Variant report

Variant	rs56057782
Chromosome Location	chr1:77496877-77496878
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77495560..77497572-chr1:77499811..77501669,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs199684	1.00[AMR][1000 genomes]
rs56247510	1.00[AMR][1000 genomes]
rs57176336	1.00[AMR][1000 genomes]
rs74089784	1.00[AMR][1000 genomes]
rs74089788	1.00[AMR][1000 genomes]
rs74089795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090515	1.00[AMR][1000 genomes]
rs74090518	1.00[AMR][1000 genomes]
rs74090519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090521	1.00[AMR][1000 genomes]
rs74090573	1.00[AMR][1000 genomes]
rs74092207	1.00[AMR][1000 genomes]
rs74092212	1.00[AMR][1000 genomes]
rs74092215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092224	1.00[AMR][1000 genomes]
rs74092236	1.00[AMR][1000 genomes]
rs74092238	1.00[AMR][1000 genomes]
rs74092239	1.00[AMR][1000 genomes]
rs7545097	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv830292	chr1:77425571-77584307	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77490600-77499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:77491800-77497000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:77492400-77498600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:77493400-77499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:77493800-77498800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:77493800-77503400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:77494200-77498000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:77494400-77497000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:77495800-77502600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:77496000-77497000	Weak transcription	Ovary	ovary
11	chr1:77496000-77497400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:77496200-77497200	Enhancers	Colon Smooth Muscle	Colon
13	chr1:77496200-77502400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:77496400-77497200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:77496400-77498200	Enhancers	A549	lung
16	chr1:77496600-77497000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:77496600-77497000	Enhancers	NHDF-Ad	bronchial
18	chr1:77496800-77497000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:77496800-77497000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:77496800-77497000	Enhancers	Fetal Stomach	stomach
21	chr1:77496800-77497000	Genic enhancers	NHEK	skin
22	chr1:77496800-77497400	Enhancers	HMEC	breast
23	chr1:77496800-77497600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:77496800-77497600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:77496800-77498000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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