Variant report

Variant	rs12223863
Chromosome Location	chr11:93278961-93278962
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11020413	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11020416	0.88[JPT][hapmap]
rs12416843	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12417178	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2399676	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2895470	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2895472	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4753468	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4753471	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7125151	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7126188	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7128507	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93277000-93282000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:93277200-93279800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:93277200-93280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:93277200-93280200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:93277200-93281800	Weak transcription	Spleen	Spleen
6	chr11:93277200-93293000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:93277400-93279000	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:93277400-93279800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:93277400-93279800	Weak transcription	Placenta	Placenta
10	chr11:93277400-93280000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:93277600-93279200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:93277600-93281400	Weak transcription	Fetal Intestine Large	intestine
13	chr11:93277800-93279200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:93278000-93279000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:93278000-93280800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:93278000-93281000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:93278000-93281200	Weak transcription	GM12878-XiMat	blood
18	chr11:93278200-93279200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:93278600-93279000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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