Variant report

Variant	rs11209887
Chromosome Location	chr1:72469332-72469333
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	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10518394	0.94[EUR][1000 genomes]
rs10518395	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11802650	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803665	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11806908	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11807986	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12073102	0.89[EUR][1000 genomes]
rs12565657	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12566464	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12567329	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12567693	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17091969	0.92[EUR][1000 genomes]
rs17091972	0.93[EUR][1000 genomes]
rs17092041	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2768381	0.94[EUR][1000 genomes]
rs2786849	0.89[EUR][1000 genomes]
rs2801321	0.94[EUR][1000 genomes]
rs2801333	0.93[EUR][1000 genomes]
rs2801336	0.89[EUR][1000 genomes]
rs3845342	0.93[EUR][1000 genomes]
rs56081308	0.93[EUR][1000 genomes]
rs6424455	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7541380	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv999162	chr1:72319163-72477496	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv534995	chr1:72319163-72477496	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv428763	chr1:72353556-72499701	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1354	chr1:72431164-72475522	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv546478	chr1:72442018-72512391	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72466800-72471800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:72466800-72472000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:72467200-72471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:72468400-72469400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:72468600-72469400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:72468600-72469400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:72469000-72471800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:72469200-72470600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:72469200-72471600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:72469200-72471800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:72469200-72472000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:72469200-72472200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:72469200-72472400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:72469200-72472400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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