Variant report

Variant	rs772471
Chromosome Location	chr12:56292705-56292706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56292644-56293107	PFSK-1	brain:	n/a	n/a
2	NR2F2	chr12:56292685-56293335	K562	blood:	n/a	n/a

Variant related genes	Relation type
GSTP1P1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55954216	0.80[AFR][1000 genomes]
rs7302270	0.85[AFR][1000 genomes]
rs772469	0.88[AFR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	esv3347258	chr12:56267734-56298106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56280000-56294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:56283000-56294800	Weak transcription	Thymus	Thymus
4	chr12:56284400-56292800	Weak transcription	Primary B cells from cord blood	blood
5	chr12:56284800-56294000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
7	chr12:56285600-56293000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:56285800-56292800	Weak transcription	HSMM	muscle
9	chr12:56287200-56294800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:56287400-56295000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:56289200-56292800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:56289200-56294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:56289400-56294200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:56290000-56295200	Weak transcription	GM12878-XiMat	blood
15	chr12:56290400-56292800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:56291000-56292800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:56291000-56292800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:56291000-56292800	Weak transcription	Fetal Brain Female	brain
19	chr12:56291000-56308400	Weak transcription	Right Atrium	heart
20	chr12:56291200-56292800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:56291200-56292800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:56291200-56292800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:56291200-56292800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:56291200-56293600	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:56291200-56294200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:56291200-56295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:56291400-56293000	Weak transcription	Placenta	Placenta
28	chr12:56291400-56294000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:56291400-56294000	Weak transcription	Liver	Liver
30	chr12:56291400-56294200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:56291400-56294200	Weak transcription	Lung	lung
32	chr12:56291400-56294800	Weak transcription	Hela-S3	cervix
33	chr12:56291400-56296800	Weak transcription	HUVEC	blood vessel
34	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:56291600-56294200	Weak transcription	Fetal Lung	lung
36	chr12:56291800-56293000	Weak transcription	HMEC	breast
37	chr12:56292000-56298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:56292200-56292800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:56292400-56294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:56292400-56294000	Weak transcription	Adipose Nuclei	Adipose
41	chr12:56292400-56294000	Weak transcription	Brain Germinal Matrix	brain
42	chr12:56292400-56294000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:56292400-56294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:56292400-56294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:56292600-56292800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:56292600-56293000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr12:56292600-56293000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:56292600-56293000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:56292600-56293000	Enhancers	Fetal Intestine Large	intestine
50	chr12:56292600-56293000	Enhancers	K562	blood

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