Variant report

Variant	rs56158211
Chromosome Location	chr2:179070379-179070380
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	chr2:179060830..179065562-chr2:179066300..179070960,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10185989	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs334090	1.00[AMR][1000 genomes]
rs55637764	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55722360	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55729109	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55919122	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56249302	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179060800-179076200	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:179061000-179070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:179068800-179072400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:179069000-179071000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:179069400-179070400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:179069400-179070600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:179069400-179070600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:179069400-179071200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:179069400-179071200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:179069600-179070600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:179069800-179070400	Enhancers	NH-A	brain
12	chr2:179069800-179070600	Enhancers	Osteobl	bone
13	chr2:179069800-179071000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:179069800-179071200	Enhancers	HSMM	muscle
15	chr2:179069800-179071400	Enhancers	HMEC	breast
16	chr2:179070000-179070400	Enhancers	Brain Substantia Nigra	brain
17	chr2:179070000-179070800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:179070000-179071400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:179070000-179076400	Weak transcription	Right Atrium	heart
20	chr2:179070200-179070600	Weak transcription	K562	blood
21	chr2:179070200-179071200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:179070200-179071200	Enhancers	NHDF-Ad	bronchial
23	chr2:179070200-179071400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:179070200-179071400	Enhancers	NHEK	skin
25	chr2:179070200-179075400	Weak transcription	Psoas Muscle	Psoas
26	chr2:179070200-179075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:179070200-179076200	Weak transcription	Brain Angular Gyrus	brain
28	chr2:179070200-179076400	Weak transcription	Brain Cingulate Gyrus	brain

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