Variant report

Variant	esv3388650
Chromosome Location	chr5:167740929-167741165
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	POLR2A	chr5:167740963-167741150	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:167740911-167741111	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF12	chr5:167740717-167741308	A549	lung:	n/a	n/a
4	ZNF263	chr5:167740889-167741293	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
2	chr5:167738439..167740014-chr5:167740372..167743298,2	MCF-7	breast:
3	chr5:167717383..167719281-chr5:167739478..167741146,2	K562	blood:
4	chr5:167695818..167698583-chr5:167740233..167742676,2	MCF-7	breast:

Variant related genes	Relation type
WWC1	TF binding region
ENSG00000113645	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77932860	chr5:167740954-167740955	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569266155	chr5:167741017-167741018	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373123124	chr5:167741018-167741019	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531992611	chr5:167741023-167741024	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs17832301	chr5:167741044-167741045	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565963583	chr5:167741050-167741051	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116606163	chr5:167741061-167741062	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554734549	chr5:167741062-167741063	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113378506	chr5:167741066-167741067	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150290945	chr5:167741069-167741070	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs34509932	chr5:167741083-167741084	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542907104	chr5:167741143-167741144	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	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
Ovarian cancer	21720365	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16865294	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
Epilepsy	20502679	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167727600-167742600	Weak transcription	Fetal Brain Female	brain
2	chr5:167729400-167741000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167729400-167741000	Weak transcription	Fetal Lung	lung
4	chr5:167731000-167741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:167734200-167746000	Enhancers	Fetal Intestine Large	intestine
6	chr5:167734400-167746600	Enhancers	Fetal Intestine Small	intestine
7	chr5:167736400-167741600	Enhancers	Liver	Liver
8	chr5:167736600-167741000	Genic enhancers	A549	lung
9	chr5:167738200-167741000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:167738200-167741600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:167738200-167741600	Weak transcription	Fetal Kidney	kidney
12	chr5:167738200-167742200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:167738200-167747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:167738400-167741000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:167738400-167741000	Weak transcription	Gastric	stomach
16	chr5:167738400-167741000	Weak transcription	Lung	lung
17	chr5:167738400-167741600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:167738400-167741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:167738400-167744400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:167738600-167741000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:167738600-167741600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:167738600-167741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:167739200-167741000	Enhancers	Hela-S3	cervix
24	chr5:167739400-167741600	Enhancers	Osteobl	bone
25	chr5:167739400-167741800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:167739400-167742800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:167739400-167745000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:167739600-167741000	Weak transcription	NHDF-Ad	bronchial
29	chr5:167739600-167741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:167739600-167743600	Enhancers	HSMM	muscle
31	chr5:167739600-167745000	Enhancers	Pancreas	Pancrea
32	chr5:167739800-167741000	Weak transcription	Brain Anterior Caudate	brain
33	chr5:167739800-167742000	Weak transcription	HSMMtube	muscle
34	chr5:167739800-167745200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:167740000-167741600	Enhancers	HepG2	liver
36	chr5:167740000-167742800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:167740200-167741600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:167740200-167742800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:167740200-167743000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:167740200-167744400	Weak transcription	Right Atrium	heart
41	chr5:167740200-167744800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:167740200-167745600	Enhancers	NH-A	brain
43	chr5:167740400-167742000	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:167740600-167742400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:167740600-167742600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:167740800-167741000	Enhancers	Duodenum Mucosa	Duodenum
47	chr5:167740800-167741000	Enhancers	NHEK	skin
48	chr5:167740800-167741600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:167740800-167741600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:167740800-167741800	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links