Variant report

Variant	rs3122929
Chromosome Location	chr12:57509102-57509103
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	chr12:57504163..57506506-chr12:57508252..57511748,4	K562	blood:
2	chr12:57508450..57511232-chr12:57511653..57513684,3	K562	blood:

Variant related genes	Relation type
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12368672	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs167769	0.94[EUR][1000 genomes]
rs3001425	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3001426	0.82[ASN][1000 genomes]
rs3001427	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324011	0.90[EUR][1000 genomes]
rs73120411	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57505800-57521800	Weak transcription	Spleen	Spleen
2	chr12:57506200-57512600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:57506200-57520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:57506200-57520400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:57506400-57512600	Weak transcription	Right Atrium	heart
6	chr12:57506600-57520400	Weak transcription	Stomach Mucosa	stomach
7	chr12:57506600-57520600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:57506600-57520600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:57506800-57509800	Weak transcription	Primary T cells from cord blood	blood
10	chr12:57506800-57510200	Weak transcription	K562	blood
11	chr12:57506800-57512000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:57506800-57512200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:57506800-57512200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:57506800-57512200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:57506800-57512200	Weak transcription	Osteobl	bone
16	chr12:57506800-57512600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:57506800-57518200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:57506800-57519200	Weak transcription	Liver	Liver
19	chr12:57507000-57511800	Weak transcription	HMEC	breast
20	chr12:57507000-57511800	Weak transcription	NHEK	skin
21	chr12:57507000-57512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:57507000-57512000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:57507000-57512200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:57507000-57512200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:57507000-57512200	Weak transcription	NHDF-Ad	bronchial
26	chr12:57507000-57512400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:57507000-57512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:57507000-57512400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:57507000-57512400	Weak transcription	Adipose Nuclei	Adipose
30	chr12:57507000-57512400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:57507000-57512400	Weak transcription	Esophagus	oesophagus
32	chr12:57507000-57512400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:57507000-57512400	Weak transcription	GM12878-XiMat	blood
34	chr12:57507000-57512400	Weak transcription	NHLF	lung
35	chr12:57507200-57511800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:57507200-57512200	Weak transcription	Hela-S3	cervix
37	chr12:57507200-57512600	Weak transcription	A549	lung

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