Variant report

Variant	rs62438669
Chromosome Location	chr6:167048827-167048828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167044666..167049346-chr6:167050228..167055763,8	K562	blood:
2	chr6:167045626..167049988-chr6:167051387..167056754,6	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12174679	0.82[EUR][1000 genomes]
rs16899265	0.82[EUR][1000 genomes]
rs3829842	0.82[EUR][1000 genomes]
rs4145431	0.82[EUR][1000 genomes]
rs6941412	0.84[EUR][1000 genomes]
rs9348156	0.82[EUR][1000 genomes]
rs9356497	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9356506	0.84[AMR][1000 genomes]
rs9364861	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9364862	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9366037	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167042800-167049600	Weak transcription	Adipose Nuclei	Adipose
2	chr6:167042800-167050600	Weak transcription	Esophagus	oesophagus
3	chr6:167043400-167058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:167044600-167050000	Weak transcription	HUVEC	blood vessel
5	chr6:167045000-167050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:167045000-167061200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:167046200-167051600	Enhancers	Right Ventricle	heart
8	chr6:167046600-167054600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:167047600-167050400	Weak transcription	Gastric	stomach
10	chr6:167047600-167050400	Weak transcription	NHLF	lung
11	chr6:167047600-167061200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:167047800-167049600	Weak transcription	Psoas Muscle	Psoas
13	chr6:167047800-167050000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:167047800-167051200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:167047800-167051600	Enhancers	Left Ventricle	heart
16	chr6:167048000-167049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:167048000-167049800	Weak transcription	NHDF-Ad	bronchial
18	chr6:167048200-167049400	Weak transcription	Fetal Heart	heart
19	chr6:167048400-167049600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:167048400-167050000	Enhancers	Lung	lung
21	chr6:167048600-167049200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:167048600-167051400	Enhancers	Right Atrium	heart
23	chr6:167048600-167052200	Enhancers	Spleen	Spleen
24	chr6:167048800-167049200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:167048800-167054000	Weak transcription	H1 Cell Line	embryonic stem cell

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