Variant report

Variant	rs2074187
Chromosome Location	chr17:45930359-45930360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45929492-45930416	H1-neurons	neurons:	n/a	n/a
2	RFX5	chr17:45930327-45930476	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:45929125-45930569	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45928961..45933138-chr17:45960892..45963467,3	K562	blood:
2	chr17:45921031..45932631-chr17:45970978..45975136,16	K562	blood:
3	chr17:45928850..45930934-chr17:46029439..46031345,2	K562	blood:
4	chr17:45930221..45932836-chr17:45934311..45936272,2	MCF-7	breast:
5	chr17:45927380..45931249-chr17:45931939..45938449,12	K562	blood:
6	chr17:45925951..45927687-chr17:45928711..45930678,2	K562	blood:
7	chr17:45927036..45931880-chr17:45931939..45936922,11	K562	blood:
8	chr17:45928921..45932195-chr17:46017729..46021262,3	MCF-7	breast:
9	chr17:45907387..45909991-chr17:45928355..45930503,2	MCF-7	breast:
10	chr17:45929322..45931264-chr17:45947202..45949879,3	K562	blood:
11	chr17:45923146..45930414-chr17:45970842..45976007,11	MCF-7	breast:
12	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:

No data

No data

No data

Variant related genes	Relation type
SP6	TF binding region
ENSG00000141294	Chromatin interaction
ENSG00000266821	Chromatin interaction
ENSG00000108439	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000234494	Chromatin interaction
ENSG00000159111	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12452366	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2001381	0.81[CHB][hapmap]
rs2074191	0.94[JPT][hapmap]
rs35598018	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4362431	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6503871	0.94[JPT][hapmap]
rs7220419	0.94[JPT][hapmap]
rs8064241	0.90[CHB][hapmap]
rs878171	0.82[TSI][hapmap]
rs9904820	0.95[CHB][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.81[ASN][1000 genomes]
rs9910474	0.82[ASN][1000 genomes]
rs9912331	0.82[ASN][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45928400-45931400	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr17:45928400-45931400	Enhancers	Lung	lung
3	chr17:45929200-45930400	Flanking Active TSS	K562	blood
4	chr17:45929600-45931200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:45929800-45930400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:45929800-45930400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:45929800-45940000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:45930000-45931000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:45930000-45931000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr17:45930200-45930600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
11	chr17:45930200-45930800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr17:45930200-45930800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr17:45930200-45930800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:45930200-45931000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr17:45930200-45931200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr17:45930200-45931200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr17:45930200-45933000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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