Variant report

Variant	rs8012411
Chromosome Location	chr14:31756741-31756742
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	chr14:31750344..31752843-chr14:31756445..31759313,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10149460	0.80[AMR][1000 genomes]
rs10467704	0.80[AMR][1000 genomes]
rs12100784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12100791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12589391	0.80[AMR][1000 genomes]
rs28758850	0.80[AMR][1000 genomes]
rs55719863	0.91[AMR][1000 genomes]
rs56881376	1.00[ASN][1000 genomes]
rs61107917	0.80[AMR][1000 genomes]
rs61408696	0.80[AMR][1000 genomes]
rs61416910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741258	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7142843	0.80[AMR][1000 genomes]
rs7158422	0.80[AMR][1000 genomes]
rs74043907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74043915	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74043923	0.80[AMR][1000 genomes]
rs74043937	0.80[AMR][1000 genomes]
rs74043941	0.80[AMR][1000 genomes]
rs8003524	0.80[AMR][1000 genomes]
rs8003996	0.80[AMR][1000 genomes]
rs8007156	0.90[AMR][1000 genomes]
rs8014570	0.80[AMR][1000 genomes]
rs8017643	1.00[ASN][1000 genomes]
rs8020685	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31753200-31760400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:31753200-31762400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:31753200-31764200	Weak transcription	NHLF	lung
5	chr14:31753200-31766400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31753200-31768000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:31753200-31769400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:31753200-31776600	Weak transcription	Aorta	Aorta
9	chr14:31753400-31762000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:31753400-31762200	Weak transcription	Fetal Lung	lung
11	chr14:31753400-31767800	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:31753400-31769400	Weak transcription	Brain Anterior Caudate	brain
13	chr14:31753400-31769400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:31753400-31774000	Weak transcription	NHDF-Ad	bronchial
15	chr14:31753600-31759800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:31753600-31760000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:31753600-31762200	Weak transcription	Osteobl	bone
18	chr14:31753600-31764000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:31753600-31772600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:31753800-31761400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:31754000-31759600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:31754200-31761600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:31754400-31762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:31755200-31769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:31755400-31757000	Enhancers	HepG2	liver
26	chr14:31756000-31757200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr14:31756000-31757200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:31756200-31757200	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr14:31756200-31767800	Weak transcription	Left Ventricle	heart
30	chr14:31756200-31769800	Weak transcription	Liver	Liver
31	chr14:31756400-31760400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:31756400-31769600	Weak transcription	Lung	lung
33	chr14:31756600-31769200	Weak transcription	Spleen	Spleen

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