Variant report

Variant	rs7655181
Chromosome Location	chr4:54976454-54976455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54962971..54965791-chr4:54975162..54976964,2	K562	blood:

Variant related genes	Relation type
ENSG00000180613	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10011984	0.80[AMR][1000 genomes]
rs10030288	0.80[AMR][1000 genomes]
rs10030381	0.80[AMR][1000 genomes]
rs10033457	0.80[AMR][1000 genomes]
rs1132998	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1158401	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1158402	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12504400	0.80[AMR][1000 genomes]
rs1834432	0.80[AMR][1000 genomes]
rs2278141	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2278142	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3194383	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4099487	0.80[AMR][1000 genomes]
rs4293842	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4498189	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4565140	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6554150	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6554152	0.80[AMR][1000 genomes]
rs7654979	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv594202	chr4:54943432-55011123	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv594203	chr4:54960005-55030375	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54974200-54976600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr4:54975000-54976600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr4:54975200-54976600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:54975200-54976600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:54975200-54976600	Flanking Active TSS	Liver	Liver
6	chr4:54975600-54976600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:54975600-54976600	Bivalent Enhancer	Fetal Lung	lung
8	chr4:54975600-54976600	Enhancers	Lung	lung
9	chr4:54975800-54976600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr4:54975800-54976600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:54976000-54976600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr4:54976000-54976600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:54976000-54976600	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr4:54976200-54976600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
15	chr4:54976200-54976600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:54976200-54976600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr4:54976200-54976600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr4:54976200-54976800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr4:54976200-54977000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:54976400-54976600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:54976400-54976600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
22	chr4:54976400-54976600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr4:54976400-54976600	Enhancers	Brain Germinal Matrix	brain
24	chr4:54976400-54977200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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