Variant report

Variant	rs73227906
Chromosome Location	chr12:122021154-122021155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr12:122020639-122021392	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:122019572-122021238	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr12:122020170-122021192	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:122020924-122021219	K562	blood:	n/a	n/a
5	CEBPB	chr12:122020959-122021244	IMR90	lung:	n/a	n/a
6	JUND	chr12:122020299-122021187	H1-hESC	embryonic stem cell:	n/a	chr12:122020698-122020709
7	CEBPB	chr12:122020616-122021280	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF7	chr12:122019836-122021304	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:122019556-122021300	H1-hESC	embryonic stem cell:	n/a	chr12:122019709-122019717
10	SP1	chr12:122020342-122021157	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:122020434-122021205	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:122017817-122021420	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:122015308-122021316	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:122020997-122021227	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr12:122020349-122021357	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr12:122019817-122021370	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr12:122020288-122021177	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr12:122020492-122021287	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr12:122020954-122021247	HepG2	liver:	n/a	n/a
20	MAX	chr12:122021049-122021337	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122014421..122021664-chr12:122061311..122067896,12	MCF-7	breast:
2	chr12:122016252..122018174-chr12:122019447..122021740,2	MCF-7	breast:
3	chr12:122019678..122022044-chr12:122055209..122057856,2	K562	blood:

No data

Variant related genes	Relation type
KDM2B	TF binding region
ENSG00000089094	Chromatin interaction
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28378998	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28397246	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435255	0.82[AMR][1000 genomes]
rs28508138	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28517331	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28546504	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73227912	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122014200-122021200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr12:122015600-122021800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:122017200-122021200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:122018600-122021400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:122019000-122021200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:122019400-122021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:122019800-122021200	Enhancers	Fetal Thymus	thymus
8	chr12:122019800-122021800	Enhancers	A549	lung
9	chr12:122019800-122023000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:122020000-122021200	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:122020000-122021200	Enhancers	Fetal Muscle Leg	muscle
12	chr12:122020000-122021400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:122020000-122022000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122020200-122021200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:122020200-122021200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:122020200-122021200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:122020200-122021200	Enhancers	Aorta	Aorta
18	chr12:122020200-122021200	Enhancers	Fetal Lung	lung
19	chr12:122020200-122021200	Enhancers	Osteobl	bone
20	chr12:122020200-122021800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:122020200-122022200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:122020200-122022200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:122020200-122022400	Enhancers	Fetal Heart	heart
24	chr12:122020200-122027800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:122020400-122021200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:122020400-122021200	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:122020400-122021200	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr12:122020400-122021200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr12:122020400-122021600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:122020600-122021200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr12:122020600-122021200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:122020600-122021200	Enhancers	Brain Anterior Caudate	brain
33	chr12:122020600-122021200	Active TSS	GM12878-XiMat	blood
34	chr12:122020600-122021200	Enhancers	NH-A	brain
35	chr12:122020600-122021400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:122020600-122021400	Enhancers	HUVEC	blood vessel
37	chr12:122020600-122022200	Enhancers	K562	blood
38	chr12:122020600-122027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:122020600-122028400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:122020600-122030200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:122020800-122021200	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:122020800-122021200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:122020800-122021400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr12:122020800-122021400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:122020800-122021400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:122020800-122021400	Enhancers	Brain Hippocampus Middle	brain
47	chr12:122020800-122021400	Enhancers	HepG2	liver
48	chr12:122020800-122022200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:122020800-122022600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr12:122020800-122022600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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