Variant report

Variant	rs4375908
Chromosome Location	chr2:54657904-54657905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10181826	0.81[EUR][1000 genomes]
rs10496030	0.81[EUR][1000 genomes]
rs12471250	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13393949	0.81[EUR][1000 genomes]
rs7560205	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7560669	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7574630	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4375908	SPTBN1	cis	brain	BrainEAC

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54654000-54663200	Enhancers	Fetal Muscle Leg	muscle
2	chr2:54654000-54664200	Enhancers	Adipose Nuclei	Adipose
3	chr2:54654200-54658200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:54654200-54660200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:54654400-54658400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:54654400-54660600	Enhancers	Fetal Brain Male	brain
7	chr2:54654600-54658400	Enhancers	Fetal Stomach	stomach
8	chr2:54654800-54660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:54655000-54658200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:54655200-54659000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:54655200-54659800	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:54655200-54660400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:54655400-54658400	Enhancers	Placenta	Placenta
14	chr2:54655400-54658400	Enhancers	HUVEC	blood vessel
15	chr2:54655400-54658600	Enhancers	Ovary	ovary
16	chr2:54656000-54660200	Enhancers	Fetal Heart	heart
17	chr2:54656200-54660200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:54656400-54658600	Enhancers	Spleen	Spleen
19	chr2:54656600-54660200	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:54656800-54658600	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:54656800-54658800	Enhancers	Left Ventricle	heart
22	chr2:54656800-54660000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:54656800-54660200	Enhancers	Right Atrium	heart
24	chr2:54656800-54663200	Enhancers	Fetal Lung	lung
25	chr2:54656800-54665200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:54657000-54658000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:54657000-54658000	Enhancers	Fetal Thymus	thymus
28	chr2:54657000-54658200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:54657000-54658400	Enhancers	Pancreas	Pancrea
30	chr2:54657000-54658600	Enhancers	Lung	lung
31	chr2:54657000-54658600	Enhancers	Right Ventricle	heart
32	chr2:54657000-54659200	Weak transcription	Fetal Kidney	kidney
33	chr2:54657200-54658000	Bivalent Enhancer	HepG2	liver
34	chr2:54657200-54658400	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:54657200-54659800	Enhancers	Brain Substantia Nigra	brain
36	chr2:54657200-54660200	Enhancers	Brain Anterior Caudate	brain
37	chr2:54657200-54660200	Enhancers	Psoas Muscle	Psoas
38	chr2:54657400-54658400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:54657400-54658800	Enhancers	Brain Hippocampus Middle	brain
40	chr2:54657400-54659000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:54657400-54660200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:54657600-54658200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:54657800-54658000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:54657800-54658200	Enhancers	Brain Angular Gyrus	brain
45	chr2:54657800-54658200	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:54657800-54660400	Weak transcription	HSMMtube	muscle

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