Variant report

Variant	rs12665558
Chromosome Location	chr6:37586337-37586338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37583937..37586472-chr6:37588985..37590758,2	K562	blood:
2	chr6:37583299..37586472-chr6:37588985..37593847,4	K562	blood:
3	chr6:37568344..37572932-chr6:37584973..37589083,4	K562	blood:
4	chr6:37576514..37579539-chr6:37585884..37588412,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12663898	0.89[ASN][1000 genomes]
rs12665609	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13191142	0.82[ASN][1000 genomes]
rs13199706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13216911	0.89[ASN][1000 genomes]
rs13217481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13217642	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17742617	0.86[ASN][1000 genomes]
rs1883898	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34207353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34278717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34952823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35238957	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66497557	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67395334	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71569386	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71569387	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72846588	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs804821	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs804822	0.87[ASN][1000 genomes]
rs810855	0.86[ASN][1000 genomes]
rs9349049	0.89[ASN][1000 genomes]
rs9366939	0.86[ASN][1000 genomes]
rs9366940	0.86[ASN][1000 genomes]
rs9366942	0.89[ASN][1000 genomes]
rs9369012	0.86[ASN][1000 genomes]
rs9369013	0.86[ASN][1000 genomes]
rs9369014	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380693	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380694	0.89[ASN][1000 genomes]
rs9394443	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9394444	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9470648	0.83[ASN][1000 genomes]
rs9637970	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv602955	chr6:37581200-37599962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 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	chr6:37583200-37587200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:37583600-37587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:37583800-37586600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:37584400-37590600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:37584800-37586600	Weak transcription	NH-A	brain
6	chr6:37585800-37586600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:37585800-37588000	Enhancers	Brain Germinal Matrix	brain
8	chr6:37586000-37586600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr6:37586000-37586600	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:37586000-37586600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:37586000-37586800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:37586000-37587400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr6:37586000-37587800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:37586000-37588800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr6:37586000-37588800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:37586200-37586400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:37586200-37586400	Bivalent Enhancer	Placenta	Placenta
18	chr6:37586200-37586400	Enhancers	Spleen	Spleen
19	chr6:37586200-37586800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:37586200-37587400	Enhancers	Fetal Brain Male	brain
21	chr6:37586200-37587600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:37586200-37587800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:37586200-37589200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:37586200-37592400	Weak transcription	Right Atrium	heart

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