Variant report

Variant	rs11875244
Chromosome Location	chr18:11366045-11366046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11365422..11368107-chr18:11369028..11370592,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10502411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080513	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11874128	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11874322	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11874993	0.91[AMR][1000 genomes]
rs11875572	0.89[AMR][1000 genomes]
rs11876925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11877517	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12604551	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12606655	0.84[AMR][1000 genomes]
rs12606698	0.84[AMR][1000 genomes]
rs12606899	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1455239	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1455240	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16976192	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16976195	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16976198	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16976210	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16976241	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16976252	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16976257	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2124226	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34504928	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35650447	0.91[AMR][1000 genomes]
rs4796921	0.91[AMR][1000 genomes]
rs4797530	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4797531	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59277006	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60157452	0.91[AMR][1000 genomes]
rs7233929	0.88[AMR][1000 genomes]
rs7235505	0.88[AMR][1000 genomes]
rs7236196	0.88[AMR][1000 genomes]
rs7241333	0.81[AMR][1000 genomes]
rs7241439	0.88[AMR][1000 genomes]
rs7241680	0.88[AMR][1000 genomes]
rs7241771	0.88[AMR][1000 genomes]
rs7242297	0.88[AMR][1000 genomes]
rs7242962	0.88[AMR][1000 genomes]
rs7244862	0.91[AMR][1000 genomes]
rs72636735	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72636736	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72636737	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72636738	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72636739	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72636740	0.96[AMR][1000 genomes]
rs72636741	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72636742	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72636743	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72636746	0.91[AMR][1000 genomes]
rs72636747	0.91[AMR][1000 genomes]
rs72636748	0.88[AMR][1000 genomes]
rs72636749	0.91[AMR][1000 genomes]
rs72636750	0.91[AMR][1000 genomes]
rs72636751	0.91[AMR][1000 genomes]
rs9956090	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv833589	chr18:11293101-11454521	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3336425	chr18:11328001-11375388	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv1056541	chr18:11336695-11558542	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv543651	chr18:11336695-11558542	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv458031	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv576482	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv3364280	chr18:11364152-11367350	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11364400-11369400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:11365200-11366400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:11366000-11366200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:11366000-11366200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr18:11366000-11366400	Enhancers	HSMMtube	muscle
6	chr18:11366000-11367400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:11366000-11367800	Enhancers	Fetal Heart	heart
8	chr18:11366000-11367800	Enhancers	Skeletal Muscle Male	skeletal muscle

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