Variant report

Variant	rs12003101
Chromosome Location	chr9:86517540-86517541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10868069	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10868072	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs11140298	0.88[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12001293	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs12001505	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12001918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12003500	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12552069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17064724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs17086750	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs2184086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34690696	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35784768	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4480186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs55654273	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55872219	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56055736	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57267691	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57531526	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57957686	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58248061	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58474042	0.93[EUR][1000 genomes]
rs60277614	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61490202	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62561948	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7021609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap]
rs7027121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap]
rs7038235	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7040843	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7041687	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7042053	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7045525	0.94[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7046229	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7047702	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7048626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73463313	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73463327	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73463379	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73463395	0.93[EUR][1000 genomes]
rs73469343	0.91[EUR][1000 genomes]
rs7849708	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7850288	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7850404	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7850640	0.92[EUR][1000 genomes]
rs7853625	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs7854432	0.92[EUR][1000 genomes]
rs7856614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7857619	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7859830	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7859928	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7864058	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7867221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7874481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs970846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv438108	chr9:86488586-86542206	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv2753071	chr9:86500946-86517546	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv972407	chr9:86501897-86517820	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1794308	chr9:86514455-86517543	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv1804558	chr9:86514455-86517543	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	nsv442559	chr9:86514455-86517543	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12003101	C4orf31	trans	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86460600-86518200	Weak transcription	Thymus	Thymus
2	chr9:86461600-86535400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:86461600-86535400	Weak transcription	Ovary	ovary
4	chr9:86462200-86535200	Weak transcription	Fetal Brain Female	brain
5	chr9:86462600-86535200	Weak transcription	Brain Anterior Caudate	brain
6	chr9:86462800-86518000	Weak transcription	Fetal Intestine Large	intestine
7	chr9:86462800-86518000	Weak transcription	Fetal Stomach	stomach
8	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:86482000-86518000	Weak transcription	Left Ventricle	heart
10	chr9:86491000-86535200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:86491200-86535200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:86491400-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:86491800-86518200	Weak transcription	Primary B cells from cord blood	blood
14	chr9:86495000-86518000	Weak transcription	Primary T cells from cord blood	blood
15	chr9:86496000-86535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:86496400-86533000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:86499400-86518200	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:86499400-86535000	Weak transcription	Fetal Kidney	kidney
19	chr9:86499800-86523200	Weak transcription	Fetal Thymus	thymus
20	chr9:86500000-86534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:86500200-86521200	Weak transcription	Adipose Nuclei	Adipose
22	chr9:86500200-86521200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:86500200-86535200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:86500200-86535200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:86500200-86535600	Weak transcription	Lung	lung
26	chr9:86501200-86521600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:86502000-86532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:86502600-86535000	Weak transcription	Fetal Lung	lung
29	chr9:86503000-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:86506400-86534800	Weak transcription	Pancreas	Pancrea
31	chr9:86508200-86518400	Weak transcription	Aorta	Aorta
32	chr9:86508200-86535600	Weak transcription	Esophagus	oesophagus
33	chr9:86508400-86520200	Weak transcription	Liver	Liver
34	chr9:86509000-86521200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr9:86512400-86535400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:86512600-86518000	Weak transcription	Spleen	Spleen
37	chr9:86512600-86535400	Weak transcription	Placenta	Placenta
38	chr9:86513200-86534800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:86513800-86518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:86513800-86519000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr9:86516200-86521400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:86516200-86535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:86516400-86517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:86517000-86519800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr9:86517400-86535200	Weak transcription	Primary B cells from peripheral blood	blood

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