Variant report

Variant	rs12593481
Chromosome Location	chr15:50718276-50718277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:50718206-50718403	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr15:50718058-50718463	K562	blood:	n/a	n/a
3	CEBPB	chr15:50718166-50718411	K562	blood:	n/a	n/a
4	CEBPB	chr15:50718228-50718368	IMR90	lung:	n/a	n/a
5	CEBPB	chr15:50718083-50718698	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:50644978..50654282-chr15:50714279..50723145,48	MCF-7	breast:
2	chr15:50644601..50650486-chr15:50714318..50720349,10	K562	blood:
3	chr15:50714855..50718759-chr15:50728296..50731650,9	MCF-7	breast:
4	chr15:50644770..50653815-chr15:50713287..50720249,51	MCF-7	breast:
5	chr15:50644809..50652796-chr15:50713240..50720627,20	K562	blood:

No data

Variant related genes	Relation type
USP8	TF binding region
ENSG00000104064	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000259715	Chromatin interaction
ENSG00000264109	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11070776	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2289108	0.82[ASN][1000 genomes]
rs28582911	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3098167	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3098168	0.85[AMR][1000 genomes]
rs3098169	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3098171	0.84[ASN][1000 genomes]
rs3098177	0.82[ASN][1000 genomes]
rs3098205	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3131560	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3131566	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3131567	0.82[AMR][1000 genomes]
rs3131568	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3131574	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7174015	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8026653	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS 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	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50715600-50718400	Active TSS	Hela-S3	cervix
2	chr15:50715800-50718400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:50715800-50718400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:50715800-50718400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:50716000-50718600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:50716000-50718600	Active TSS	K562	blood
7	chr15:50716200-50719200	Active TSS	GM12878-XiMat	blood
8	chr15:50716800-50718800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr15:50717000-50718600	Weak transcription	Spleen	Spleen
10	chr15:50717000-50726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:50717400-50718600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:50717400-50722600	Weak transcription	Esophagus	oesophagus
13	chr15:50717400-50722600	Weak transcription	Lung	lung
14	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
15	chr15:50717600-50718800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr15:50717600-50718800	Enhancers	Primary B cells from peripheral blood	blood
17	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
19	chr15:50717800-50718400	Enhancers	Fetal Heart	heart
20	chr15:50717800-50718400	Weak transcription	Fetal Intestine Small	intestine
21	chr15:50717800-50718400	Enhancers	Fetal Muscle Trunk	muscle
22	chr15:50717800-50718400	Enhancers	Placenta	Placenta
23	chr15:50717800-50718400	Enhancers	Gastric	stomach
24	chr15:50717800-50718400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:50717800-50718400	Active TSS	HepG2	liver
26	chr15:50717800-50718600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:50717800-50718600	Enhancers	Primary B cells from cord blood	blood
28	chr15:50717800-50718600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr15:50717800-50718600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:50717800-50718600	Weak transcription	Fetal Stomach	stomach
31	chr15:50717800-50718600	Weak transcription	Psoas Muscle	Psoas
32	chr15:50717800-50718800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr15:50717800-50718800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:50717800-50718800	Enhancers	Adipose Nuclei	Adipose
35	chr15:50717800-50718800	Weak transcription	Brain Germinal Matrix	brain
36	chr15:50717800-50718800	Enhancers	Colon Smooth Muscle	Colon
37	chr15:50717800-50718800	Enhancers	Left Ventricle	heart
38	chr15:50717800-50718800	Weak transcription	HSMM	muscle
39	chr15:50717800-50719000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:50717800-50719000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:50717800-50719000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:50717800-50719000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr15:50717800-50719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:50717800-50719000	Enhancers	Ovary	ovary
45	chr15:50717800-50719000	Enhancers	Right Ventricle	heart
46	chr15:50717800-50719200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr15:50717800-50719600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:50717800-50719600	Enhancers	Brain Angular Gyrus	brain
49	chr15:50717800-50719800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr15:50717800-50721000	Weak transcription	Rectal Smooth Muscle	rectum

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