Variant report

Variant	rs4885346
Chromosome Location	chr13:76323485-76323486
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76317185..76320050-chr13:76322503..76324953,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs552030	0.82[ASN][1000 genomes]
rs7320216	0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7320602	0.89[ASN][1000 genomes]
rs7336473	0.87[ASN][1000 genomes]
rs7983875	0.91[ASN][1000 genomes]
rs7991448	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9530466	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1091	chr13:76282392-76327906	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4885346	KCTD12	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76306200-76330600	Weak transcription	Thymus	Thymus
2	chr13:76308200-76324800	Weak transcription	Left Ventricle	heart
3	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:76313600-76324800	Weak transcription	Psoas Muscle	Psoas
5	chr13:76313800-76323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:76314000-76323600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:76314000-76323800	Weak transcription	Fetal Heart	heart
8	chr13:76319000-76323600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:76319000-76323600	Weak transcription	NHEK	skin
10	chr13:76321200-76324600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:76322200-76324000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:76322200-76324800	Enhancers	NHDF-Ad	bronchial
13	chr13:76322400-76334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:76322600-76323600	Weak transcription	NH-A	brain
15	chr13:76322800-76323800	Enhancers	Osteobl	bone
16	chr13:76322800-76324600	Weak transcription	HSMM	muscle
17	chr13:76323000-76324000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:76323000-76325200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:76323200-76323600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:76323200-76323600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr13:76323200-76324000	Enhancers	NHLF	lung
22	chr13:76323200-76325800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:76323400-76323600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:76323400-76323600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr13:76323400-76323800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:76323400-76323800	Enhancers	HSMMtube	muscle
27	chr13:76323400-76324000	Enhancers	Hela-S3	cervix

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