Variant report

Variant	rs209375
Chromosome Location	chr10:43095722-43095723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11239615	0.81[EUR][1000 genomes]
rs11499092	0.81[EUR][1000 genomes]
rs11499093	0.81[EUR][1000 genomes]
rs11499095	0.81[EUR][1000 genomes]
rs12259795	0.83[AFR][1000 genomes]
rs12264895	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17158044	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1831915	0.81[EUR][1000 genomes]
rs1855444	1.00[JPT][hapmap]
rs1855450	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1855460	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs1889310	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs209376	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs209377	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs209380	0.93[CEU][hapmap]
rs209381	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs209385	0.83[CEU][hapmap]
rs209386	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs209387	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs209388	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs209389	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs209390	0.94[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs209391	0.83[CEU][hapmap]
rs209392	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs210221	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs210222	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs210236	0.87[EUR][1000 genomes]
rs210240	0.83[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs210259	0.83[EUR][1000 genomes]
rs210260	0.88[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs210263	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs210267	0.85[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs210280	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs210281	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs210282	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs210285	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs210299	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs210300	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35605560	0.81[AFR][1000 genomes]
rs3740329	1.00[CEU][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs549167	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs55766110	0.83[AFR][1000 genomes]
rs574720	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs603671	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs630838	0.86[EUR][1000 genomes]
rs644175	0.82[EUR][1000 genomes]
rs6593349	0.81[EUR][1000 genomes]
rs68055	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs683538	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7072200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7073731	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7076849	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs7088389	0.86[EUR][1000 genomes]
rs7099013	0.86[EUR][1000 genomes]
rs7893674	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs7911186	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs7919712	0.88[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv975036	chr10:43090222-43132879	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs209375	ZNF33B	cis	Adipose Subcutaneous	GTEx
rs209375	ZNF33B	cis	Nerve Tibial	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43077800-43109600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:43085200-43096400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr10:43087000-43097000	Weak transcription	Fetal Stomach	stomach
4	chr10:43089600-43123600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:43089800-43098400	Weak transcription	Thymus	Thymus
6	chr10:43089800-43099800	Weak transcription	Brain Angular Gyrus	brain
7	chr10:43089800-43107600	Weak transcription	HepG2	liver
8	chr10:43089800-43126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:43089800-43133000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:43089800-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:43089800-43133000	Weak transcription	Right Ventricle	heart
12	chr10:43090000-43119200	Weak transcription	Brain Anterior Caudate	brain
13	chr10:43090000-43119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:43090200-43108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:43090400-43099200	Weak transcription	Placenta	Placenta
16	chr10:43090400-43107200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:43090400-43108000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:43090400-43118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:43090600-43104800	Weak transcription	Hela-S3	cervix
20	chr10:43090600-43107200	Weak transcription	K562	blood
21	chr10:43090800-43096200	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:43090800-43133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:43091000-43123800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:43091200-43096200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:43091200-43098800	Weak transcription	Brain Germinal Matrix	brain
26	chr10:43091200-43100200	Weak transcription	Fetal Brain Male	brain
27	chr10:43091200-43107800	Weak transcription	Fetal Thymus	thymus
28	chr10:43091200-43108800	Weak transcription	Adipose Nuclei	Adipose
29	chr10:43091200-43123600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr10:43091200-43126000	Weak transcription	Small Intestine	intestine
31	chr10:43091200-43132800	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:43091400-43095800	Weak transcription	Dnd41	blood
33	chr10:43091400-43096400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:43091400-43096600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr10:43091400-43098000	Weak transcription	Fetal Lung	lung
36	chr10:43091400-43098600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:43091400-43099200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:43091400-43099200	Weak transcription	Fetal Brain Female	brain
39	chr10:43091400-43101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:43091400-43101200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:43091400-43101400	Weak transcription	Ovary	ovary
42	chr10:43091400-43107600	Weak transcription	Psoas Muscle	Psoas
43	chr10:43091400-43108400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr10:43091400-43119600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:43091400-43132400	Weak transcription	HMEC	breast
46	chr10:43091400-43132800	Weak transcription	Colonic Mucosa	Colon
47	chr10:43091800-43107800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:43092400-43096600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr10:43093800-43095800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:43093800-43100200	Weak transcription	Rectal Mucosa Donor 31	rectum

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