Variant report

Variant	esv3510970
Chromosome Location	chr5:114745429-114749915
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	chr5:114749469..114752201-chr5:114879455..114881103,2	MCF-7	breast:
2	chr5:114749201..114751602-chr5:114786972..114789566,2	K562	blood:

Variant related genes	Relation type
ENSG00000145780	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557742480	chr5:114749427-114749428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571377274	chr5:114749434-114749435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142866459	chr5:114749455-114749456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553584392	chr5:114749480-114749481	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573809026	chr5:114749491-114749492	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2963775	chr5:114749496-114749497	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs376297188	chr5:114749513-114749514	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182645270	chr5:114749550-114749551	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566706969	chr5:114749571-114749572	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73258109	chr5:114749589-114749590	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564978848	chr5:114749590-114749591	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527681465	chr5:114749598-114749599	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs146046965	chr5:114749620-114749621	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561208247	chr5:114749624-114749625	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113649379	chr5:114749635-114749636	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550366887	chr5:114749695-114749696	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377733030	chr5:114749699-114749700	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532817054	chr5:114749711-114749712	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201087785	chr5:114749724-114749725	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552897227	chr5:114749729-114749730	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs70976375	chr5:114749739-114749740	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373626897	chr5:114749807-114749808	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571269076	chr5:114749824-114749825	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533533525	chr5:114749832-114749833	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547505706	chr5:114749840-114749841	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567215655	chr5:114749850-114749851	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536469635	chr5:114749866-114749867	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113093009	chr5:114749878-114749879	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140025255	chr5:114749884-114749885	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs56330440	chr5:114749896-114749897	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11317358	chr5:114749897-114749898	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2605198	chr5:114749904-114749905	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs558408476	chr5:114749905-114749906	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572435927	chr5:114749912-114749913	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114749400-114749600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:114749400-114749600	Enhancers	Small Intestine	intestine
3	chr5:114749400-114749800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:114749400-114751200	Enhancers	Fetal Muscle Leg	muscle
5	chr5:114749400-114751200	Enhancers	Left Ventricle	heart
6	chr5:114749400-114751400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:114749400-114751800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:114749400-114752000	Enhancers	Brain Angular Gyrus	brain
9	chr5:114749400-114753200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:114749400-114753200	Enhancers	NHLF	lung
11	chr5:114749400-114756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:114749600-114749800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:114749600-114749800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:114749600-114749800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:114749600-114750000	Enhancers	Duodenum Mucosa	Duodenum
16	chr5:114749600-114750000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:114749600-114750400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:114749600-114750800	Enhancers	Brain Substantia Nigra	brain
19	chr5:114749600-114751200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:114749600-114751200	Enhancers	Placenta	Placenta
21	chr5:114749600-114751200	Enhancers	Psoas Muscle	Psoas
22	chr5:114749600-114751200	Enhancers	HSMM	muscle
23	chr5:114749600-114751200	Enhancers	HSMMtube	muscle
24	chr5:114749600-114751400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:114749600-114751600	Enhancers	Right Ventricle	heart
26	chr5:114749600-114751600	Weak transcription	Small Intestine	intestine
27	chr5:114749600-114751800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:114749600-114751800	Enhancers	Fetal Heart	heart
29	chr5:114749600-114752800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:114749600-114752800	Enhancers	Fetal Intestine Small	intestine
31	chr5:114749600-114753000	Enhancers	Stomach Mucosa	stomach
32	chr5:114749600-114753000	Enhancers	NHDF-Ad	bronchial
33	chr5:114749600-114753400	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:114749600-114754000	Enhancers	Brain Hippocampus Middle	brain
35	chr5:114749600-114754200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:114749800-114750200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:114749800-114750200	Enhancers	Colon Smooth Muscle	Colon
38	chr5:114749800-114750200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:114749800-114750400	Active TSS	Colonic Mucosa	Colon
40	chr5:114749800-114750600	Enhancers	Brain Anterior Caudate	brain
41	chr5:114749800-114750600	Enhancers	Hela-S3	cervix
42	chr5:114749800-114750800	Active TSS	Rectal Smooth Muscle	rectum
43	chr5:114749800-114751000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:114749800-114751000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr5:114749800-114751000	Enhancers	Right Atrium	heart
46	chr5:114749800-114751200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:114749800-114751200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:114749800-114751200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:114749800-114751200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:114749800-114751200	Enhancers	Stomach Smooth Muscle	stomach

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