Variant report

Variant	rs9332488
Chromosome Location	chr1:169553806-169553807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169453485..169455825-chr1:169552064..169553822,2	K562	blood:
2	chr1:169553531..169554398-chr1:169563651..169564307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213062	Chromatin interaction
ENSG00000117479	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10489184	0.96[AFR][1000 genomes]
rs1557573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862404	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2157583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3917832	1.00[EUR][1000 genomes]
rs3917835	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3917844	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3917855	1.00[EUR][1000 genomes]
rs57207056	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57637273	1.00[AMR][1000 genomes]
rs58131257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60345655	1.00[EUR][1000 genomes]
rs60781559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60864119	1.00[EUR][1000 genomes]
rs724510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73035543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73035547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73035573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73037438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73037444	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9287094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332479	1.00[EUR][1000 genomes]
rs9332480	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332482	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332485	1.00[EUR][1000 genomes]
rs9332486	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332489	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332491	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332492	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332493	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332494	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332496	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332499	1.00[EUR][1000 genomes]
rs9332501	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332506	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332508	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332530	1.00[EUR][1000 genomes]
rs9332532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332569	0.85[AMR][1000 genomes];1.00[EUR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv548187	chr1:169530837-169559035	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169542200-169554800	Weak transcription	Placenta	Placenta
2	chr1:169543800-169554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:169552200-169554000	Flanking Active TSS	HepG2	liver
4	chr1:169552800-169554000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:169553600-169554000	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr1:169553600-169554000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr1:169553600-169554400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:169553600-169554400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:169553600-169554400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:169553600-169554400	Enhancers	NHEK	skin
11	chr1:169553800-169554000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:169553800-169554000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:169553800-169554200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:169553800-169554200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:169553800-169554400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:169553800-169554400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:169553800-169554400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:169553800-169554400	Enhancers	Primary T cells from cord blood	blood
19	chr1:169553800-169554400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:169553800-169554400	Enhancers	HMEC	breast
21	chr1:169553800-169554800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:169553800-169555200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:169553800-169555400	Active TSS	Primary T cells fromperipheralblood	blood
24	chr1:169553800-169555800	Active TSS	Liver	Liver

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