Variant report

Variant	rs12377175
Chromosome Location	chr9:8417501-8417502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:8416687..8418830-chr9:8420950..8422628,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10511494	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10815845	0.97[ASN][1000 genomes]
rs10815846	0.97[ASN][1000 genomes]
rs10815847	0.97[ASN][1000 genomes]
rs10815849	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10815855	0.94[ASN][1000 genomes]
rs10815856	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10815857	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10977024	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10977035	0.94[ASN][1000 genomes]
rs10977046	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10977052	0.91[ASN][1000 genomes]
rs10977057	0.94[ASN][1000 genomes]
rs10977059	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10977062	0.91[ASN][1000 genomes]
rs10977064	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10977073	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10977074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10977084	0.81[AFR][1000 genomes]
rs10977085	0.83[AFR][1000 genomes]
rs10977089	0.83[AFR][1000 genomes]
rs12376680	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12685058	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1500331	0.97[ASN][1000 genomes]
rs1500334	0.82[EUR][1000 genomes]
rs17561379	0.94[ASN][1000 genomes]
rs1909758	0.94[ASN][1000 genomes]
rs2381797	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv613287	chr9:8408453-8422302	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8389600-8451000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8394000-8424400	Weak transcription	Fetal Lung	lung
3	chr9:8402400-8421000	Weak transcription	Brain Hippocampus Middle	brain
4	chr9:8402600-8448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:8402800-8438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:8405800-8438000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:8408200-8429200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:8410400-8420200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:8410600-8420000	Weak transcription	Brain Germinal Matrix	brain
10	chr9:8410600-8420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:8410600-8436800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:8410800-8419800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr9:8410800-8420400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:8415400-8419800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:8415400-8435800	Weak transcription	Brain Inferior Temporal Lobe	brain

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