Variant report

Variant	rs17377108
Chromosome Location	chr8:124197303-124197304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:124197109-124197617	K562	blood:	n/a	n/a
2	TCF7L2	chr8:124197252-124197525	MCF-7	breast:	n/a	n/a
3	BHLHE40	chr8:124197199-124197455	K562	blood:	n/a	n/a
4	MAX	chr8:124197056-124197376	K562	blood:	n/a	n/a
5	MAX	chr8:124197068-124197769	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:124196309-124197941	K562	blood:	n/a	n/a
7	ZNF217	chr8:124197154-124197623	MCF-7	breast:	n/a	n/a
8	MAZ	chr8:124197131-124197772	K562	blood:	n/a	n/a
9	GATA3	chr8:124196897-124197611	MCF-7	breast:	n/a	n/a
10	MAX	chr8:124197254-124197364	Hela-S3	cervix:	n/a	n/a
11	MYC	chr8:124197243-124197527	MCF10A-Er-Src	breast:	n/a	n/a
12	HA-E2F1	chr8:124197115-124197646	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124194480..124197339-chr8:124228010..124229599,2	MCF-7	breast:
2	chr8:124193902..124196809-chr8:124197225..124200638,5	K562	blood:
3	chr8:124092154..124093656-chr8:124196525..124198676,2	K562	blood:
4	chr8:124193902..124195805-chr8:124197225..124199510,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000253258	TF binding region
ENSG00000221461	TF binding region
ENSG00000266324	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000147689	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1619905	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1670175	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1670180	0.88[CEU][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1713740	1.00[ASW][hapmap];0.88[CEU][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1713742	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs1713743	0.85[AMR][1000 genomes]
rs1713744	0.88[CEU][hapmap];0.85[AMR][1000 genomes]
rs35611014	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816374	0.85[AMR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124194600-124197600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:124194800-124197400	Active TSS	Esophagus	oesophagus
4	chr8:124195000-124201800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:124196200-124198000	Flanking Active TSS	HMEC	breast
6	chr8:124196200-124198800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:124196200-124199600	Transcr. at gene 5' and 3'	K562	blood
8	chr8:124196400-124198000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:124196400-124198000	Transcr. at gene 5' and 3'	NHEK	skin
10	chr8:124196400-124199600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:124196600-124197400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:124196800-124197600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:124196800-124199600	Transcr. at gene 5' and 3'	Hela-S3	cervix
14	chr8:124197000-124201000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:124197200-124198600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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