Variant report

Variant	rs784388
Chromosome Location	chr1:211582147-211582148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211431599..211434301-chr1:211581665..211583556,2	MCF-7	breast:
2	chr1:211581760..211583766-chr1:211585922..211587874,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10732682	0.96[EUR][1000 genomes]
rs10746434	0.86[EUR][1000 genomes]
rs10779554	0.96[EUR][1000 genomes]
rs1084977	0.82[AMR][1000 genomes]
rs1084982	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1084983	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1084986	0.92[EUR][1000 genomes]
rs10863886	0.96[EUR][1000 genomes]
rs10863887	0.96[EUR][1000 genomes]
rs11804635	0.88[EUR][1000 genomes]
rs1533219	0.92[EUR][1000 genomes]
rs1533220	0.96[EUR][1000 genomes]
rs1663521	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1707247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1707252	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1707266	0.96[EUR][1000 genomes]
rs1707267	0.96[EUR][1000 genomes]
rs1877476	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1983259	0.96[EUR][1000 genomes]
rs1983260	0.89[EUR][1000 genomes]
rs2358215	0.92[EUR][1000 genomes]
rs2588658	0.88[EUR][1000 genomes]
rs2995846	0.96[EUR][1000 genomes]
rs3123302	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3125840	0.88[EUR][1000 genomes]
rs3855878	0.96[EUR][1000 genomes]
rs4281373	0.83[EUR][1000 genomes]
rs4347268	0.96[EUR][1000 genomes]
rs4370817	0.96[EUR][1000 genomes]
rs4556425	0.96[EUR][1000 genomes]
rs4951517	0.96[EUR][1000 genomes]
rs4951735	0.96[EUR][1000 genomes]
rs4951737	0.96[EUR][1000 genomes]
rs4951738	0.92[EUR][1000 genomes]
rs4951739	0.96[EUR][1000 genomes]
rs4951740	0.92[EUR][1000 genomes]
rs6540675	0.96[EUR][1000 genomes]
rs6540676	0.96[EUR][1000 genomes]
rs6540678	0.96[EUR][1000 genomes]
rs6657779	0.89[EUR][1000 genomes]
rs6663627	0.96[EUR][1000 genomes]
rs6671526	0.96[EUR][1000 genomes]
rs6672233	0.96[EUR][1000 genomes]
rs6688682	0.96[EUR][1000 genomes]
rs6692815	0.96[EUR][1000 genomes]
rs73072839	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7517135	0.96[EUR][1000 genomes]
rs7527620	0.96[EUR][1000 genomes]
rs784366	0.89[EUR][1000 genomes]
rs784367	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs784368	0.92[EUR][1000 genomes]
rs784370	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784371	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs784373	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs784374	1.00[EUR][1000 genomes]
rs784375	1.00[EUR][1000 genomes]
rs784378	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784380	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784381	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784387	0.96[EUR][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:19 , 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	chr1:211580400-211582400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:211580400-211589600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:211580800-211583200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr1:211581200-211584000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr1:211581400-211608200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:211581600-211582400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr1:211581600-211583000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr1:211581800-211589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:211581800-211589600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:211581800-211589600	Weak transcription	Gastric	stomach
17	chr1:211581800-211590600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:211582000-211582400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:211582000-211586800	Weak transcription	Fetal Kidney	kidney

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