Variant report

Variant	esv4689
Chromosome Location	chr5:177875087-177875566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr5:177875533-177875840	K562	blood:	n/a	n/a
2	EP300	chr5:177875430-177877493	SK-N-SH	brain:	n/a	chr5:177875954-177875968
3	NR3C1	chr5:177875021-177875635	A549	lung:	n/a	n/a
4	PAX5	chr5:177875017-177875526	GM12878	blood:	n/a	n/a
5	REST	chr5:177875131-177875456	PANC-1	pancreas:	n/a	n/a
6	SIX5	chr5:177875082-177875485	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177875140-177875190	PrEC	prostate:	n/a
2	chr5:177875440-177875490	HCF	heart:	n/a
3	chr5:177875440-177875490	SK-N-SH	brain:	n/a
4	chr5:177875440-177875490	HIPEpiC	eye:	n/a
5	chr5:177875440-177875490	PFSK-1	brain:	n/a
6	chr5:177875440-177875490	AG09309	skin:	n/a
7	chr5:177875440-177875490	K562	blood:	n/a
8	chr5:177875440-177875490	CMK	blood:	n/a
9	chr5:177875440-177875490	HUVEC	blood vessel:	n/a
10	chr5:177875140-177875190	HPAEpiC	pulmonary alveolar:	n/a
11	chr5:177875440-177875490	NHDF-neo	bronchial:	n/a
12	chr5:177875140-177875190	SK-N-MC	brain:	n/a
13	chr5:177875140-177875190	HNPCEpiC	eye:	n/a
14	chr5:177875440-177875490	HNPCEpiC	eye:	n/a
15	chr5:177875440-177875490	HEK293	kidney:	embryo
16	chr5:177875140-177875190	ProgFib	skin:	n/a
17	chr5:177875140-177875190	HCT-116	colon:	n/a
18	chr5:177875440-177875490	U87	brain:	n/a
19	chr5:177875440-177875490	HCT-116	colon:	n/a
20	chr5:177875140-177875190	PFSK-1	brain:	n/a
21	chr5:177875440-177875490	Caco-2	colon:	n/a
22	chr5:177875140-177875190	GM12891	blood:	n/a
23	chr5:177875440-177875490	Hela-S3	cervix:	n/a
24	chr5:177875440-177875490	AG04449	skin:	fetal
25	chr5:177875440-177875490	RPTEC	kidney:	n/a
26	chr5:177875140-177875190	GM19239	blood:	n/a
27	chr5:177875440-177875490	HRPEpiC	eye:	n/a
28	chr5:177875140-177875190	GM12878	blood:	n/a
29	chr5:177875140-177875190	H1-hESC	embryonic stem cell:	embryo
30	chr5:177875440-177875490	MCF10A-Er-Src	breast:	n/a
31	chr5:177875440-177875490	ovcar-3	ovarian:	n/a
32	chr5:177875140-177875190	HL-60	blood:	n/a
33	chr5:177875140-177875190	NT2-D1	testis:	n/a
34	chr5:177875440-177875490	Jurkat	blood:	n/a
35	chr5:177875440-177875490	SAEC	small airway:	n/a
36	chr5:177875140-177875190	HEK293	kidney:	embryo
37	chr5:177875140-177875190	AG04450	lung:	fetal
38	chr5:177875140-177875190	U87	brain:	n/a
39	chr5:177875140-177875190	A549	lung:	n/a
40	chr5:177875440-177875490	BE2_C	brain:	n/a
41	chr5:177875440-177875490	HRE	kidney:	n/a
42	chr5:177875140-177875190	HUVEC	blood vessel:	n/a
43	chr5:177875140-177875190	AG04449	skin:	fetal
44	chr5:177875440-177875490	AG04450	lung:	fetal
45	chr5:177875440-177875490	SKMC	muscle:	n/a
46	chr5:177875140-177875190	RPTEC	kidney:	n/a
47	chr5:177875140-177875190	SK-N-SH	brain:	n/a
48	chr5:177875440-177875490	ECC-1	luminal epithelium:	n/a
49	chr5:177875140-177875190	T-47D	breast:	n/a
50	chr5:177875140-177875190	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177873433..177876156-chr5:177880110..177882555,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245688	TF binding region
ENSG00000245688	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559158822	chr5:177875089-177875090	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs532937156	chr5:177875094-177875095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185545176	chr5:177875111-177875112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564568473	chr5:177875117-177875118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112235660	chr5:177875121-177875122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375218079	chr5:177875147-177875148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113268776	chr5:177875151-177875152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56410177	chr5:177875179-177875180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113538687	chr5:177875181-177875182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55652110	chr5:177875200-177875201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112600919	chr5:177875211-177875212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11958324	chr5:177875241-177875242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11958330	chr5:177875271-177875272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10063547	chr5:177875291-177875292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112197790	chr5:177875298-177875299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113886736	chr5:177875301-177875302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111963727	chr5:177875331-177875332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112634239	chr5:177875361-177875362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111406003	chr5:177875391-177875392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529654071	chr5:177875411-177875412	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548093137	chr5:177875416-177875417	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs58754033	chr5:177875418-177875419	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112890345	chr5:177875421-177875422	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143987829	chr5:177875431-177875432	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144915146	chr5:177875440-177875441	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190257564	chr5:177875441-177875442	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569688067	chr5:177875443-177875444	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs11956256	chr5:177875446-177875447	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111755587	chr5:177875451-177875452	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143160317	chr5:177875474-177875475	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534371360	chr5:177875478-177875479	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs573288897	chr5:177875489-177875490	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575843762	chr5:177875515-177875516	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182702411	chr5:177875526-177875527	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs116122700	chr5:177875530-177875531	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545146041	chr5:177875545-177875546	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11956284	chr5:177875552-177875553	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187646440	chr5:177875558-177875559	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177856800-177887200	Weak transcription	Right Atrium	heart
2	chr5:177866600-177876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:177869400-177876200	Weak transcription	Brain Angular Gyrus	brain
4	chr5:177871200-177875600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:177871800-177880600	Weak transcription	Fetal Thymus	thymus
6	chr5:177874600-177875400	Enhancers	K562	blood
7	chr5:177874600-177888200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:177874800-177876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:177875400-177875800	Flanking Active TSS	K562	blood

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