Variant report

Variant	rs12754926
Chromosome Location	chr1:77939381-77939382
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	chr1:77931036..77935396-chr1:77935652..77939462,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12044354	0.85[ASN][1000 genomes]
rs1909204	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2247536	0.85[ASN][1000 genomes]
rs2647503	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2647504	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77933600-77944400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77934200-77948800	Weak transcription	Right Atrium	heart
5	chr1:77934600-77955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:77934800-77939400	Weak transcription	HSMMtube	muscle
7	chr1:77935000-77939400	Weak transcription	Brain Anterior Caudate	brain
8	chr1:77935600-77939600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:77935600-77939600	Weak transcription	Hela-S3	cervix
10	chr1:77935600-77940000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:77935600-77955800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:77935800-77940600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:77935800-77941400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:77935800-77954800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:77937000-77940600	Strong transcription	Primary T cells from cord blood	blood
16	chr1:77938200-77939600	Weak transcription	Brain Substantia Nigra	brain
17	chr1:77938200-77948800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:77938400-77940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:77938600-77940400	Enhancers	NHDF-Ad	bronchial
20	chr1:77938800-77940400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:77938800-77940400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:77939000-77939800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:77939000-77940200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:77939000-77940200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:77939000-77940200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:77939000-77940200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:77939000-77940200	Enhancers	NH-A	brain
28	chr1:77939000-77940200	Genic enhancers	NHLF	lung
29	chr1:77939000-77940400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:77939000-77940400	Enhancers	HSMM	muscle
31	chr1:77939000-77940400	Enhancers	Osteobl	bone
32	chr1:77939000-77940800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:77939200-77945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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