Variant report

Variant	rs62398393
Chromosome Location	chr6:37619830-37619831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:37619437-37620114	K562	blood:	n/a	chr6:37619652-37619662

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37483817..37486098-chr6:37619708..37622171,2	MCF-7	breast:
2	chr6:37601234..37603729-chr6:37618295..37621074,2	MCF-7	breast:
3	chr6:37618601..37620441-chr6:37621823..37624720,2	K562	blood:
4	chr6:37615983..37618953-chr6:37619587..37621551,3	K562	blood:
5	chr6:37619715..37621661-chr6:37639970..37641510,2	K562	blood:
6	chr6:37618357..37620078-chr6:37641465..37644399,2	K562	blood:
7	chr6:37617185..37618953-chr6:37619629..37621239,2	K562	blood:
8	chr6:37618578..37621552-chr6:37642899..37645409,2	K562	blood:
9	chr6:37614974..37617013-chr6:37618850..37621278,2	MCF-7	breast:

No data

Variant related genes	Relation type
MDGA1	TF binding region
ENSG00000112139	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs62398385	1.00[ASN][1000 genomes]
rs62398392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739832	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804832	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804833	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804857	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804858	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr6:37599200-37621800	Weak transcription	NHLF	lung
2	chr6:37614200-37621800	Weak transcription	Aorta	Aorta
3	chr6:37617000-37620200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:37617200-37621600	Weak transcription	Esophagus	oesophagus
5	chr6:37617200-37622400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:37618000-37621800	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:37618200-37621800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:37618200-37631600	Weak transcription	Gastric	stomach
9	chr6:37618400-37622000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:37618800-37621800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:37618800-37622000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:37618800-37622000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:37619000-37620400	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:37619200-37620000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:37619200-37620200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:37619600-37620000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:37619600-37620000	ZNF genes & repeats	Ovary	ovary
18	chr6:37619600-37620200	Enhancers	Left Ventricle	heart
19	chr6:37619600-37620200	Enhancers	Right Atrium	heart
20	chr6:37619600-37620600	Enhancers	Brain Anterior Caudate	brain
21	chr6:37619600-37621400	Enhancers	Brain Substantia Nigra	brain
22	chr6:37619800-37621200	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:37619800-37621400	Enhancers	Brain Inferior Temporal Lobe	brain

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