Variant report

Variant	rs7134759
Chromosome Location	chr12:76098121-76098122
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76097180..76098838-chr12:76099370..76102152,2	MCF-7	breast:
2	chr12:76094900..76097140-chr12:76097176..76099734,2	K562	blood:
3	chr12:76092093..76110851-chr12:76415034..76433496,122	MCF-7	breast:
4	chr12:76028709..76030372-chr12:76096874..76098526,2	MCF-7	breast:
5	chr12:76015734..76021626-chr12:76097256..76101818,9	MCF-7	breast:
6	chr12:76096760..76101934-chr12:76112737..76117926,8	MCF-7	breast:
7	chr12:76097832..76100387-chr8:102502894..102505190,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254024	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000257453	Chromatin interaction

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

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

rs_ID	r²[population]
rs17115491	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17222631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17222750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17821458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17821592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57403522	1.00[EUR][1000 genomes]
rs7310873	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7486504	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7961044	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][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	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76076200-76098400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:76079400-76099800	Weak transcription	Right Atrium	heart
3	chr12:76084600-76099600	Weak transcription	Pancreas	Pancrea
4	chr12:76086800-76099400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:76088600-76098600	Weak transcription	NHDF-Ad	bronchial
6	chr12:76088800-76100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:76089000-76100600	Weak transcription	HMEC	breast
8	chr12:76089200-76098600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:76089600-76099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:76089600-76100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:76089600-76100400	Weak transcription	NHEK	skin
12	chr12:76094200-76098600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:76094200-76098600	Weak transcription	NHLF	lung
14	chr12:76094200-76098800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:76094200-76098800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:76094200-76099400	Weak transcription	HSMMtube	muscle
17	chr12:76094200-76100200	Weak transcription	Psoas Muscle	Psoas
18	chr12:76095400-76100000	Weak transcription	Adipose Nuclei	Adipose
19	chr12:76096000-76100600	Weak transcription	Left Ventricle	heart
20	chr12:76096200-76098200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:76097000-76099600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:76097000-76101000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:76097200-76098800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:76097200-76100400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:76097400-76099800	Weak transcription	Dnd41	blood
26	chr12:76097600-76099600	Enhancers	HUVEC	blood vessel
27	chr12:76097800-76098200	Enhancers	Brain Hippocampus Middle	brain
28	chr12:76097800-76098800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:76097800-76098800	Enhancers	HepG2	liver
30	chr12:76097800-76099000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:76097800-76099000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:76097800-76101000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:76098000-76098400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:76098000-76098400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:76098000-76098400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:76098000-76099000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:76098000-76100000	Enhancers	K562	blood
38	chr12:76098000-76100400	Enhancers	Fetal Heart	heart
39	chr12:76098000-76100800	Enhancers	Fetal Kidney	kidney

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