Variant report

Variant	rs61328888
Chromosome Location	chr1:171630470-171630471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171614371..171616986-chr1:171628195..171631368,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10913680	1.00[EUR][1000 genomes]
rs12090298	1.00[EUR][1000 genomes]
rs55703533	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55835861	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58982503	1.00[EUR][1000 genomes]
rs59060176	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59256724	1.00[EUR][1000 genomes]
rs59351676	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60443600	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60495803	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60897561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61013259	1.00[EUR][1000 genomes]
rs61296253	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61359014	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703372	1.00[EUR][1000 genomes]
rs73041915	1.00[EUR][1000 genomes]
rs73041916	1.00[EUR][1000 genomes]
rs73041963	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041964	1.00[EUR][1000 genomes]
rs73044063	1.00[EUR][1000 genomes]
rs9970108	1.00[EUR][1000 genomes]
rs9970212	1.00[EUR][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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171624600-171635200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:171624800-171633200	Weak transcription	Psoas Muscle	Psoas
3	chr1:171625200-171633400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:171625400-171632600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:171625400-171632800	Weak transcription	Right Ventricle	heart
6	chr1:171626000-171631600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:171629400-171630800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:171629600-171630600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:171629800-171630800	Enhancers	HMEC	breast
10	chr1:171630200-171630800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:171630200-171631000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:171630400-171630800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:171630400-171630800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:171630400-171630800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:171630400-171631000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:171630400-171631000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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