Variant report

Variant	rs12215053
Chromosome Location	chr6:34033811-34033812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr6:34033532-34034013	HEK293-T-REx	kidney:	n/a	chr6:34033744-34033753 chr6:34033764-34033785 chr6:34033778-34033787

No.	Distal block	Cell Line	Cell type
1	chr6:34032376..34034708-chr6:34039734..34041335,2	K562	blood:
2	chr6:34032456..34034110-chr6:34034876..34037099,2	K562	blood:
3	chr6:34024186..34027778-chr6:34033635..34036854,3	K562	blood:
4	chr6:33737959..33740435-chr6:34032927..34035702,2	K562	blood:

Variant related genes	Relation type
GRM4	TF binding region
ENSG00000221779	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10947475	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12192574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778062	0.85[YRI][hapmap]
rs3798537	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7751882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv462901	chr6:33953646-34050917	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv602861	chr6:33953646-34050917	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34024000-34036000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:34025000-34036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:34025000-34101800	Weak transcription	Right Atrium	heart
4	chr6:34025200-34035800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:34025200-34036000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:34025200-34039600	Weak transcription	Gastric	stomach
7	chr6:34027400-34066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:34031000-34034200	Enhancers	Fetal Brain Male	brain
9	chr6:34032600-34034000	Enhancers	Right Ventricle	heart
10	chr6:34032600-34034200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr6:34032600-34034600	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr6:34032800-34034000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:34032800-34034000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr6:34033000-34034000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr6:34033000-34034000	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr6:34033000-34034000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr6:34033200-34034000	Bivalent Enhancer	Brain Hippocampus Middle	brain
18	chr6:34033200-34034000	Enhancers	Ovary	ovary
19	chr6:34033200-34034400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:34033400-34034000	Enhancers	Brain Angular Gyrus	brain
21	chr6:34033400-34034000	Enhancers	Brain Anterior Caudate	brain
22	chr6:34033400-34034000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr6:34033400-34034200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:34033400-34034200	Bivalent Enhancer	Colon Smooth Muscle	Colon
25	chr6:34033400-34034600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:34033400-34034800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:34033800-34034000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr6:34033800-34034000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:34033800-34034200	Bivalent Enhancer	HMEC	breast
30	chr6:34033800-34034600	Bivalent Enhancer	NHEK	skin
31	chr6:34033800-34041400	Weak transcription	Fetal Brain Female	brain

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