Variant report

Variant	rs404447
Chromosome Location	chr12:120183607-120183608
allele	A/G
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	SETDB1	chr12:120182710-120183968	K562	blood:	n/a	n/a
2	KAP1	chr12:120182714-120183660	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120182637..120184318-chr12:120184686..120186339,2	K562	blood:

Variant related genes	Relation type
CIT	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10129003	0.81[ASN][1000 genomes]
rs1122119	0.83[ASN][1000 genomes]
rs1318272	0.81[ASN][1000 genomes]
rs175877	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs175879	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs202984	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202985	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs203326	0.81[ASN][1000 genomes]
rs203327	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs203328	0.92[ASN][1000 genomes]
rs2074052	0.84[ASN][1000 genomes]
rs2285595	0.86[ASN][1000 genomes]
rs278103	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs278108	0.82[EUR][1000 genomes]
rs278109	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278111	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs278115	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278117	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278128	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278129	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278130	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278131	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278132	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs278135	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs278137	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278139	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs278141	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278142	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2936830	0.86[ASN][1000 genomes]
rs2936831	0.86[ASN][1000 genomes]
rs2952403	0.82[ASN][1000 genomes]
rs2952444	0.81[ASN][1000 genomes]
rs2996027	0.86[ASN][1000 genomes]
rs2996028	0.86[ASN][1000 genomes]
rs2996030	0.86[ASN][1000 genomes]
rs3213625	0.86[ASN][1000 genomes]
rs3213626	0.86[ASN][1000 genomes]
rs3956827	0.81[ASN][1000 genomes]
rs402811	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766946	0.86[ASN][1000 genomes]
rs7131914	0.85[ASN][1000 genomes]
rs7299963	0.86[ASN][1000 genomes]
rs904654	0.81[ASN][1000 genomes]
rs904655	0.81[ASN][1000 genomes]

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
2	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
3	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:120151600-120196600	Weak transcription	Gastric	stomach
5	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
6	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:120154800-120186000	Weak transcription	NH-A	brain
8	chr12:120154800-120209600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:120156600-120221400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:120158000-120186200	Weak transcription	Brain Germinal Matrix	brain
11	chr12:120158000-120186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:120163600-120186400	Weak transcription	HUVEC	blood vessel
13	chr12:120172000-120189400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:120172200-120218600	Weak transcription	Fetal Kidney	kidney
15	chr12:120172400-120186200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:120172600-120189600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:120173000-120194400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:120173200-120186000	Weak transcription	Fetal Stomach	stomach
19	chr12:120173400-120185600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:120173400-120185800	Weak transcription	HMEC	breast
21	chr12:120173400-120186200	Weak transcription	Brain Angular Gyrus	brain
22	chr12:120173400-120188600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:120173600-120188800	Weak transcription	NHEK	skin
24	chr12:120177200-120184600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:120177600-120205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:120178200-120205200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:120178400-120202200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:120178600-120184800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:120179600-120184800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:120180000-120187800	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:120180600-120185000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:120180800-120184800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:120181000-120184800	Strong transcription	HSMM	muscle
34	chr12:120181400-120185000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:120181600-120184800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:120181800-120184400	ZNF genes & repeats	Fetal Lung	lung
37	chr12:120181800-120186000	Weak transcription	Osteobl	bone
38	chr12:120181800-120186800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:120182000-120184000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr12:120182000-120184400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
41	chr12:120182000-120184800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr12:120182000-120185000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr12:120182000-120185000	ZNF genes & repeats	Dnd41	blood
44	chr12:120182000-120189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:120182200-120187400	Weak transcription	Hela-S3	cervix
46	chr12:120182400-120183800	Weak transcription	Thymus	Thymus
47	chr12:120182400-120186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:120182600-120184200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
49	chr12:120182600-120184200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:120182600-120184200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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