Variant report

Variant	rs3930023
Chromosome Location	chr12:47658718-47658719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47658454..47661363-chr12:47661524..47663276,2	K562	blood:
2	chr12:47658054..47659765-chr12:47663574..47665703,2	MCF-7	breast:
3	chr12:47657801..47659832-chr12:47672778..47674429,2	K562	blood:
4	chr12:47655434..47662792-chr12:47663087..47666435,9	K562	blood:
5	chr12:47614083..47616989-chr12:47658260..47660029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257925	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11183821	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214712	0.84[AFR][1000 genomes]
rs214713	0.84[AFR][1000 genomes]
rs214714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs214716	0.82[AFR][1000 genomes]
rs214717	0.82[AFR][1000 genomes]
rs214718	0.82[AFR][1000 genomes]
rs214719	0.82[AFR][1000 genomes]
rs214722	0.82[AFR][1000 genomes]
rs214723	0.82[AFR][1000 genomes]
rs214724	0.82[AFR][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription 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	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47644000-47660600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47646200-47661000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:47649800-47660600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:47650600-47660600	Weak transcription	NHEK	skin
5	chr12:47654000-47662400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:47654200-47658800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:47654200-47660800	Weak transcription	A549	lung
8	chr12:47654200-47662600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:47654400-47662600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:47656400-47661000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:47657200-47666200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:47658200-47659400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:47658200-47659400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:47658200-47659600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:47658200-47659800	Enhancers	K562	blood
16	chr12:47658400-47658800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:47658400-47659200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:47658600-47659200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:47658600-47659200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:47658600-47659200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:47658600-47659200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:47658600-47659200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:47658600-47659400	Enhancers	Primary T cells fromperipheralblood	blood

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