Variant report

Variant	rs12141757
Chromosome Location	chr1:114633310-114633311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114621187..114625954-chr1:114630932..114635442,7	MCF-7	breast:
2	chr1:114631926..114634787-chr16:67192489..67195269,2	MCF-7	breast:
3	chr1:114622978..114624850-chr1:114631816..114634562,2	K562	blood:
4	chr1:114633144..114634920-chr1:114648218..114649973,2	MCF-7	breast:
5	chr1:114576305..114576992-chr1:114632415..114633398,6	MCF-7	breast:
6	chr1:114632835..114634373-chr1:114642093..114644648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135722	Chromatin interaction
ENSG00000102871	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12140761	0.89[AMR][1000 genomes]
rs17533023	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4839361	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537810	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74112919	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74112921	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750905	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114625400-114639600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:114625400-114639800	Weak transcription	Right Atrium	heart
4	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
5	chr1:114631000-114633400	Enhancers	HMEC	breast
6	chr1:114631200-114633400	Enhancers	NHEK	skin
7	chr1:114631400-114634000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:114631400-114638400	Enhancers	Fetal Lung	lung
9	chr1:114631400-114638800	Weak transcription	Fetal Brain Female	brain
10	chr1:114631800-114633400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:114631800-114636800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:114632000-114636600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
14	chr1:114632400-114635600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:114632400-114637000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:114632600-114636000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:114632600-114636000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:114632600-114636200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:114632800-114634000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:114632800-114634000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:114632800-114636000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:114632800-114636000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:114632800-114636600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:114633000-114634600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:114633000-114636600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:114633000-114637600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr1:114633000-114648000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:114633200-114633400	Enhancers	Fetal Muscle Leg	muscle
29	chr1:114633200-114634400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:114633200-114636200	Strong transcription	H9 Cell Line	embryonic stem cell

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