Variant report

Variant	rs12405846
Chromosome Location	chr1:86031615-86031616
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	chr1:86029966..86032926-chr1:86033202..86036409,3	K562	blood:
2	chr1:86031426..86034385-chr1:86034909..86037584,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12405017	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12410234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:86011600-86035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:86017200-86032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:86019800-86034000	Weak transcription	Aorta	Aorta
4	chr1:86021200-86032400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:86021400-86032400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:86021400-86032400	Weak transcription	HUVEC	blood vessel
7	chr1:86021800-86034600	Weak transcription	Fetal Stomach	stomach
8	chr1:86022200-86034000	Weak transcription	NHLF	lung
9	chr1:86022200-86034200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:86022200-86034400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:86022400-86032800	Strong transcription	HSMM	muscle
12	chr1:86023800-86033200	Strong transcription	Osteobl	bone
13	chr1:86025800-86034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:86026800-86032400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:86028400-86032800	Weak transcription	NH-A	brain
16	chr1:86028400-86034000	Weak transcription	HSMMtube	muscle
17	chr1:86028400-86034200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:86029200-86032400	Weak transcription	NHDF-Ad	bronchial
19	chr1:86029200-86034400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:86029600-86033400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:86029800-86031800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:86029800-86034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:86030200-86033200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:86030400-86032400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:86030400-86032600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr1:86030400-86032800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:86031400-86033400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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