Variant report

Variant	rs17380544
Chromosome Location	chr1:77958712-77958713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10873944	0.80[EUR][1000 genomes]
rs11162355	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs11162356	0.81[EUR][1000 genomes]
rs11162357	0.80[EUR][1000 genomes]
rs2803152	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs34855794	0.81[EUR][1000 genomes]
rs6704141	0.84[GIH][hapmap]
rs7514041	0.80[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 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	chr1:77940600-77960800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:77945800-77961600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:77955800-77964400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:77956000-77960800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:77956000-77961600	Weak transcription	NHLF	lung
7	chr1:77956000-77964600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:77956200-77959000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:77956200-77959400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:77956200-77961600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:77956200-77964000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:77956200-77964200	Weak transcription	NHDF-Ad	bronchial
13	chr1:77956200-77964400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:77956200-77975600	Weak transcription	HSMMtube	muscle
15	chr1:77958000-77958800	Enhancers	Brain Anterior Caudate	brain
16	chr1:77958000-77960000	Strong transcription	HSMM	muscle
17	chr1:77958200-77974800	Weak transcription	Brain Angular Gyrus	brain
18	chr1:77958400-77958800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:77958400-77961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:77958400-77974600	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:77958600-77958800	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:77958600-77959200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:77958600-77960200	Strong transcription	Primary T cells from cord blood	blood
24	chr1:77958600-77965000	Weak transcription	Brain Inferior Temporal Lobe	brain

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