Variant report

Variant	rs62177212
Chromosome Location	chr2:179070496-179070497
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	chr2:179060830..179065562-chr2:179066300..179070960,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55733635	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60829693	0.93[EUR][1000 genomes]
rs62176040	0.83[EUR][1000 genomes]
rs62177185	0.83[EUR][1000 genomes]
rs62177188	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62177210	0.93[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	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:27 , 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	chr2:179069400-179070600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:179069400-179070600	Enhancers	Brain Hippocampus Middle	brain
7	chr2:179069400-179071200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:179069400-179071200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:179069600-179070600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:179069800-179070600	Enhancers	Osteobl	bone
11	chr2:179069800-179071000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:179069800-179071200	Enhancers	HSMM	muscle
13	chr2:179069800-179071400	Enhancers	HMEC	breast
14	chr2:179070000-179070800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:179070000-179071400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:179070000-179076400	Weak transcription	Right Atrium	heart
17	chr2:179070200-179070600	Weak transcription	K562	blood
18	chr2:179070200-179071200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:179070200-179071200	Enhancers	NHDF-Ad	bronchial
20	chr2:179070200-179071400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:179070200-179071400	Enhancers	NHEK	skin
22	chr2:179070200-179075400	Weak transcription	Psoas Muscle	Psoas
23	chr2:179070200-179075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:179070200-179076200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:179070200-179076400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:179070400-179071000	Flanking Active TSS	NH-A	brain
27	chr2:179070400-179075800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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