Variant report

Variant	rs4624870
Chromosome Location	chr6:13070085-13070086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10807388	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12216401	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1579135	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1937771	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4132046	0.92[ASN][1000 genomes]
rs4292514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4357136	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4367379	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4432976	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4492189	0.94[ASN][1000 genomes]
rs4580867	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5002331	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6924689	0.94[ASN][1000 genomes]
rs7738606	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7748124	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9349456	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369759	0.92[ASN][1000 genomes]
rs9369760	0.90[ASN][1000 genomes]
rs9369768	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369779	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369815	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381636	0.94[ASN][1000 genomes]
rs9395335	0.94[ASN][1000 genomes]
rs9473285	0.81[ASN][1000 genomes]
rs9473437	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9473486	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13039400-13071600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:13054400-13071800	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:13054800-13074600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:13055200-13073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:13055200-13076400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:13059200-13077600	Weak transcription	Lung	lung
7	chr6:13066200-13071800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:13066800-13072200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:13067000-13073000	Enhancers	Brain Anterior Caudate	brain
10	chr6:13067400-13071600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:13067400-13075800	Weak transcription	Pancreas	Pancrea
12	chr6:13068000-13071000	Enhancers	Fetal Heart	heart
13	chr6:13069000-13070200	Weak transcription	Right Ventricle	heart
14	chr6:13069000-13071000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:13069200-13070400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:13069200-13071600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:13069200-13072400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:13069600-13070800	Enhancers	Left Ventricle	heart
19	chr6:13069600-13071000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:13069800-13071600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:13069800-13071600	Weak transcription	NHDF-Ad	bronchial
22	chr6:13069800-13082200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:13070000-13071600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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