Variant report

Variant	rs8000282
Chromosome Location	chr13:97869683-97869684
allele	C/T
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	CEBPB	chr13:97869435-97869713	IMR90	lung:	n/a	chr13:97869554-97869565
2	CEBPB	chr13:97869478-97869726	HepG2	liver:	n/a	chr13:97869554-97869565

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:97869671..97872410-chr13:97873607..97875923,2	K562	blood:
2	chr13:97869174..97871235-chr13:97877027..97879396,3	K562	blood:

Variant related genes	Relation type
MBNL2	TF binding region
ENSG00000139793	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10220223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17235551	0.92[CHB][hapmap]
rs3825522	0.92[CHB][hapmap]
rs5024203	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6491338	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6491339	0.92[CHB][hapmap]
rs6491341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7338056	0.85[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs7983632	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7991020	0.92[CHB][hapmap]
rs7997476	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9513219	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9513221	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9516861	0.99[ASN][1000 genomes]
rs9516864	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9516867	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9516870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9516871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9516873	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9584530	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8000282	RAP2A	cis	parietal	SCAN
rs8000282	TGDS	cis	parietal	SCAN
rs8000282	GPC5	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97864600-97872800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:97864600-97873800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:97864800-97874200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:97865200-97871000	Weak transcription	Brain Substantia Nigra	brain
5	chr13:97865200-97872200	Weak transcription	Stomach Mucosa	stomach
6	chr13:97865400-97872400	Weak transcription	Brain Anterior Caudate	brain
7	chr13:97865400-97872600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:97865600-97874200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:97867600-97871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:97867600-97871400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:97867600-97874200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr13:97867800-97870800	Weak transcription	HepG2	liver
13	chr13:97867800-97871200	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:97867800-97871400	Weak transcription	K562	blood
15	chr13:97867800-97874200	Weak transcription	Fetal Thymus	thymus
16	chr13:97868000-97873800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:97868200-97874000	Weak transcription	GM12878-XiMat	blood
18	chr13:97868200-97874200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr13:97868400-97873600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:97868400-97873800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr13:97868400-97873800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr13:97868400-97873800	Weak transcription	Dnd41	blood
23	chr13:97868600-97873800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:97868600-97874000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr13:97868600-97874000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr13:97868600-97874000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:97868800-97871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:97868800-97873800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr13:97868800-97874000	Weak transcription	Primary T cells from cord blood	blood
30	chr13:97868800-97874200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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