Variant report

Variant	rs12094971
Chromosome Location	chr1:168444520-168444521
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	chr1:168444486..168446892-chr1:168447378..168451317,3	K562	blood:

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

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

rs_ID	r²[population]
rs12069559	0.83[AMR][1000 genomes]
rs12072186	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12075499	0.83[AMR][1000 genomes]
rs12564897	0.83[AMR][1000 genomes]
rs28444116	1.00[EUR][1000 genomes]
rs41489748	0.83[AMR][1000 genomes]
rs74120913	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:168435800-168451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:168439200-168450200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:168439400-168446200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:168439400-168451400	Weak transcription	Ovary	ovary
5	chr1:168440400-168451200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:168440400-168453000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:168440600-168445800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:168440600-168445800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:168440600-168445800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:168440600-168446000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:168440600-168446400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:168442400-168447400	Enhancers	HepG2	liver
13	chr1:168443600-168445800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:168444000-168449800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:168444000-168450200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:168444000-168451400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:168444200-168444600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:168444200-168445000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:168444200-168445800	Weak transcription	Fetal Intestine Large	intestine
20	chr1:168444200-168446000	Weak transcription	Spleen	Spleen
21	chr1:168444200-168450400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:168444200-168450400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:168444200-168461000	Weak transcription	Liver	Liver

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