Variant report

Variant	rs9568301
Chromosome Location	chr13:50245359-50245360
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	chr13:50244133..50245695-chr13:50352710..50354837,2	MCF-7	breast:
2	chr13:50243856..50246257-chr13:50421112..50423233,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs9316472	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9562909	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9562910	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9562911	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568299	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568300	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9591290	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596166	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596170	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9596171	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9568301	EBPL	cis	Skin Sun Exposed Lower leg	GTEx
rs9568301	EBPL	cis	Artery Tibial	GTEx
rs9568301	EBPL	cis	Thyroid	GTEx

Chromatin state (count:109 , 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	chr13:50227400-50253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:50231000-50246800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr13:50231800-50256000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:50234400-50245400	Weak transcription	Psoas Muscle	Psoas
7	chr13:50235400-50252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:50235600-50259800	Weak transcription	Right Ventricle	heart
9	chr13:50237000-50256600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr13:50237400-50256000	Weak transcription	NH-A	brain
11	chr13:50238800-50253000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:50240600-50253400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:50240800-50246400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:50241000-50264800	Weak transcription	Aorta	Aorta
15	chr13:50241600-50245800	Weak transcription	Hela-S3	cervix
16	chr13:50241600-50249800	Weak transcription	GM12878-XiMat	blood
17	chr13:50241800-50253400	Weak transcription	Esophagus	oesophagus
18	chr13:50241800-50256000	Weak transcription	HMEC	breast
19	chr13:50242000-50254000	Weak transcription	Fetal Brain Female	brain
20	chr13:50242200-50246000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr13:50242200-50246200	Weak transcription	Placenta	Placenta
22	chr13:50242200-50249000	Weak transcription	NHEK	skin
23	chr13:50242200-50251200	Weak transcription	Pancreas	Pancrea
24	chr13:50242200-50251200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:50242200-50251400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:50242200-50252000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:50242200-50253000	Weak transcription	Fetal Thymus	thymus
28	chr13:50242200-50253400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr13:50242200-50256200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:50242200-50260600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr13:50242200-50261000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr13:50242200-50261400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr13:50242200-50264200	Weak transcription	K562	blood
34	chr13:50242200-50264400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr13:50242200-50264400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:50242400-50246800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr13:50242400-50246800	Weak transcription	HepG2	liver
38	chr13:50242400-50248200	Weak transcription	Colonic Mucosa	Colon
39	chr13:50242400-50248800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:50242400-50248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:50242400-50248800	Weak transcription	Primary B cells from cord blood	blood
42	chr13:50242400-50249000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr13:50242400-50249000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:50242400-50249000	Weak transcription	Primary T cells from cord blood	blood
45	chr13:50242400-50249000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr13:50242400-50249000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:50242400-50249000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:50242400-50249000	Weak transcription	Dnd41	blood
49	chr13:50242400-50249000	Weak transcription	NHLF	lung
50	chr13:50242400-50249800	Weak transcription	Primary B cells from peripheral blood	blood

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