Variant report

Variant	rs62177216
Chromosome Location	chr2:179077756-179077757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179076997..179079458-chr2:179080638..179082932,3	K562	blood:
2	chr2:179076705..179078596-chr2:179080919..179084346,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17695665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923346	0.84[EUR][1000 genomes]
rs55937235	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58922071	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60829693	0.87[ASN][1000 genomes]
rs62177188	0.87[ASN][1000 genomes]
rs62177210	0.87[ASN][1000 genomes]
rs62177215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177223	0.84[EUR][1000 genomes]
rs62177224	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177225	0.95[AMR][1000 genomes];0.91[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179071400-179078000	Weak transcription	HMEC	breast
2	chr2:179072000-179078000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:179074000-179077800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:179075200-179079000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:179075800-179078400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:179076000-179077800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:179076200-179079200	Enhancers	Fetal Brain Male	brain
8	chr2:179076600-179078200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:179076600-179078200	Weak transcription	Psoas Muscle	Psoas
10	chr2:179076600-179078400	Weak transcription	K562	blood
11	chr2:179076600-179081400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:179076600-179087600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:179076600-179088000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:179076800-179078000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:179077200-179088200	Weak transcription	Brain Anterior Caudate	brain
16	chr2:179077200-179089600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:179077400-179077800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:179077400-179078200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr2:179077600-179077800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
20	chr2:179077600-179078000	Weak transcription	Fetal Brain Female	brain
21	chr2:179077600-179078600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:179077600-179079000	Enhancers	Skeletal Muscle Male	skeletal muscle

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