Variant report

Variant	rs12523725
Chromosome Location	chr6:36967464-36967465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36952379..36955102-chr6:36965979..36971792,7	MCF-7	breast:
2	chr6:36967024..36973771-chr6:36979699..36986633,7	K562	blood:
3	chr6:36951360..36957548-chr6:36964706..36970928,10	K562	blood:
4	chr6:36966223..36968273-chr6:36968808..36971122,3	K562	blood:
5	chr6:36851693..36853649-chr6:36966892..36968803,2	MCF-7	breast:
6	chr6:36964178..36967540-chr6:36970147..36973518,3	K562	blood:
7	chr6:36951556..36954050-chr6:36967032..36970466,4	K562	blood:

Variant related genes	Relation type
ENSG00000198663	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000146192	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12525363	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12527993	0.89[ASN][1000 genomes]
rs12530030	0.87[ASN][1000 genomes]
rs13193265	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13204008	0.89[ASN][1000 genomes]
rs1554721	0.89[EUR][1000 genomes]
rs36045710	0.86[ASN][1000 genomes]
rs3822972	0.83[ASN][1000 genomes]
rs4711477	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4711478	0.97[EUR][1000 genomes]
rs4714030	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4714031	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56738294	0.85[ASN][1000 genomes]
rs62406531	0.94[EUR][1000 genomes]
rs708008	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs831380	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv885816	chr6:36965099-36999682	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36963600-36967800	Enhancers	Pancreas	Pancrea
2	chr6:36964800-36967600	Enhancers	Fetal Muscle Leg	muscle
3	chr6:36965000-36967600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:36965000-36967600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:36965200-36967600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:36965200-36967600	Enhancers	Brain Anterior Caudate	brain
7	chr6:36965200-36967600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:36965400-36967600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr6:36965400-36967600	Enhancers	Right Ventricle	heart
10	chr6:36965600-36968200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:36966200-36967600	Enhancers	Brain Substantia Nigra	brain
12	chr6:36966400-36973400	Weak transcription	Esophagus	oesophagus
13	chr6:36966600-36967600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:36966600-36973800	Weak transcription	Right Atrium	heart
15	chr6:36966800-36968000	Enhancers	Primary B cells from cord blood	blood
16	chr6:36966800-36973400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:36966800-36975000	Weak transcription	Psoas Muscle	Psoas
18	chr6:36967000-36967800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:36967000-36969800	Weak transcription	Spleen	Spleen
20	chr6:36967000-36973600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:36967200-36967600	Enhancers	Fetal Kidney	kidney
22	chr6:36967400-36968800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:36967400-36973400	Weak transcription	Left Ventricle	heart

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