Variant report

Variant	rs61056357
Chromosome Location	chr1:224294921-224294922
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224293087..224298288-chr1:224299905..224302120,6	K562	blood:
2	chr1:224293723..224297684-chr1:224300401..224303649,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10158843	1.00[EUR][1000 genomes]
rs10753448	0.80[AFR][1000 genomes]
rs12025911	1.00[EUR][1000 genomes]
rs12027762	1.00[EUR][1000 genomes]
rs12040996	1.00[EUR][1000 genomes]
rs12047952	1.00[EUR][1000 genomes]
rs12239235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239466	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375296	1.00[EUR][1000 genomes]
rs1401319	1.00[EUR][1000 genomes]
rs1586888	0.80[AFR][1000 genomes]
rs1602706	0.80[AFR][1000 genomes]
rs16842291	1.00[EUR][1000 genomes]
rs16842341	1.00[EUR][1000 genomes]
rs16846190	1.00[EUR][1000 genomes]
rs16846212	1.00[EUR][1000 genomes]
rs16846293	1.00[EUR][1000 genomes]
rs16846494	1.00[EUR][1000 genomes]
rs1890119	1.00[EUR][1000 genomes]
rs2035897	0.80[AFR][1000 genomes]
rs2404844	0.80[AFR][1000 genomes]
rs2404845	0.80[AFR][1000 genomes]
rs2404846	0.80[AFR][1000 genomes]
rs2404847	0.80[AFR][1000 genomes]
rs28458390	1.00[EUR][1000 genomes]
rs28684725	1.00[EUR][1000 genomes]
rs2896986	0.80[AFR][1000 genomes]
rs41345146	1.00[EUR][1000 genomes]
rs4353057	0.80[AFR][1000 genomes]
rs4653956	0.80[AFR][1000 genomes]
rs56947789	1.00[EUR][1000 genomes]
rs57380389	1.00[EUR][1000 genomes]
rs57469223	1.00[EUR][1000 genomes]
rs58090997	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58788859	1.00[EUR][1000 genomes]
rs58954846	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59433589	1.00[EUR][1000 genomes]
rs59561838	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59793743	1.00[EUR][1000 genomes]
rs59819476	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59948383	1.00[EUR][1000 genomes]
rs59970447	1.00[EUR][1000 genomes]
rs60715845	1.00[EUR][1000 genomes]
rs60831135	1.00[EUR][1000 genomes]
rs61144016	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61162360	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61347348	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6426108	0.80[AFR][1000 genomes]
rs6426112	0.80[AFR][1000 genomes]
rs6426167	1.00[EUR][1000 genomes]
rs6659249	0.80[AFR][1000 genomes]
rs6664674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671784	0.80[AFR][1000 genomes]
rs6687331	0.83[AFR][1000 genomes]
rs6702019	0.80[AFR][1000 genomes]
rs73114413	1.00[EUR][1000 genomes]
rs73122500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124453	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73124468	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124491	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126411	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126416	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73127438	1.00[EUR][1000 genomes]
rs73127450	1.00[EUR][1000 genomes]
rs73128442	1.00[EUR][1000 genomes]
rs7515215	1.00[EUR][1000 genomes]
rs7526301	0.80[AFR][1000 genomes]
rs7535007	0.80[AFR][1000 genomes]
rs908796	0.80[AFR][1000 genomes]
rs937155	0.80[AFR][1000 genomes]
rs969008	0.83[AFR][1000 genomes];0.83[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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224291600-224301600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224294200-224295200	Enhancers	HUVEC	blood vessel
3	chr1:224294400-224295000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:224294400-224295000	Flanking Active TSS	A549	lung
5	chr1:224294600-224295000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:224294600-224295200	Enhancers	Liver	Liver
7	chr1:224294600-224301200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:224294600-224301400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:224294800-224295200	Flanking Active TSS	HepG2	liver
10	chr1:224294800-224301200	Weak transcription	Stomach Mucosa	stomach

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