Variant report

Variant	rs1129117
Chromosome Location	chr1:151828793-151828794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:151828514-151828830	HepG2	liver:	n/a	chr1:151828652-151828667
2	GATA1	chr1:151827889-151828946	PBDE	blood:	n/a	chr1:151828210-151828227
3	ESR1	chr1:151828046-151828845	T-47D	breast:	n/a	n/a
4	MAFF	chr1:151828509-151828831	K562	blood:	n/a	chr1:151828651-151828669
5	CUX1	chr1:151828532-151828891	K562	blood:	n/a	n/a
6	MAFK	chr1:151828516-151828827	IMR90	lung:	n/a	chr1:151828652-151828667
7	MAFF	chr1:151828487-151828832	HepG2	liver:	n/a	chr1:151828651-151828669
8	ESR1	chr1:151828052-151828814	T-47D	breast:	n/a	n/a
9	MAFK	chr1:151828515-151828833	HepG2	liver:	n/a	chr1:151828652-151828667
10	MAFK	chr1:151828504-151828826	K562	blood:	n/a	chr1:151828652-151828667
11	ESR1	chr1:151828052-151828867	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151828500..151832022-chr1:151833324..151837098,3	K562	blood:
2	chr1:151803331..151805631-chr1:151828427..151830416,2	MCF-7	breast:
3	chr1:151822836..151827671-chr1:151828332..151832187,5	K562	blood:
4	chr1:151827756..151830746-chr1:151848383..151850324,3	MCF-7	breast:

Variant related genes	Relation type
THEM5	TF binding region
ENSG00000143365	Chromatin interaction
ENSG00000196407	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1056037	0.84[ASN][1000 genomes]
rs12567049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727170	0.81[ASN][1000 genomes]
rs16833584	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16833599	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16833604	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279503	0.84[ASN][1000 genomes]
rs2879130	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60166269	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815147	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587625	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7524706	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556386	0.85[ASN][1000 genomes]
rs923547	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998500	0.82[ASN][1000 genomes]
rs998501	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
2	chr1:151821000-151830600	Weak transcription	Right Atrium	heart
3	chr1:151821400-151832400	Weak transcription	Spleen	Spleen
4	chr1:151821600-151845600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:151826400-151829000	Weak transcription	Placenta	Placenta
6	chr1:151826400-151846200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:151827000-151828800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:151827200-151829200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:151827600-151828800	Enhancers	Fetal Lung	lung
10	chr1:151827600-151829000	Enhancers	K562	blood
11	chr1:151827600-151829800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:151827600-151839800	Weak transcription	Hela-S3	cervix
13	chr1:151827800-151828800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:151827800-151829000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:151827800-151829000	Enhancers	Adipose Nuclei	Adipose
16	chr1:151827800-151829200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:151827800-151829200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:151828000-151829200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:151828200-151828800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:151828200-151828800	Enhancers	HSMMtube	muscle
21	chr1:151828200-151828800	Enhancers	Osteobl	bone
22	chr1:151828200-151829000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:151828200-151829000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:151828200-151829800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:151828200-151830000	Weak transcription	HMEC	breast
26	chr1:151828200-151835400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:151828400-151829000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:151828400-151830000	Weak transcription	NHEK	skin
29	chr1:151828600-151829000	Enhancers	Ovary	ovary
30	chr1:151828600-151829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:151828600-151830800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links