Variant report

Variant	rs7294812
Chromosome Location	chr12:119458167-119458168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119449958..119452455-chr12:119456708..119459020,2	K562	blood:
2	chr12:119457435..119458229-chr12:119552906..119553464,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10775014	0.89[ASN][1000 genomes]
rs10851060	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10851061	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10851062	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11069220	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11069223	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11069224	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11069225	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11069226	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11069233	0.89[ASN][1000 genomes]
rs12099608	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1405047	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1525945	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1525947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1525948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1525957	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1917879	0.81[ASN][1000 genomes]
rs1976923	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2177838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393466	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4357755	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4523746	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4526826	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767756	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4767757	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4767758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767759	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767760	0.89[ASN][1000 genomes]
rs6490220	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6490221	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6490227	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490228	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490229	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66694569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133570	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137807	0.89[ASN][1000 genomes]
rs7298175	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7298478	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306122	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306928	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308063	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312999	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7313274	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962190	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869716	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940913	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940914	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940915	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[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	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119451000-119460000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119454800-119458600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:119455000-119459000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:119455000-119459000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:119455600-119459000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:119455800-119459000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:119456000-119458400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:119456000-119458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:119456400-119458600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:119456600-119459200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:119456800-119458400	Enhancers	Brain Germinal Matrix	brain
12	chr12:119456800-119458600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:119457400-119458400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:119457600-119458800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:119457800-119459000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:119458000-119458200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr12:119458000-119458200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:119458000-119458400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr12:119458000-119458800	Enhancers	Fetal Brain Female	brain

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