Variant report

Variant	rs12567152
Chromosome Location	chr1:171488518-171488519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171482500..171484395-chr1:171486369..171488857,2	K562	blood:
2	chr1:171486949..171489675-chr1:171555637..171558429,2	K562	blood:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10913119	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913197	1.00[YRI][hapmap]
rs10913285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913292	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12080096	1.00[YRI][hapmap]
rs12564279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2038041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2038043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2179882	1.00[YRI][hapmap]
rs2294291	1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3204333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57562814	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60014783	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6676140	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6681173	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6702038	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72717832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72717839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72717840	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72717853	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72717854	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7517178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522026	0.91[AMR][1000 genomes];0.82[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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171470600-171491600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:171475800-171524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:171476000-171498800	Weak transcription	Fetal Heart	heart
4	chr1:171476600-171489000	Weak transcription	Right Ventricle	heart
5	chr1:171478800-171497800	Weak transcription	Stomach Mucosa	stomach
6	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:171481200-171492800	Strong transcription	Primary B cells from cord blood	blood
8	chr1:171481200-171495600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:171481200-171518800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:171481200-171519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:171481200-171519600	Strong transcription	Dnd41	blood
12	chr1:171481200-171520000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:171481200-171522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:171481400-171489000	Strong transcription	HSMM	muscle
15	chr1:171481400-171519200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:171481400-171519800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:171481400-171520000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:171481400-171522800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:171481600-171494600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:171481600-171519200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:171481600-171520600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:171481800-171495000	Strong transcription	HUVEC	blood vessel
23	chr1:171481800-171520000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:171481800-171520600	Strong transcription	Placenta	Placenta
25	chr1:171482000-171495600	Strong transcription	HMEC	breast
26	chr1:171482000-171519800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:171482000-171520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:171482000-171520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:171482000-171520400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:171482000-171522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:171482000-171523000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:171482000-171524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:171482200-171488600	Strong transcription	Brain Anterior Caudate	brain
34	chr1:171482200-171489000	Strong transcription	K562	blood
35	chr1:171482200-171489200	Strong transcription	Fetal Lung	lung
36	chr1:171482200-171493400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:171482200-171494800	Strong transcription	Adipose Nuclei	Adipose
38	chr1:171482200-171495600	Strong transcription	Hela-S3	cervix
39	chr1:171482200-171496600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:171482200-171506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:171482200-171508200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:171482200-171512000	Strong transcription	Primary T cells from cord blood	blood
43	chr1:171482200-171518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:171482200-171519200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:171482200-171520000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:171482200-171520000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:171482200-171520400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:171482200-171520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:171482200-171520600	Strong transcription	Fetal Thymus	thymus
50	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood

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