Variant report

Variant	rs17249055
Chromosome Location	chr12:67788515-67788516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67779762..67781481-chr12:67788045..67789679,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAND1-1	chr12:67788395-67788662	XLOC_009790

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10878612	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176645	0.86[EUR][1000 genomes]
rs11176681	0.95[JPT][hapmap]
rs11176719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73322620	0.80[AFR][1000 genomes]
rs73322626	0.80[AFR][1000 genomes]
rs73322688	0.80[AFR][1000 genomes]
rs73324507	0.83[AFR][1000 genomes]
rs73324544	0.83[AFR][1000 genomes]
rs73324548	0.83[AFR][1000 genomes]
rs73324553	0.83[AFR][1000 genomes]
rs73324554	0.83[AFR][1000 genomes]
rs73324565	0.82[AFR][1000 genomes]
rs73326424	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67787200-67789000	Enhancers	Fetal Muscle Leg	muscle
2	chr12:67787600-67789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:67787800-67789200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67788000-67789000	Enhancers	NH-A	brain
5	chr12:67788000-67789200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:67788000-67789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:67788000-67789200	Enhancers	HMEC	breast
8	chr12:67788000-67789200	Enhancers	NHEK	skin
9	chr12:67788200-67788600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:67788200-67788600	Enhancers	Brain Substantia Nigra	brain
11	chr12:67788200-67788600	Enhancers	Osteobl	bone
12	chr12:67788200-67788800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:67788200-67788800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:67788200-67788800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:67788200-67788800	Enhancers	Adipose Nuclei	Adipose
16	chr12:67788200-67788800	Enhancers	Fetal Lung	lung
17	chr12:67788200-67788800	Enhancers	Psoas Muscle	Psoas
18	chr12:67788200-67789000	Enhancers	HSMMtube	muscle
19	chr12:67788200-67789200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:67788400-67788600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:67788400-67788800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:67788400-67788800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:67788400-67788800	Enhancers	Esophagus	oesophagus
24	chr12:67788400-67788800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr12:67788400-67788800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr12:67788400-67788800	Enhancers	NHDF-Ad	bronchial
27	chr12:67788400-67789000	Enhancers	Colon Smooth Muscle	Colon

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