Variant report

Variant	rs4619236
Chromosome Location	chr12:12434701-12434702
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12428303..12430629-chr12:12434266..12436457,2	MCF-7	breast:
2	chr12:12419688..12421380-chr12:12433411..12435070,2	MCF-7	breast:
3	chr12:12419888..12423743-chr12:12432104..12435678,3	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10431232	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431303	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10492120	1.00[JPT][hapmap]
rs10743981	0.94[EUR][1000 genomes]
rs1074992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1074993	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772542	1.00[JPT][hapmap]
rs10772544	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10845498	0.81[CHB][hapmap];0.88[EUR][1000 genomes]
rs10845504	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845505	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11054701	0.92[CEU][hapmap]
rs11054752	0.94[EUR][1000 genomes]
rs1468878	0.88[EUR][1000 genomes]
rs1548958	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16907786	0.92[CEU][hapmap]
rs16907810	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2160589	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2300231	0.92[CEU][hapmap]
rs2417090	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4265667	0.92[EUR][1000 genomes]
rs4494380	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4763789	0.92[EUR][1000 genomes]
rs61130413	0.85[EUR][1000 genomes]
rs7134001	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7136380	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295656	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7296283	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7310538	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311987	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313285	0.92[EUR][1000 genomes]
rs7968660	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12426600-12435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:12426600-12435400	Weak transcription	NHDF-Ad	bronchial
4	chr12:12432000-12435200	Weak transcription	NHLF	lung
5	chr12:12432400-12435600	Weak transcription	Osteobl	bone
6	chr12:12432600-12435400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:12433200-12436800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:12433800-12435000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:12433800-12436600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:12433800-12437600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:12433800-12437600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:12434000-12437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:12434200-12435000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:12434200-12436800	Weak transcription	Aorta	Aorta
15	chr12:12434400-12435200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:12434400-12435200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:12434400-12435400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:12434400-12435400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:12434400-12435400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:12434400-12436400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:12434400-12443000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:12434600-12435000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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