Variant report

Variant	rs9944742
Chromosome Location	chr18:12378679-12378680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12377168..12379207-chr18:12397711..12400933,3	K562	blood:
2	chr18:12306891..12312604-chr18:12376208..12378768,5	K562	blood:
3	chr18:12375314..12379217-chr18:12700733..12704866,11	K562	blood:
4	chr18:12376943..12379295-chr18:12946308..12947818,2	K562	blood:
5	chr18:12358323..12362507-chr18:12375018..12379122,7	K562	blood:
6	chr18:12306558..12308875-chr18:12376128..12379112,4	MCF-7	breast:
7	chr18:12374593..12378692-chr18:12406477..12410976,5	K562	blood:
8	chr18:12375798..12379149-chr18:12946624..12949226,4	MCF-7	breast:
9	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
10	chr18:12305251..12310573-chr18:12373540..12378768,12	K562	blood:
11	chr18:12373949..12378992-chr18:12946352..12949410,8	K562	blood:
12	chr18:11979615..11982143-chr18:12376173..12378788,2	K562	blood:
13	chr18:12375309..12380137-chr18:12701387..12704274,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251937	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000176014	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000141391	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11659246	0.80[ASN][1000 genomes]
rs11660106	0.80[ASN][1000 genomes]
rs11661684	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11661708	0.95[ASN][1000 genomes]
rs11663340	0.80[ASN][1000 genomes]
rs11664255	0.80[ASN][1000 genomes]
rs11664282	0.80[ASN][1000 genomes]
rs11872615	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12327346	0.96[ASN][1000 genomes]
rs28470464	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28823942	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3819091	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6416994	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231304	0.85[ASN][1000 genomes]
rs7233290	0.85[ASN][1000 genomes]
rs7235929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237135	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72875309	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7504616	0.80[ASN][1000 genomes]
rs9946108	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950665	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9964041	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9964437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9964720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9966470	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats 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	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers 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	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12378200-12386600	Weak transcription	Fetal Brain Male	brain
2	chr18:12378400-12382000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr18:12378600-12379200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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