Variant report

Variant	rs7750120
Chromosome Location	chr6:13072633-13072634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11961962	0.94[EUR][1000 genomes]
rs13190774	0.93[EUR][1000 genomes]
rs13192747	0.94[EUR][1000 genomes]
rs13193716	0.94[EUR][1000 genomes]
rs13200673	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13204304	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13205551	0.92[EUR][1000 genomes]
rs13205960	0.92[EUR][1000 genomes]
rs13209107	0.94[EUR][1000 genomes]
rs13215349	0.88[EUR][1000 genomes]
rs13218974	0.85[EUR][1000 genomes]
rs13219842	0.92[EUR][1000 genomes]
rs34054185	0.94[EUR][1000 genomes]
rs34267578	0.88[EUR][1000 genomes]
rs34381599	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34952336	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35229766	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35273948	0.94[EUR][1000 genomes]
rs35305875	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35776201	0.88[EUR][1000 genomes]
rs36119782	0.96[EUR][1000 genomes]
rs4132044	0.85[EUR][1000 genomes]
rs4361612	0.89[EUR][1000 genomes]
rs4373361	0.91[EUR][1000 genomes]
rs4379290	0.94[EUR][1000 genomes]
rs4580848	0.86[EUR][1000 genomes]
rs4615376	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711908	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711909	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711910	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4715064	0.87[EUR][1000 genomes]
rs4715072	0.94[EUR][1000 genomes]
rs4715082	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6458616	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932757	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7738252	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7743585	0.91[EUR][1000 genomes]
rs7750023	0.91[EUR][1000 genomes]
rs7750099	0.91[EUR][1000 genomes]
rs7756776	0.91[EUR][1000 genomes]
rs7762827	0.96[EUR][1000 genomes]
rs7775103	0.91[EUR][1000 genomes]
rs9296592	0.96[EUR][1000 genomes]
rs9463377	0.89[EUR][1000 genomes]
rs9463408	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9463423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9473285	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9473354	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9473370	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9473427	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9473436	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13054800-13074600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:13055200-13073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:13055200-13076400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:13059200-13077600	Weak transcription	Lung	lung
5	chr6:13067000-13073000	Enhancers	Brain Anterior Caudate	brain
6	chr6:13067400-13075800	Weak transcription	Pancreas	Pancrea
7	chr6:13069800-13082200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:13070400-13077800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:13070800-13075400	Weak transcription	Left Ventricle	heart
10	chr6:13070800-13075600	Weak transcription	Right Ventricle	heart
11	chr6:13071400-13073400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:13071600-13073200	Enhancers	Brain Angular Gyrus	brain
13	chr6:13071600-13073400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:13071600-13073400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:13071800-13073400	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:13071800-13073400	Enhancers	Brain Substantia Nigra	brain
17	chr6:13071800-13073400	Enhancers	Fetal Lung	lung
18	chr6:13071800-13074000	Enhancers	Brain Hippocampus Middle	brain
19	chr6:13072000-13073000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:13072000-13073000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:13072000-13073200	Weak transcription	Small Intestine	intestine
22	chr6:13072000-13073400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr6:13072200-13073200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:13072200-13073200	Enhancers	Fetal Heart	heart
25	chr6:13072200-13074600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:13072400-13074000	Enhancers	Aorta	Aorta
27	chr6:13072400-13074600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:13072600-13082200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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