Variant report

Variant	rs56099294
Chromosome Location	chr18:61832690-61832691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55656987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55916431	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56172886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59442264	0.83[AFR][1000 genomes]
rs60207215	0.83[AFR][1000 genomes]
rs7236160	0.83[AFR][1000 genomes]
rs73962194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73962195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73962197	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73962198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73962199	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73962201	0.83[AFR][1000 genomes]
rs8088409	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8092839	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061206	chr18:61366124-61916842	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription 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 lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv543733	chr18:61366124-61916842	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv16044	chr18:61382356-61945364	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv909694	chr18:61766039-61986584	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv909695	chr18:61766946-61857065	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1060298	chr18:61828056-61989273	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv543734	chr18:61828056-61989273	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3435329	chr18:61830822-61832770	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
9	nsv961137	chr18:61831310-61835684	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:61830600-61833200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:61830800-61833000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr18:61830800-61833200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:61832000-61835200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:61832000-61835400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:61832000-61835600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr18:61832200-61833000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:61832400-61832800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr18:61832600-61833000	Weak transcription	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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