Variant report

Variant	rs11172212
Chromosome Location	chr12:57827348-57827349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
2	chr12:57825005..57827571-chr12:57912550..57914471,2	K562	blood:
3	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:

Variant related genes	Relation type
ENSG00000208028	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000175197	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11172184	0.81[EUR][1000 genomes]
rs11172197	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12427027	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34453452	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34537746	0.81[EUR][1000 genomes]
rs35058761	0.83[EUR][1000 genomes]
rs6581140	0.83[EUR][1000 genomes]
rs67161907	0.82[AMR][1000 genomes];0.87[EUR][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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57825000-57828600	Weak transcription	Gastric	stomach
2	chr12:57825200-57828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57825200-57828600	Weak transcription	Pancreas	Pancrea
4	chr12:57825400-57828000	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:57825400-57828200	Weak transcription	Placenta	Placenta
6	chr12:57825400-57828400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:57825400-57828400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:57825400-57828400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:57825400-57828400	Weak transcription	Fetal Stomach	stomach
10	chr12:57825400-57828600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:57825400-57828800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:57825400-57828800	Weak transcription	Fetal Thymus	thymus
13	chr12:57825400-57829000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:57825600-57828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:57825600-57828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:57825600-57828200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:57825600-57828600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:57825600-57848600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:57825800-57827800	Weak transcription	HepG2	liver
20	chr12:57825800-57828000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:57825800-57828000	Weak transcription	A549	lung
22	chr12:57825800-57828400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:57825800-57828400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:57825800-57828600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:57825800-57828800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:57825800-57828800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:57826000-57828000	Weak transcription	Fetal Intestine Large	intestine
28	chr12:57826000-57828400	Weak transcription	K562	blood
29	chr12:57826200-57828800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:57826400-57827400	Enhancers	Liver	Liver
31	chr12:57826400-57828000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:57826400-57829200	Weak transcription	Dnd41	blood

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