Variant report

Variant	rs12293175
Chromosome Location	chr11:32607026-32607027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:32604280-32607288	Hela-S3	cervix:	n/a	n/a
2	TBL1XR1	chr11:32606478-32607100	K562	blood:	n/a	n/a
3	MXI1	chr11:32604788-32607255	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:32604698-32607117	K562	blood:	n/a	n/a
5	POLR2A	chr11:32604834-32607199	GM12891	blood:	n/a	n/a
6	NRF1	chr11:32606897-32607225	GM12878	blood:	n/a	n/a
7	MXI1	chr11:32604758-32607458	SK-N-SH	brain:	n/a	n/a
8	ELK1	chr11:32606814-32607142	K562	blood:	n/a	n/a
9	POLR2A	chr11:32604799-32607191	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:32606184-32607283	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:32604960-32607236	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:32606481-32607097	SK-N-MC	brain:	n/a	n/a
13	ZNF384	chr11:32606017-32607065	K562	blood:	n/a	n/a
14	POLR2A	chr11:32604952-32607189	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:32604879-32607040	GM12878	blood:	n/a	n/a
16	MYC	chr11:32606843-32607043	MCF10A-Er-Src	breast:	n/a	n/a
17	SREBP1	chr11:32604745-32607542	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32605232..32608580-chr11:32610157..32613118,3	MCF-7	breast:
2	chr11:32605665..32608550-chr11:32673934..32676744,2	K562	blood:
3	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
4	chr11:32407819..32409991-chr11:32606455..32608332,2	MCF-7	breast:
5	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:
6	chr11:32605376..32607127-chr11:32609129..32611535,2	MCF-7	breast:
7	chr11:32395890..32398375-chr11:32606788..32608603,2	K562	blood:

No data

Variant related genes	Relation type
EIF3M	TF binding region
ENSG00000149100	Chromatin interaction
ENSG00000183242	Chromatin interaction
ENSG00000184937	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10835898	1.00[AMR][1000 genomes]
rs11031825	1.00[AMR][1000 genomes]
rs11031887	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11031923	1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11031946	0.84[AFR][1000 genomes]
rs11031948	0.84[AFR][1000 genomes]
rs11031982	1.00[YRI][hapmap]
rs12270264	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270653	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271181	0.84[AFR][1000 genomes]
rs12271387	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12275668	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12276553	1.00[YRI][hapmap]
rs12276711	1.00[YRI][hapmap]
rs12280927	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12281351	1.00[YRI][hapmap]
rs12283935	0.84[AFR][1000 genomes]
rs12285254	1.00[YRI][hapmap]
rs12286034	0.84[AFR][1000 genomes]
rs12286067	0.84[AFR][1000 genomes]
rs12286919	1.00[YRI][hapmap]
rs12287194	1.00[YRI][hapmap]
rs12287273	1.00[AMR][1000 genomes]
rs12287838	0.84[AFR][1000 genomes]
rs12288162	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288783	1.00[AMR][1000 genomes]
rs12289390	0.84[AFR][1000 genomes]
rs12291088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292455	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292567	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12293280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294446	1.00[AMR][1000 genomes]
rs12294449	1.00[AMR][1000 genomes]
rs13377413	0.84[AFR][1000 genomes]
rs41490947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936995	1.00[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12293175	PRRG4	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32604800-32607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:32604800-32607200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:32604800-32607200	Active TSS	Fetal Muscle Leg	muscle
4	chr11:32604800-32607200	Active TSS	Thymus	Thymus
5	chr11:32604800-32607400	Active TSS	NHLF	lung
6	chr11:32604800-32607600	Active TSS	Right Ventricle	heart
7	chr11:32605000-32607200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:32605000-32607200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:32605200-32607200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:32605200-32607600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:32605200-32608000	Active TSS	GM12878-XiMat	blood
12	chr11:32605800-32607200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:32606000-32607200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:32606000-32607400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:32606000-32607600	Weak transcription	Spleen	Spleen
16	chr11:32606200-32607200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:32606200-32607200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:32606200-32607200	Flanking Active TSS	Liver	Liver
19	chr11:32606200-32607200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr11:32606200-32607400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:32606200-32607600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr11:32606200-32607600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:32606400-32607200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr11:32606400-32607200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr11:32606400-32607200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr11:32606400-32607200	Flanking Active TSS	Fetal Heart	heart
27	chr11:32606400-32607200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr11:32606400-32607200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:32606400-32607200	Flanking Active TSS	Hela-S3	cervix
30	chr11:32606400-32607200	Flanking Active TSS	HUVEC	blood vessel
31	chr11:32606400-32607200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:32606400-32607200	Flanking Active TSS	Osteobl	bone
33	chr11:32606400-32607400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr11:32606400-32607600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr11:32606400-32609000	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr11:32606600-32607200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:32606600-32607200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:32606600-32607200	Enhancers	Primary B cells from peripheral blood	blood
39	chr11:32606600-32607200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:32606600-32607200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr11:32606600-32607200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:32606600-32607200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:32606600-32607400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:32606600-32607400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:32606600-32607400	Flanking Active TSS	NHEK	skin
46	chr11:32606600-32607600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:32606600-32607600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:32606800-32607200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr11:32606800-32607200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:32606800-32607200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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