Variant report

Variant	rs12808503
Chromosome Location	chr11:64326110-64326111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64326089..64328505-chr11:64330368..64332931,2	K562	blood:
2	chr11:64325775..64328636-chr11:64366449..64368257,2	K562	blood:
3	chr11:64325204..64328636-chr11:64366449..64368317,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11231808	0.81[ASN][1000 genomes]
rs11231815	0.97[ASN][1000 genomes]
rs11231822	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362644	0.97[ASN][1000 genomes]
rs12417589	0.81[ASN][1000 genomes]
rs17300741	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17300895	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17372915	0.88[EUR][1000 genomes]
rs2078267	0.87[EUR][1000 genomes]
rs2277312	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34812986	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3759053	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782099	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930195	0.97[ASN][1000 genomes]
rs4930426	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57827982	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591859	0.97[ASN][1000 genomes]
rs7102027	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7123852	0.81[ASN][1000 genomes]
rs7124676	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71456318	0.87[EUR][1000 genomes]
rs7929308	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940321	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943154	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64322800-64327200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64322800-64334000	Weak transcription	Right Atrium	heart
3	chr11:64323000-64333400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:64323200-64326800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:64323200-64327600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:64323800-64332600	Weak transcription	Pancreas	Pancrea
7	chr11:64324200-64327400	Weak transcription	Fetal Thymus	thymus
8	chr11:64324400-64327600	Weak transcription	Spleen	Spleen
9	chr11:64324600-64328400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:64324600-64328800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:64325000-64326400	Weak transcription	HepG2	liver
12	chr11:64325000-64327200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:64325000-64328200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr11:64325200-64327200	Weak transcription	Fetal Intestine Large	intestine
15	chr11:64325200-64328200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:64325400-64328000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:64325600-64326400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:64325600-64326800	Flanking Active TSS	Placenta	Placenta
19	chr11:64325600-64328000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:64325600-64328400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:64325800-64326200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:64325800-64326200	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:64325800-64326200	Enhancers	Fetal Kidney	kidney
24	chr11:64325800-64326200	Enhancers	Fetal Lung	lung
25	chr11:64325800-64326200	Bivalent Enhancer	Fetal Stomach	stomach
26	chr11:64325800-64326400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:64325800-64326400	Enhancers	Right Ventricle	heart
28	chr11:64325800-64326600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr11:64325800-64327200	Enhancers	Fetal Muscle Leg	muscle
30	chr11:64325800-64328000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:64325800-64328200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:64325800-64328200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr11:64325800-64328800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr11:64326000-64326200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:64326000-64326400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:64326000-64326600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:64326000-64328000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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