Variant report

Variant	rs12280032
Chromosome Location	chr11:9508154-9508155
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	chr11:9334375..9337218-chr11:9507648..9509638,2	K562	blood:

Variant related genes	Relation type
ENSG00000166471	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10082685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840246	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042365	0.84[EUR][1000 genomes]
rs11042367	0.84[EUR][1000 genomes]
rs11042379	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042401	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042402	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11600094	0.86[AMR][1000 genomes]
rs11600357	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11602025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11602056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11607631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274646	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12274655	0.86[AMR][1000 genomes]
rs12280301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280819	0.92[AMR][1000 genomes]
rs12284187	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12284407	0.86[AMR][1000 genomes]
rs12285570	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12292907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293634	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12293911	0.87[EUR][1000 genomes]
rs12419780	0.86[AMR][1000 genomes]
rs1546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910054	0.81[AMR][1000 genomes]
rs4910466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910469	0.96[EUR][1000 genomes]
rs4910471	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4910475	0.86[AMR][1000 genomes]
rs56116319	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56320702	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9988896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv7670	chr11:9500895-9514750	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3511643	chr11:9502176-9510124	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3511644	chr11:9502576-9510074	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3511645	chr11:9502576-9510074	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2486941	chr11:9502781-9509444	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3511642	chr11:9502810-9509629	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv19833	chr11:9503476-9508855	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12280032	ZNF143	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
4	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
11	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:9496200-9520000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:9496200-9522600	Weak transcription	Fetal Heart	heart
14	chr11:9496600-9516000	Weak transcription	Fetal Brain Male	brain
15	chr11:9496600-9517000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:9497400-9517400	Weak transcription	Small Intestine	intestine
18	chr11:9499200-9508200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:9499800-9508200	Strong transcription	Fetal Intestine Large	intestine
21	chr11:9500200-9510600	Weak transcription	HSMMtube	muscle
22	chr11:9500200-9516000	Weak transcription	Pancreas	Pancrea
23	chr11:9500400-9522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:9500600-9519800	Weak transcription	A549	lung
25	chr11:9501400-9512400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:9501400-9522600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:9501600-9509400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:9501600-9517400	Weak transcription	Esophagus	oesophagus
29	chr11:9501600-9519800	Weak transcription	Fetal Kidney	kidney
30	chr11:9501800-9509200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:9501800-9510400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:9501800-9510400	Weak transcription	NHEK	skin
33	chr11:9501800-9510600	Weak transcription	HUVEC	blood vessel
34	chr11:9501800-9510800	Weak transcription	HMEC	breast
35	chr11:9501800-9511600	Weak transcription	Ovary	ovary
36	chr11:9501800-9515800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:9501800-9516000	Weak transcription	Brain Angular Gyrus	brain
38	chr11:9501800-9516000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:9501800-9517200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:9501800-9517200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
42	chr11:9502000-9509400	Weak transcription	Fetal Brain Female	brain
43	chr11:9502000-9509400	Weak transcription	NHDF-Ad	bronchial
44	chr11:9502000-9510400	Weak transcription	Hela-S3	cervix
45	chr11:9502200-9516000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:9502800-9509200	Weak transcription	NHLF	lung
47	chr11:9502800-9517200	Weak transcription	Colonic Mucosa	Colon
48	chr11:9503000-9509200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:9503000-9510600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:9503000-9512200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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