Variant report

Variant	rs784389
Chromosome Location	chr1:211583379-211583380
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211431599..211434301-chr1:211581665..211583556,2	MCF-7	breast:
2	chr1:211581760..211583766-chr1:211585922..211587874,2	MCF-7	breast:
3	chr1:211582791..211587024-chr1:211588072..211591351,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction
ENSG00000236809	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10449313	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1055565	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1084981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863888	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10863895	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12116749	0.88[EUR][1000 genomes]
rs1533217	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1663522	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777827	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2063569	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798559	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2920908	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2920911	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3002258	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3738199	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951520	0.81[EUR][1000 genomes]
rs4951523	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4951741	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951742	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6667740	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6696938	0.80[EUR][1000 genomes]
rs6703361	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7520989	0.83[EUR][1000 genomes]
rs7538692	0.81[EUR][1000 genomes]
rs7550702	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs784369	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs784379	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs784382	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784385	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211585800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211573800-211589600	Weak transcription	Ovary	ovary
4	chr1:211574000-211585000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:211574000-211589600	Weak transcription	Liver	Liver
6	chr1:211575400-211588800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:211580400-211589600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:211581200-211584000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr1:211581400-211608200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:211581800-211589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:211581800-211589600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:211581800-211589600	Weak transcription	Gastric	stomach
13	chr1:211581800-211590600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:211582000-211586800	Weak transcription	Fetal Kidney	kidney

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