Variant report

Variant	rs62177214
Chromosome Location	chr2:179076729-179076730
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179076705..179078596-chr2:179080919..179084346,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12151683	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334032	0.82[EUR][1000 genomes]
rs55819460	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177217	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731799	0.85[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179070800-179077200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:179071400-179078000	Weak transcription	HMEC	breast
3	chr2:179072000-179078000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:179074000-179077800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:179075000-179076800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:179075200-179079000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:179075600-179076800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr2:179075600-179077000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:179075800-179077000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:179075800-179077200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:179075800-179078400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:179076000-179077200	Enhancers	Brain Anterior Caudate	brain
13	chr2:179076000-179077400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:179076000-179077800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:179076200-179076800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:179076200-179076800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:179076200-179076800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr2:179076200-179076800	Enhancers	Brain Substantia Nigra	brain
19	chr2:179076200-179077400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:179076200-179079200	Enhancers	Fetal Brain Male	brain
21	chr2:179076400-179076800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:179076400-179076800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:179076400-179076800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr2:179076400-179076800	Enhancers	Fetal Stomach	stomach
25	chr2:179076400-179077600	Enhancers	Brain Germinal Matrix	brain
26	chr2:179076400-179077600	Enhancers	Fetal Brain Female	brain
27	chr2:179076600-179076800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr2:179076600-179077200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:179076600-179077400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:179076600-179078200	Weak transcription	Brain Angular Gyrus	brain
31	chr2:179076600-179078200	Weak transcription	Psoas Muscle	Psoas
32	chr2:179076600-179078400	Weak transcription	K562	blood
33	chr2:179076600-179081400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:179076600-179087600	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:179076600-179088000	Weak transcription	Brain Cingulate Gyrus	brain

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