Variant report

Variant	rs11003678
Chromosome Location	chr10:51835875-51835876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11003482	0.81[EUR][1000 genomes]
rs11003584	0.84[EUR][1000 genomes]
rs11003664	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11596069	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12357551	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12357945	0.83[EUR][1000 genomes]
rs2009532	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2338051	0.81[EUR][1000 genomes]
rs4042941	0.81[EUR][1000 genomes]
rs45510292	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4935069	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4935415	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56090579	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56364145	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60533166	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7474549	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7897841	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv518071	chr10:51595893-52157935	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv3521278	chr10:51635096-52001994	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3521279	chr10:51635096-52001994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11003678	FAM21A	cis	Skin Sun Exposed Lower leg	GTEx
rs11003678	FAM21A	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51828000-51837200	Weak transcription	Spleen	Spleen
2	chr10:51828200-51837400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:51828400-51836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:51828400-51837200	Weak transcription	Lung	lung
5	chr10:51828400-51837200	Weak transcription	HSMMtube	muscle
6	chr10:51828400-51837400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:51828400-51837600	Weak transcription	Brain Substantia Nigra	brain
8	chr10:51828400-51837800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:51828400-51853800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:51828600-51836800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:51828600-51837200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:51828600-51837400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:51828600-51837400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:51828600-51837400	Weak transcription	Placenta	Placenta
15	chr10:51828600-51837600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:51828600-51837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:51828600-51837600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr10:51828600-51837600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr10:51828600-51837600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr10:51828600-51837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:51828600-51837600	Weak transcription	Fetal Thymus	thymus
22	chr10:51828600-51837600	Weak transcription	Thymus	Thymus
23	chr10:51828600-51837800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:51828600-51837800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:51828600-51838000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:51828600-51838000	Weak transcription	Fetal Stomach	stomach
27	chr10:51828600-51891800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr10:51828600-51893400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:51828800-51837400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:51828800-51837400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:51828800-51837600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:51828800-51837600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:51828800-51837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:51828800-51838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:51828800-51858000	Weak transcription	Adipose Nuclei	Adipose
36	chr10:51828800-51889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:51829000-51837600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr10:51829000-51838000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr10:51829000-51838000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:51829200-51837600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr10:51829200-51837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:51829400-51837800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr10:51829800-51837800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr10:51830000-51841200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr10:51830000-51844200	Weak transcription	NHDF-Ad	bronchial
46	chr10:51830200-51838000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:51833000-51837400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr10:51833000-51845400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr10:51835000-51836200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr10:51835200-51836200	Strong transcription	Fetal Intestine Small	intestine

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