Variant report

Variant	rs11158820
Chromosome Location	chr14:70347348-70347349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1275844	0.81[ASW][hapmap]
rs1275849	0.81[ASW][hapmap]
rs2332175	0.81[ASW][hapmap];1.00[LWK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs3742908	1.00[JPT][hapmap]
rs56307916	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722815	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Digit length ratio	23263445	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11158820	FUT8	cis	parietal	SCAN
rs11158820	SMOC1	cis	multi-tissue	Pritchard

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70345600-70347400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr14:70345600-70347600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:70345800-70347400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:70345800-70347400	Active TSS	Brain Anterior Caudate	brain
5	chr14:70345800-70347400	Active TSS	Brain Substantia Nigra	brain
6	chr14:70345800-70347600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:70345800-70347600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:70345800-70347600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:70345800-70348000	Active TSS	Psoas Muscle	Psoas
10	chr14:70345800-70348800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:70345800-70349400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:70346000-70347600	Active TSS	Liver	Liver
13	chr14:70346000-70347600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr14:70346000-70347800	Active TSS	Hela-S3	cervix
15	chr14:70346000-70348400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:70346000-70349600	Active TSS	Fetal Brain Female	brain
17	chr14:70346200-70347400	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr14:70346200-70347600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr14:70346200-70347800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
20	chr14:70346200-70347800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr14:70346200-70347800	Bivalent/Poised TSS	A549	lung
22	chr14:70346400-70347400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
23	chr14:70346400-70347400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
24	chr14:70346400-70347800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:70346400-70347800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:70346400-70347800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr14:70346600-70347800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:70346600-70348000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:70346800-70347400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:70346800-70347400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:70346800-70347800	Active TSS	Brain Hippocampus Middle	brain
32	chr14:70346800-70347800	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr14:70346800-70348200	Enhancers	Fetal Brain Male	brain
34	chr14:70346800-70349000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:70347000-70347400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr14:70347000-70347400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:70347000-70347400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:70347000-70347400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:70347000-70347400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr14:70347000-70347400	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr14:70347000-70347600	Bivalent/Poised TSS	Osteobl	bone
42	chr14:70347000-70348000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:70347000-70348200	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr14:70347000-70348400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:70347200-70347400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr14:70347200-70347400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr14:70347200-70347400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
48	chr14:70347200-70347400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr14:70347200-70347400	Bivalent Enhancer	Fetal Stomach	stomach
50	chr14:70347200-70347400	Flanking Bivalent TSS/Enh	HepG2	liver

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