Variant report

Variant	rs12409703
Chromosome Location	chr1:168332189-168332190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168311642..168312682-chr1:168331951..168332907,6	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489210	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10800356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918873	0.92[ASN][1000 genomes]
rs12034832	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12123087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128782	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12136596	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12137679	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12403490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566982	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1569467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16860447	0.89[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1977060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268556	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2268557	0.89[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2268559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2900726	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656583	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6427127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670176	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697421	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7532903	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7555108	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs760685	0.88[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.96[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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv872527	chr1:168327555-168375973	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 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	chr1:168329200-168332200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:168329400-168333200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:168329400-168333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:168329400-168333800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:168329400-168334600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:168329600-168333600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:168329600-168334000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:168330200-168333600	Weak transcription	HepG2	liver
9	chr1:168330800-168333000	Weak transcription	Right Atrium	heart
10	chr1:168331200-168333000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:168331200-168341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:168331600-168333000	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:168331600-168333000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:168331800-168332400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:168331800-168332400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:168331800-168332400	Enhancers	Fetal Thymus	thymus
17	chr1:168331800-168333000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:168331800-168333200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:168332000-168332400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:168332000-168332600	Enhancers	Fetal Heart	heart
21	chr1:168332000-168333000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:168332000-168333200	Enhancers	K562	blood

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