Variant report

Variant	rs12167840
Chromosome Location	chr22:32889558-32889559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32883889..32885568-chr22:32888342..32890898,2	K562	blood:
2	chr22:32879087..32881593-chr22:32888783..32892054,3	K562	blood:
3	22:32889404-32895878..22:33262063-33266567	Hela-S3	cervix:
4	chr22:32879087..32881935-chr22:32888210..32890953,3	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1056484	0.80[JPT][hapmap]
rs12167896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130444	0.80[JPT][hapmap]
rs2097312	0.80[JPT][hapmap]
rs6518785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67999115	0.94[EUR][1000 genomes]
rs73170402	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs738980	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs8135209	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8142589	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9619267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621461	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12167840	HSCB	cis	parietal	SCAN
rs12167840	RHBDD3	cis	parietal	SCAN
rs12167840	FBXO7	cis	parietal	SCAN
rs12167840	RFPL3	cis	parietal	SCAN
rs12167840	FBXO7	cis	Esophagus Mucosa	GTEx
rs12167840	FBXO7	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32872000-32891000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32872200-32898200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32872200-32898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:32872200-32899600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:32873000-32889600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:32873000-32898000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:32874800-32896000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr22:32874800-32896400	Strong transcription	Dnd41	blood
9	chr22:32875200-32890400	Weak transcription	Aorta	Aorta
10	chr22:32876000-32896400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr22:32876600-32894800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr22:32877000-32896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:32877200-32898000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:32877800-32890000	Strong transcription	Primary T cells from cord blood	blood
15	chr22:32877800-32895400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr22:32878200-32896600	Strong transcription	Primary B cells from cord blood	blood
17	chr22:32878800-32892000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr22:32878800-32895200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:32878800-32895200	Strong transcription	Fetal Muscle Leg	muscle
20	chr22:32879200-32891200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:32879200-32895400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr22:32879200-32896200	Strong transcription	Left Ventricle	heart
23	chr22:32879400-32895200	Strong transcription	HepG2	liver
24	chr22:32879400-32896000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:32879400-32896200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr22:32879400-32896600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr22:32879600-32894800	Strong transcription	Fetal Thymus	thymus
28	chr22:32879600-32896000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:32879600-32896000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:32879600-32896600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:32879800-32895200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr22:32879800-32895600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr22:32879800-32896000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:32879800-32896400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr22:32879800-32896400	Strong transcription	GM12878-XiMat	blood
36	chr22:32879800-32896600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr22:32880000-32893800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr22:32880000-32894800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:32880000-32895000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:32880000-32895200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:32880000-32895400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:32880000-32895800	Strong transcription	Placenta	Placenta
43	chr22:32880000-32896000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:32880000-32896200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:32880000-32896200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:32880000-32896200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr22:32880000-32896400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr22:32880000-32896600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr22:32880200-32896400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr22:32880600-32895200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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