Variant report

Variant	rs1930632
Chromosome Location	chr1:170456064-170456065
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	chr1:170454919..170456946-chr1:170463210..170465319,2	K562	blood:

Variant related genes	Relation type
ENSG00000231407	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10733056	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10753814	0.87[AFR][1000 genomes]
rs10753815	0.90[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10800527	0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs10919425	0.86[AFR][1000 genomes]
rs12116909	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1333133	0.90[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1333142	1.00[YRI][hapmap]
rs1333150	0.82[AFR][1000 genomes]
rs1333155	0.89[AFR][1000 genomes]
rs1333156	0.89[AFR][1000 genomes]
rs1412892	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1412893	0.80[AFR][1000 genomes]
rs1412895	0.89[AFR][1000 genomes]
rs1537390	1.00[YRI][hapmap]
rs1537395	0.87[YRI][hapmap]
rs1537397	0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1576979	0.81[AFR][1000 genomes]
rs1576980	0.86[AFR][1000 genomes]
rs1855221	0.89[AFR][1000 genomes]
rs1928716	1.00[YRI][hapmap]
rs2104918	0.85[AFR][1000 genomes]
rs2150029	0.90[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2225322	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2421325	0.81[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2901401	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs3980839	0.82[AFR][1000 genomes]
rs4233350	0.80[AFR][1000 genomes]
rs4325194	0.80[AFR][1000 genomes]
rs4402174	0.86[AFR][1000 genomes]
rs4415629	0.80[AFR][1000 genomes]
rs4656769	0.83[AFR][1000 genomes]
rs4656775	0.88[AFR][1000 genomes]
rs4656777	0.88[AFR][1000 genomes]
rs4656779	1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4656783	0.81[AFR][1000 genomes]
rs6427260	0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6427261	0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6657164	0.86[AFR][1000 genomes]
rs6660575	0.87[AFR][1000 genomes]
rs6664037	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6667304	0.83[AFR][1000 genomes]
rs6669308	0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6670724	0.86[AFR][1000 genomes]
rs6671312	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6676081	0.85[AFR][1000 genomes]
rs6693763	0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6701218	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs6703801	0.80[AFR][1000 genomes]
rs7531125	0.90[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7538125	0.89[AFR][1000 genomes]
rs7548443	0.86[AFR][1000 genomes]
rs7553254	1.00[YRI][hapmap];0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170451200-170456600	Weak transcription	Dnd41	blood
2	chr1:170451200-170457200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:170455600-170456600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:170455600-170456600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:170455600-170457600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:170455800-170456400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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