Variant report

Variant	rs57047618
Chromosome Location	chr18:29081760-29081761
allele	C/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:6)
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	chr18:29080935-29081826	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:29078512..29082072-chr18:29089360..29094851,6	K562	blood:
2	chr18:29062053..29064443-chr18:29081495..29083582,3	K562	blood:
3	chr18:29080297..29083464-chr18:29083547..29086345,4	K562	blood:
4	chr18:29077157..29080262-chr18:29081706..29084884,3	K562	blood:
5	chr18:29079215..29080950-chr18:29081744..29084257,2	MCF-7	breast:
6	chr18:29079737..29082965-chr18:29084557..29087491,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266521	TF binding region
ENSG00000046604	Chromatin interaction
ENSG00000266521	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502571	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2704054	1.00[ASN][1000 genomes]
rs56848605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59665004	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59698374	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416205	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093731	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29079800-29081800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr18:29080200-29081800	Enhancers	Pancreas	Pancrea
3	chr18:29080400-29081800	Enhancers	HepG2	liver
4	chr18:29080400-29081800	Genic enhancers	NHEK	skin
5	chr18:29080400-29085800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:29080400-29091000	Weak transcription	Colonic Mucosa	Colon
7	chr18:29080600-29081800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr18:29080600-29081800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:29080600-29081800	Flanking Active TSS	GM12878-XiMat	blood
10	chr18:29080600-29082800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:29080600-29083000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:29080600-29083200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr18:29080600-29084000	Weak transcription	K562	blood
14	chr18:29080600-29084400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr18:29080600-29084600	Weak transcription	Right Atrium	heart
16	chr18:29080600-29084600	Weak transcription	Right Ventricle	heart
17	chr18:29080600-29088400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:29080600-29088600	Weak transcription	HMEC	breast
19	chr18:29080600-29088800	Weak transcription	A549	lung
20	chr18:29080600-29089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:29080600-29093200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:29080600-29100000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr18:29080600-29100400	Weak transcription	Fetal Thymus	thymus
24	chr18:29080800-29081800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr18:29080800-29081800	Enhancers	Fetal Intestine Small	intestine
26	chr18:29080800-29084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr18:29080800-29084200	Weak transcription	Fetal Heart	heart
28	chr18:29080800-29084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr18:29080800-29084600	Weak transcription	Fetal Intestine Large	intestine
30	chr18:29080800-29084600	Weak transcription	Gastric	stomach
31	chr18:29080800-29088600	Weak transcription	Hela-S3	cervix
32	chr18:29080800-29092400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr18:29081000-29091400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr18:29081400-29081800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:29081400-29081800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:29081600-29084600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr18:29081600-29084600	Weak transcription	Stomach Mucosa	stomach
38	chr18:29081600-29092000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr18:29081600-29092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr18:29081600-29092200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:29081600-29093200	Weak transcription	H9 Cell Line	embryonic stem cell

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