Variant report

Variant	rs1108723
Chromosome Location	chr14:78331228-78331229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78330457..78332124-chr14:78332590..78335145,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10132717	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10147848	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11847125	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12433254	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12433276	0.84[CEU][hapmap]
rs12435231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2052443	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28498552	0.80[EUR][1000 genomes]
rs60752295	0.92[EUR][1000 genomes]
rs7146747	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs741572	0.81[CEU][hapmap]
rs8009834	0.81[CEU][hapmap];0.88[GIH][hapmap]
rs8017520	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs8022154	0.81[CEU][hapmap];0.88[GIH][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1108723	RPL21P10	cis	Muscle Skeletal	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
2	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
3	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
7	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:78321400-78342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:78321800-78335400	Weak transcription	Psoas Muscle	Psoas
13	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
14	chr14:78322000-78342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:78322000-78342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:78322800-78331600	Enhancers	K562	blood
18	chr14:78323400-78339600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:78323600-78331600	Weak transcription	Primary B cells from cord blood	blood
20	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:78324400-78339800	Weak transcription	Ovary	ovary
23	chr14:78325000-78332400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:78325000-78345000	Weak transcription	Brain Angular Gyrus	brain
25	chr14:78326400-78339800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:78326400-78342000	Weak transcription	Adipose Nuclei	Adipose
27	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
28	chr14:78327000-78338000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:78327000-78339400	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:78327000-78342000	Weak transcription	Lung	lung
31	chr14:78327200-78348600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:78327400-78331800	Weak transcription	Fetal Stomach	stomach
33	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
34	chr14:78328000-78331800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:78328000-78338200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:78329000-78345000	Weak transcription	Brain Substantia Nigra	brain
38	chr14:78329000-78345800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:78329000-78347600	Weak transcription	Brain Anterior Caudate	brain
40	chr14:78329000-78348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:78329200-78345400	Weak transcription	Right Ventricle	heart
42	chr14:78329400-78336400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:78329400-78345200	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:78330200-78332200	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr14:78330400-78334400	Strong transcription	Primary T cells from cord blood	blood
46	chr14:78330800-78331600	Strong transcription	Spleen	Spleen
47	chr14:78330800-78334200	Weak transcription	Dnd41	blood
48	chr14:78331000-78333200	Weak transcription	Gastric	stomach

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