Variant report

Variant	rs12362105
Chromosome Location	chr11:76450908-76450909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76450173..76453012-chr11:76491965..76494864,2	K562	blood:
2	chr11:76449564..76451543-chr11:76496131..76497754,2	MCF-7	breast:
3	chr11:76446403..76452318-chr11:76452779..76457589,9	K562	blood:
4	chr11:76450787..76452506-chr11:76497901..76500387,2	K562	blood:
5	chr11:76448672..76451202-chr11:76476087..76478426,2	MCF-7	breast:
6	chr11:76446132..76447728-chr11:76448521..76450951,2	K562	blood:

Variant related genes	Relation type
ENSG00000255100	Chromatin interaction
ENSG00000182704	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11822653	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11826943	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12792283	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794131	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12798095	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12801851	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802806	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812296	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28428842	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34885552	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35714835	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55698208	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55920167	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55933713	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56203693	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56224101	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56274763	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56335423	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57042533	0.92[ASN][1000 genomes]
rs57847352	0.92[ASN][1000 genomes]
rs60543719	0.92[ASN][1000 genomes]
rs61621849	0.92[ASN][1000 genomes]
rs7103917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108890	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7122848	0.89[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123238	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7943760	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944011	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1850014	chr11:76384895-76464814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv976471	chr11:76435262-76459660	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv430404	chr11:76436952-76462852	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12362105	ACER3	cis	parietal	SCAN
rs12362105	KLHL35	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76433400-76456400	Weak transcription	Right Atrium	heart
2	chr11:76446400-76463200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:76447400-76458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:76448600-76451600	Weak transcription	K562	blood
5	chr11:76448800-76454600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:76448800-76456400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:76449200-76458000	Weak transcription	Fetal Brain Male	brain
8	chr11:76449400-76451200	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:76449400-76451400	Weak transcription	Adipose Nuclei	Adipose
10	chr11:76449400-76455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:76449400-76455600	Weak transcription	A549	lung
12	chr11:76449400-76458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:76450000-76456600	Weak transcription	Gastric	stomach
14	chr11:76450200-76451200	Enhancers	Liver	Liver
15	chr11:76450200-76452400	Weak transcription	Colonic Mucosa	Colon
16	chr11:76450400-76452400	Weak transcription	Spleen	Spleen
17	chr11:76450400-76454400	Weak transcription	Stomach Mucosa	stomach
18	chr11:76450400-76455600	Weak transcription	Placenta	Placenta
19	chr11:76450400-76463400	Weak transcription	Right Ventricle	heart
20	chr11:76450600-76455400	Weak transcription	Fetal Heart	heart

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