Variant report

Variant	rs12566159
Chromosome Location	chr1:67613730-67613731
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	chr1:67511473..67513782-chr1:67612631..67614927,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12069782	0.94[ASN][1000 genomes]
rs12090164	0.94[ASN][1000 genomes]
rs12095536	0.94[ASN][1000 genomes]
rs12561798	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12562213	1.00[AFR][1000 genomes]
rs12563505	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12564219	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568393	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17129680	0.84[EUR][1000 genomes]
rs28464018	1.00[AFR][1000 genomes]
rs34017352	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762318	0.94[ASN][1000 genomes]
rs61780311	1.00[AFR][1000 genomes]
rs6693659	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870950	chr1:67575549-67627260	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67607800-67614000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:67608200-67614200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:67608400-67614600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:67609000-67614800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:67609200-67614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:67609400-67614400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:67609400-67614400	Weak transcription	K562	blood
8	chr1:67609600-67614000	Weak transcription	Stomach Mucosa	stomach
9	chr1:67609600-67614400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:67609600-67614400	Weak transcription	Fetal Thymus	thymus
11	chr1:67609600-67614800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:67610000-67614600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:67610000-67614600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:67610400-67614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:67610600-67614400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:67610800-67614400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:67612200-67614400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:67612200-67614400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:67612400-67614400	Weak transcription	Primary T cells from cord blood	blood
20	chr1:67612400-67614400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:67612600-67614400	Weak transcription	GM12878-XiMat	blood
22	chr1:67612800-67614400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:67612800-67614400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:67612800-67614400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:67612800-67614400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:67612800-67614400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:67613000-67614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:67613000-67614400	Weak transcription	HMEC	breast
29	chr1:67613000-67614400	Weak transcription	NHEK	skin

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