Variant report

Variant	rs55741463
Chromosome Location	chr12:122707708-122707709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:
2	chr12:122687145..122691347-chr12:122704062..122708275,6	MCF-7	breast:
3	chr12:122707574..122711015-chr12:122711233..122714440,3	K562	blood:
4	chr12:122705056..122708320-chr12:122708578..122712255,7	MCF-7	breast:
5	chr12:122689976..122691920-chr12:122706553..122708365,2	MCF-7	breast:
6	chr12:122706789..122708655-chr12:122709178..122711069,2	K562	blood:
7	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:
8	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139719	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10270	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10846470	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11060802	0.88[EUR][1000 genomes]
rs11061609	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424872	0.96[EUR][1000 genomes]
rs12578953	0.83[EUR][1000 genomes]
rs12580084	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12815512	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12828234	0.82[EUR][1000 genomes]
rs12833379	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2277332	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34325222	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3782154	0.83[EUR][1000 genomes]
rs4567503	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758650	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4758670	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4758671	0.83[EUR][1000 genomes]
rs59734396	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6488876	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298397	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7957569	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7962385	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7963144	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963565	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964911	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7965868	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7970027	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7972228	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs872451	0.94[EUR][1000 genomes]
rs879132	0.83[EUR][1000 genomes]
rs907482	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs907483	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9668064	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122689000-122709000	Weak transcription	Right Atrium	heart
2	chr12:122690600-122708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:122690800-122708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:122690800-122708800	Strong transcription	Fetal Brain Female	brain
5	chr12:122690800-122709400	Weak transcription	Stomach Mucosa	stomach
6	chr12:122691000-122707800	Strong transcription	Thymus	Thymus
7	chr12:122691000-122708200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:122691000-122708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:122691000-122708800	Strong transcription	A549	lung
10	chr12:122691200-122708000	Strong transcription	Brain Germinal Matrix	brain
11	chr12:122691200-122708000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr12:122691200-122708400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:122691200-122708600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:122691200-122708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:122691200-122709000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:122691200-122709200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:122691400-122707800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:122691400-122707800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:122691400-122708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:122691400-122708200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:122691400-122708400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:122691400-122708400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:122691400-122708800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:122691400-122709000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:122691400-122709000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:122691400-122709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:122691400-122709000	Strong transcription	Fetal Thymus	thymus
28	chr12:122691600-122707800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:122691600-122708000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:122691600-122708000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:122691600-122708400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:122691600-122708400	Strong transcription	Placenta	Placenta
33	chr12:122691600-122708400	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:122691600-122709000	Strong transcription	Brain Hippocampus Middle	brain
35	chr12:122691600-122709000	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:122691600-122709200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:122691800-122708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:122691800-122708400	Strong transcription	Liver	Liver
39	chr12:122691800-122708600	Strong transcription	Rectal Smooth Muscle	rectum
40	chr12:122691800-122709000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:122691800-122709000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:122692000-122708400	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:122692200-122708400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:122692200-122709200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:122692400-122709200	Strong transcription	Fetal Lung	lung
46	chr12:122692600-122709000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:122695200-122708200	Strong transcription	Lung	lung
48	chr12:122695400-122709000	Strong transcription	Primary T cells from cord blood	blood
49	chr12:122697000-122708400	Strong transcription	Ovary	ovary
50	chr12:122697200-122708400	Strong transcription	Fetal Stomach	stomach

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