Variant report

Variant	rs62398392
Chromosome Location	chr6:37617588-37617589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:37617520-37618319	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37617185..37618953-chr6:37619629..37621239,2	K562	blood:

Variant related genes	Relation type
MDGA1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62398385	1.00[ASN][1000 genomes]
rs62398393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924003	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739832	0.86[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:4 , 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
4	esv10458	chr6:37616371-37618598	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37599200-37621800	Weak transcription	NHLF	lung
2	chr6:37612600-37619800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:37614200-37621800	Weak transcription	Aorta	Aorta
4	chr6:37616000-37618000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr6:37616000-37618200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:37616000-37618400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:37616200-37618200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:37616200-37618200	Enhancers	Pancreas	Pancrea
9	chr6:37616400-37618000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr6:37616400-37618200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:37616400-37618200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:37616800-37617600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
13	chr6:37616800-37619600	Weak transcription	Brain Substantia Nigra	brain
14	chr6:37617000-37617800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:37617000-37617800	Weak transcription	Liver	Liver
16	chr6:37617000-37617800	Enhancers	Gastric	stomach
17	chr6:37617000-37618000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:37617000-37618400	Bivalent Enhancer	Fetal Brain Male	brain
19	chr6:37617000-37620200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:37617200-37617600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr6:37617200-37617600	Bivalent Enhancer	Fetal Brain Female	brain
22	chr6:37617200-37617800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr6:37617200-37619600	Weak transcription	Brain Anterior Caudate	brain
24	chr6:37617200-37619600	Weak transcription	Ovary	ovary
25	chr6:37617200-37619600	Weak transcription	Right Atrium	heart
26	chr6:37617200-37621600	Weak transcription	Esophagus	oesophagus
27	chr6:37617200-37622400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:37617400-37617600	Bivalent Enhancer	Primary T cells from cord blood	blood
29	chr6:37617400-37617800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr6:37617400-37617800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr6:37617400-37617800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:37617400-37617800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:37617400-37617800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr6:37617400-37618800	Bivalent Enhancer	Fetal Heart	heart

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