Variant report

Variant	rs9591290
Chromosome Location	chr13:50243477-50243478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50242666..50244239-chr13:50569416..50571466,2	MCF-7	breast:
2	chr13:50242498..50244504-chr13:50366051..50367551,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs9316472	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9562909	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9562910	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9562911	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568299	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568300	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9568301	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596170	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9596171	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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
5	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv541772	chr13:50218255-50264414	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9591290	EBPL	cis	Thyroid	GTEx
rs9591290	EBPL	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50220000-50245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr13:50224600-50252600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:50226400-50244000	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:50227400-50253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:50228600-50244000	Weak transcription	Fetal Kidney	kidney
6	chr13:50231000-50246800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:50231800-50256000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:50234200-50244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:50234400-50243600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:50234400-50245400	Weak transcription	Psoas Muscle	Psoas
11	chr13:50235400-50252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:50235600-50259800	Weak transcription	Right Ventricle	heart
13	chr13:50236000-50244000	Weak transcription	Brain Anterior Caudate	brain
14	chr13:50237000-50256600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr13:50237400-50256000	Weak transcription	NH-A	brain
16	chr13:50238800-50253000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:50239400-50243800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:50240600-50253400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:50240800-50244200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr13:50240800-50246400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:50241000-50264800	Weak transcription	Aorta	Aorta
22	chr13:50241600-50245800	Weak transcription	Hela-S3	cervix
23	chr13:50241600-50249800	Weak transcription	GM12878-XiMat	blood
24	chr13:50241800-50253400	Weak transcription	Esophagus	oesophagus
25	chr13:50241800-50256000	Weak transcription	HMEC	breast
26	chr13:50242000-50244000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:50242000-50244000	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:50242000-50244400	Weak transcription	Fetal Brain Male	brain
29	chr13:50242000-50254000	Weak transcription	Fetal Brain Female	brain
30	chr13:50242200-50243800	Weak transcription	HUVEC	blood vessel
31	chr13:50242200-50244000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:50242200-50244000	Weak transcription	Fetal Lung	lung
33	chr13:50242200-50244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:50242200-50244400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr13:50242200-50245200	Weak transcription	Ovary	ovary
36	chr13:50242200-50246000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr13:50242200-50246200	Weak transcription	Placenta	Placenta
38	chr13:50242200-50249000	Weak transcription	NHEK	skin
39	chr13:50242200-50251200	Weak transcription	Pancreas	Pancrea
40	chr13:50242200-50251200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr13:50242200-50251400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr13:50242200-50252000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:50242200-50253000	Weak transcription	Fetal Thymus	thymus
44	chr13:50242200-50253400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr13:50242200-50256200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:50242200-50260600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr13:50242200-50261000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr13:50242200-50261400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr13:50242200-50264200	Weak transcription	K562	blood
50	chr13:50242200-50264400	Weak transcription	Placenta Amnion	Placenta Amnion

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