Variant report

Variant	rs11054803
Chromosome Location	chr12:12471430-12471431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10845528	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11054801	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12297085	0.85[AFR][1000 genomes]
rs7134469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303340	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963823	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7964141	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7966994	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12462400-12472600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:12464400-12472400	Weak transcription	Colonic Mucosa	Colon
3	chr12:12466000-12484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:12467000-12484400	Weak transcription	Small Intestine	intestine
5	chr12:12467600-12472600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:12468000-12472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:12469000-12472000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:12469000-12472400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:12469400-12471600	Weak transcription	Fetal Intestine Large	intestine
10	chr12:12469400-12471600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:12469400-12472600	Weak transcription	Stomach Mucosa	stomach
12	chr12:12469400-12472600	Weak transcription	Hela-S3	cervix
13	chr12:12469400-12472600	Weak transcription	HepG2	liver
14	chr12:12469600-12472400	Weak transcription	Pancreas	Pancrea
15	chr12:12470200-12472800	Weak transcription	Gastric	stomach
16	chr12:12470600-12480800	Weak transcription	K562	blood
17	chr12:12471400-12472600	Enhancers	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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