Variant report

Variant	esv3353514
Chromosome Location	chr4:7791051-7791224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7790898..7792455-chr4:7794012..7795584,2	K562	blood:
2	chr4:7784424..7786891-chr4:7788959..7792253,4	K562	blood:

Variant related genes	Relation type
ENSG00000196526	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563643697	chr4:7791056-7791057	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184466836	chr4:7791064-7791065	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546476660	chr4:7791085-7791086	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564670628	chr4:7791106-7791107	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7684718	chr4:7791113-7791114	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576875005	chr4:7791118-7791119	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140210999	chr4:7791119-7791120	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529733373	chr4:7791129-7791130	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7654361	chr4:7791130-7791131	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569276999	chr4:7791140-7791141	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112802740	chr4:7791164-7791165	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559436273	chr4:7791165-7791166	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113221381	chr4:7791168-7791169	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111989580	chr4:7791174-7791175	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200003064	chr4:7791188-7791189	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555577955	chr4:7791194-7791195	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558384026	chr4:7791222-7791223	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
2	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
3	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:7776400-7799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:7776400-7800000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:7776400-7806800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:7780200-7794400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:7780600-7800200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:7781000-7800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:7781200-7796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:7781400-7800400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:7781400-7801000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:7781400-7801200	Weak transcription	Brain Anterior Caudate	brain
14	chr4:7781600-7791400	Strong transcription	Fetal Intestine Large	intestine
15	chr4:7781600-7807400	Weak transcription	Brain Angular Gyrus	brain
16	chr4:7783400-7794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:7783400-7798800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:7783400-7799200	Weak transcription	HepG2	liver
19	chr4:7783800-7806200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:7784000-7792800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:7784000-7794200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:7784000-7794400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:7784000-7801800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:7784000-7821200	Weak transcription	Small Intestine	intestine
25	chr4:7784200-7797800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:7784200-7800600	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:7784200-7800600	Weak transcription	Esophagus	oesophagus
28	chr4:7784200-7802200	Weak transcription	Aorta	Aorta
29	chr4:7784200-7802800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr4:7784400-7791800	Strong transcription	Fetal Stomach	stomach
31	chr4:7784400-7794000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:7784600-7791400	Strong transcription	A549	lung
33	chr4:7784800-7791400	Strong transcription	NHLF	lung
34	chr4:7784800-7792800	Strong transcription	NH-A	brain
35	chr4:7784800-7803400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:7785200-7791200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:7785200-7791600	Strong transcription	Fetal Muscle Leg	muscle
38	chr4:7785200-7791800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:7785200-7791800	Strong transcription	Fetal Intestine Small	intestine
40	chr4:7785200-7796200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:7785400-7791600	Strong transcription	Gastric	stomach
42	chr4:7785800-7792800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:7785800-7795800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:7785800-7803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:7786000-7791600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:7786000-7793800	Weak transcription	Fetal Heart	heart
47	chr4:7786000-7800800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:7786800-7795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:7787200-7792600	Weak transcription	Brain Cingulate Gyrus	brain

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