236,3	MCF-7	breast:
2	chr4:8268685..8271204-chr4:8420095..8422355,2	MCF-7	breast:

Variant related genes	Relation type
ACOX3	TF binding region
ENSG00000087008	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184800353	chr4:8420052-8420053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560462477	chr4:8420058-8420059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527297543	chr4:8420101-8420102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542227377	chr4:8420119-8420120	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs561039316	chr4:8420135-8420136	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188677824	chr4:8420136-8420137	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549838327	chr4:8420137-8420138	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs571554039	chr4:8420180-8420181	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs77770008	chr4:8420185-8420186	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35837790	chr4:8420187-8420188	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs532545455	chr4:8420225-8420226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373113690	chr4:8420233-8420234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs180715741	chr4:8420268-8420269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376278356	chr4:8420281-8420282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531853198	chr4:8420283-8420284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183688213	chr4:8420290-8420291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373781141	chr4:8420323-8420324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554627315	chr4:8420325-8420326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189133568	chr4:8420352-8420353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558989152	chr4:8420353-8420354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577949203	chr4:8420361-8420362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563638254	chr4:8420413-8420414	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367931568	chr4:8420447-8420448	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2688227	chr4:8420462-8420463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs375628162	chr4:8420488-8420489	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554127872	chr4:8420491-8420492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8397600-8420400	Weak transcription	NHDF-Ad	bronchial
2	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:8404800-8420600	Weak transcription	Psoas Muscle	Psoas
5	chr4:8408800-8422400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:8412400-8421000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:8412800-8420600	Weak transcription	K562	blood
8	chr4:8412800-8425600	Weak transcription	Fetal Heart	heart
9	chr4:8413000-8423400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:8416400-8421400	Weak transcription	HSMM	muscle
11	chr4:8416400-8428000	Weak transcription	Fetal Brain Male	brain
12	chr4:8416800-8421200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:8416800-8421400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:8416800-8429000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:8416800-8429000	Weak transcription	Brain Substantia Nigra	brain
16	chr4:8416800-8429000	Weak transcription	Fetal Kidney	kidney
17	chr4:8416800-8429000	Weak transcription	HUVEC	blood vessel
18	chr4:8417000-8420800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:8417000-8421200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:8417000-8421600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:8417000-8428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:8417000-8429000	Weak transcription	Small Intestine	intestine
23	chr4:8417200-8421200	Weak transcription	NHLF	lung
24	chr4:8417600-8428800	Weak transcription	Dnd41	blood
25	chr4:8417800-8421200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:8417800-8421400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:8417800-8421400	Weak transcription	NH-A	brain
28	chr4:8417800-8428400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:8417800-8428800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:8417800-8428800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:8417800-8429000	Weak transcription	Primary B cells from cord blood	blood
32	chr4:8417800-8429000	Weak transcription	Colonic Mucosa	Colon
33	chr4:8417800-8429000	Weak transcription	HSMMtube	muscle
34	chr4:8417800-8429200	Weak transcription	Fetal Lung	lung
35	chr4:8418000-8421200	Weak transcription	HepG2	liver
36	chr4:8418000-8421200	Weak transcription	Osteobl	bone
37	chr4:8418000-8421400	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:8418000-8421400	Weak transcription	Left Ventricle	heart
39	chr4:8418000-8428400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:8418000-8428800	Weak transcription	Stomach Mucosa	stomach
41	chr4:8418000-8429000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:8418000-8429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:8418000-8429000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:8418200-8420400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:8418200-8421200	Weak transcription	Gastric	stomach
46	chr4:8418200-8421200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:8418200-8421400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:8418200-8421400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:8418200-8421400	Weak transcription	Adipose Nuclei	Adipose
50	chr4:8418200-8421400	Weak transcription	Right Ventricle	heart

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