Variant report

Variant	rs12695694
Chromosome Location	chr3:139000458-139000459
allele	C/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	YY1	chr3:139000389-139000655	K562	blood:	n/a	chr3:139000485-139000494
2	POLR2A	chr3:139000423-139000813	Gliobla	brain:	n/a	n/a
3	CTCF	chr3:139000380-139000530	AG09319	gingival:	n/a	n/a
4	POLR2A	chr3:139000289-139001101	ProgFib	skin:	n/a	n/a
5	CTCF	chr3:139000450-139000511	Fibrobl	skin:	n/a	n/a
6	TAF7	chr3:139000384-139000525	K562	blood:	n/a	n/a
7	POLR2A	chr3:139000267-139001008	U87	brain:	n/a	n/a
8	POLR2A	chr3:139000303-139001053	K562	blood:	n/a	n/a
9	GATA3	chr3:138999826-139000501	SK-N-SH	brain:	n/a	n/a
10	TBP	chr3:139000251-139000572	K562	blood:	n/a	n/a
11	HEY1	chr3:139000333-139000936	K562	blood:	n/a	n/a
12	POLR2A	chr3:139000373-139000763	K562	blood:	n/a	n/a
13	POLR2A	chr3:139000267-139000920	U87	brain:	n/a	n/a
14	GTF2B	chr3:139000284-139000577	K562	blood:	n/a	n/a
15	POLR2A	chr3:139000348-139000875	K562	blood:	n/a	n/a
16	YY1	chr3:139000407-139000649	SK-N-SH_RA	brain:	n/a	chr3:139000485-139000494
17	TAF7	chr3:139000345-139000748	K562	blood:	n/a	n/a
18	POLR2A	chr3:139000375-139000771	K562	blood:	n/a	n/a
19	GATA3	chr3:138999833-139000581	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr3:139000331-139000932	U87	brain:	n/a	n/a
21	HEY1	chr3:139000394-139000707	K562	blood:	n/a	n/a

Variant related genes	Relation type
MRPS22	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10212419	0.82[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6802174	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9853827	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9866054	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138999000-139006800	Weak transcription	Pancreas	Pancrea
2	chr3:138999200-139001800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:138999400-139000800	Weak transcription	K562	blood
4	chr3:138999400-139001000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:138999600-139000600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:138999600-139000600	Enhancers	HSMM	muscle
7	chr3:138999800-139000600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:138999800-139000800	Enhancers	NHLF	lung
9	chr3:138999800-139001000	Enhancers	Osteobl	bone
10	chr3:138999800-139001200	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr3:139000000-139001200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr3:139000000-139001600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:139000000-139001800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:139000200-139000600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr3:139000200-139000600	Active TSS	Brain Substantia Nigra	brain
16	chr3:139000200-139000600	Active TSS	NHDF-Ad	bronchial
17	chr3:139000200-139000800	Flanking Active TSS	HSMMtube	muscle
18	chr3:139000200-139001000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr3:139000200-139001000	Active TSS	Brain Angular Gyrus	brain
20	chr3:139000400-139000600	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr3:139000400-139000800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:139000400-139000800	Enhancers	Brain Germinal Matrix	brain
23	chr3:139000400-139000800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr3:139000400-139001000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr3:139000400-139001200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:139000400-139001200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:139000400-139001400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr3:139000400-139001400	Enhancers	Skeletal Muscle Female	skeletal muscle

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