Variant report

Variant	rs2654912
Chromosome Location	chr1:213464740-213464741
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	chr1:213464547..213466524-chr1:213466664..213468463,2	K562	blood:
2	chr1:213459940..213462323-chr1:213462657..213464745,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11120125	1.00[ASN][1000 genomes]
rs1187790	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1187798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1187799	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1187800	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1187803	0.93[AFR][1000 genomes]
rs1187806	0.85[AFR][1000 genomes]
rs12127112	1.00[ASN][1000 genomes]
rs1369215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1656004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2359570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2654910	0.87[AFR][1000 genomes]
rs2654913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2817982	1.00[ASN][1000 genomes]
rs2817985	0.84[MKK][hapmap]
rs2841421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2841429	1.00[ASN][1000 genomes]
rs2841438	1.00[ASN][1000 genomes]
rs320429	1.00[ASN][1000 genomes]
rs35281247	1.00[ASN][1000 genomes]
rs57318993	1.00[ASN][1000 genomes]
rs58141535	1.00[ASN][1000 genomes]
rs58153233	1.00[ASN][1000 genomes]
rs58305443	1.00[ASN][1000 genomes]
rs58489960	1.00[ASN][1000 genomes]
rs58860460	1.00[ASN][1000 genomes]
rs59165361	1.00[ASN][1000 genomes]
rs59319827	1.00[ASN][1000 genomes]
rs60414722	1.00[ASN][1000 genomes]
rs74142114	1.00[ASN][1000 genomes]
rs74142116	1.00[ASN][1000 genomes]
rs74142117	1.00[ASN][1000 genomes]
rs7533253	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213440000-213469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:213440800-213465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:213458400-213466400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:213463200-213465800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:213463600-213464800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:213463600-213465200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:213463600-213466800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:213463800-213465800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:213464000-213467000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:213464600-213465200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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