Variant report

Variant	rs724264
Chromosome Location	chr14:78321810-78321811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78317373..78319812-chr14:78319839..78322835,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1010073	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150472	0.80[EUR][1000 genomes]
rs17106507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106513	1.00[ASW][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17752308	0.89[AMR][1000 genomes]
rs17752428	0.89[AMR][1000 genomes]
rs17752707	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs17752869	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17752882	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17752974	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753231	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753249	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825422	0.89[AMR][1000 genomes]
rs17825834	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17825983	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826206	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287651	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2364	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783959	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783967	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522354	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45610535	0.89[AMR][1000 genomes]
rs73313116	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs724264	ADCK1	cis	multi-tissue	Pritchard
rs724264	ADCK1	cis	Whole Blood	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
2	chr14:78297600-78324000	Weak transcription	Ovary	ovary
3	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
4	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:78301400-78325200	Weak transcription	Gastric	stomach
9	chr14:78301400-78325400	Weak transcription	Lung	lung
10	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
12	chr14:78302200-78331000	Weak transcription	Liver	Liver
13	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
17	chr14:78306600-78330400	Weak transcription	Dnd41	blood
18	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:78311600-78325000	Weak transcription	Primary T cells from cord blood	blood
22	chr14:78313400-78326000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:78315800-78326400	Weak transcription	Fetal Heart	heart
25	chr14:78318200-78326000	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:78320000-78325200	Weak transcription	Fetal Intestine Small	intestine
27	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:78321200-78322000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:78321200-78322000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr14:78321400-78342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:78321600-78322200	Enhancers	K562	blood
32	chr14:78321600-78325600	Weak transcription	Adipose Nuclei	Adipose
33	chr14:78321800-78335400	Weak transcription	Psoas Muscle	Psoas
34	chr14:78321800-78348400	Weak transcription	Placenta	Placenta

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