Variant report

Variant	rs645067
Chromosome Location	chr8:61562268-61562269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:61545345..61549170-chr8:61560322..61564526,3	K562	blood:
2	chr8:61559948..61562739-chr8:61935074..61937781,2	K562	blood:
3	chr8:61559414..61562371-chr8:61591268..61592916,2	K562	blood:
4	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
5	chr8:61428155..61432658-chr8:61561209..61565927,6	K562	blood:
6	chr8:61530201..61533148-chr8:61561938..61565788,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-5	chr8:61558738-61564811	NONHSAT126845

No data

Variant related genes	Relation type
ENSG00000104388	Chromatin interaction
ENSG00000171316	Chromatin interaction
ENSG00000251396	Chromatin interaction
ENSG00000228862	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10090193	0.80[ASN][1000 genomes]
rs2054670	0.89[ASN][1000 genomes]
rs2625442	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2680296	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2680297	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2680298	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs597123	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs601778	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs605701	0.86[ASN][1000 genomes]
rs608740	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs609264	0.81[ASN][1000 genomes]
rs617434	0.82[ASN][1000 genomes]
rs618190	0.82[ASN][1000 genomes]
rs622755	0.81[ASN][1000 genomes]
rs623845	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs623917	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs625979	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs626913	0.82[ASN][1000 genomes]
rs629523	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs645765	0.89[ASN][1000 genomes]
rs657718	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs658176	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs665893	0.88[ASN][1000 genomes]
rs671204	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs671576	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs673802	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs685985	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs686852	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7822621	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs645067	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61554200-61564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:61556600-61563200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:61558800-61563600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:61558800-61563600	Weak transcription	Left Ventricle	heart
5	chr8:61559200-61563200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:61559200-61563400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:61559200-61563600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:61559400-61563400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:61559800-61563600	Weak transcription	Fetal Brain Male	brain
10	chr8:61560200-61563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:61560600-61563000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:61560800-61563600	Weak transcription	Right Ventricle	heart
13	chr8:61561200-61563200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:61561200-61563600	Weak transcription	K562	blood
15	chr8:61562200-61563200	Weak transcription	Brain Hippocampus Middle	brain

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