Variant report

Variant	rs7983905
Chromosome Location	chr13:50266544-50266545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:50266453-50266606	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50265861..50268328-chr13:50270535..50273310,2	K562	blood:
2	chr13:50266035..50267824-chr13:50362193..50365135,2	K562	blood:
3	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
4	chr13:50265747..50268429-chr13:50268822..50272035,3	K562	blood:
5	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:

No data

Variant related genes	Relation type
EBPL	TF binding region
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12585586	0.90[ASN][1000 genomes]
rs3809325	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7982132	0.88[ASN][1000 genomes]
rs7983918	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9535304	0.88[ASN][1000 genomes]
rs9535308	0.88[ASN][1000 genomes]
rs9535313	0.88[ASN][1000 genomes]
rs9568313	0.88[ASN][1000 genomes]
rs9596183	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7983905	EBPL	cis	Artery Tibial	GTEx
rs7983905	EBPL	cis	Nerve Tibial	GTEx
rs7983905	EBPL	cis	Adipose Subcutaneous	GTEx
rs7983905	EBPL	cis	Artery Aorta	GTEx
rs7983905	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs7983905	EBPL	cis	Thyroid	GTEx
rs7983905	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs7983905	EBPL	cis	Esophagus Muscularis	GTEx
rs7983905	EBPL	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50265600-50267600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:50266000-50266600	Flanking Active TSS	NHEK	skin
3	chr13:50266000-50268200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:50266000-50273000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:50266000-50278200	Weak transcription	Lung	lung
6	chr13:50266000-50284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:50266200-50266600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr13:50266200-50266800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:50266200-50266800	Enhancers	Colon Smooth Muscle	Colon
10	chr13:50266200-50267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:50266200-50267400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:50266200-50267400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr13:50266200-50267600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:50266200-50267600	Weak transcription	Osteobl	bone
15	chr13:50266200-50268400	Enhancers	HUVEC	blood vessel
16	chr13:50266200-50269000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr13:50266200-50269000	Enhancers	Primary hematopoietic stem cells	blood
18	chr13:50266200-50269000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr13:50266200-50270000	Weak transcription	HSMM	muscle
20	chr13:50266200-50270800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:50266200-50271200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:50266200-50271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:50266200-50271400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:50266200-50271400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:50266200-50271400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:50266200-50271400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:50266200-50271400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:50266200-50271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:50266200-50271800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:50266200-50272000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:50266200-50272000	Weak transcription	Fetal Heart	heart
32	chr13:50266200-50272200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:50266200-50272200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:50266200-50272200	Weak transcription	Fetal Intestine Large	intestine
35	chr13:50266200-50272200	Weak transcription	Fetal Stomach	stomach
36	chr13:50266200-50272200	Weak transcription	Left Ventricle	heart
37	chr13:50266200-50272200	Weak transcription	NH-A	brain
38	chr13:50266200-50272600	Weak transcription	Fetal Intestine Small	intestine
39	chr13:50266200-50272800	Weak transcription	Aorta	Aorta
40	chr13:50266200-50272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:50266200-50273000	Weak transcription	Adipose Nuclei	Adipose
42	chr13:50266200-50273000	Weak transcription	Ovary	ovary
43	chr13:50266200-50274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:50266200-50274400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr13:50266200-50275000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr13:50266200-50275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:50266200-50275000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr13:50266200-50275000	Weak transcription	Fetal Brain Male	brain
49	chr13:50266200-50275000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr13:50266200-50275000	Weak transcription	Thymus	Thymus

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