Variant report

Variant	rs9295229
Chromosome Location	chr6:164154218-164154219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164149744..164152325-chr6:164152772..164156227,3	K562	blood:
2	chr6:164142207..164144992-chr6:164152114..164154827,2	K562	blood:
3	chr6:164151367..164155187-chr6:164160904..164163779,4	MCF-7	breast:
4	chr6:164137255..164140112-chr6:164154106..164157033,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10945917	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465134	0.85[ASN][1000 genomes]
rs1570409	0.81[AMR][1000 genomes]
rs1885957	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1885958	0.95[ASN][1000 genomes]
rs2209028	0.90[ASN][1000 genomes]
rs4235948	0.90[ASN][1000 genomes]
rs4709006	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4709007	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4709008	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4709009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4709010	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4709012	0.90[ASN][1000 genomes]
rs4709748	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4709754	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6455915	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6455916	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6931768	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7741441	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7742234	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7765631	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7766259	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7766449	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9347782	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9364700	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9365603	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9458892	0.96[AMR][1000 genomes];0.99[EUR][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1025171	chr6:164113981-164170027	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9295229	RNASET2	cis	cerebellum	SCAN
rs9295229	FGFR1OP	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164146400-164158000	Weak transcription	Spleen	Spleen
2	chr6:164147200-164154400	Weak transcription	Lung	lung
3	chr6:164148800-164154800	Enhancers	Fetal Heart	heart
4	chr6:164150200-164156000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:164150800-164154800	Enhancers	Fetal Muscle Leg	muscle
6	chr6:164151000-164156000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:164152200-164161000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:164152200-164162600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:164152600-164155800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:164152600-164161600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:164153200-164154600	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:164153400-164154400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr6:164153400-164154400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:164153400-164154600	Enhancers	Primary B cells from cord blood	blood
15	chr6:164153600-164154400	Enhancers	Liver	Liver
16	chr6:164153600-164154800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:164153600-164154800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:164153600-164156000	Weak transcription	K562	blood
19	chr6:164153800-164154600	Enhancers	Left Ventricle	heart
20	chr6:164154000-164154400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr6:164154000-164156000	Weak transcription	GM12878-XiMat	blood
22	chr6:164154200-164154400	Enhancers	HSMMtube	muscle
23	chr6:164154200-164154400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:164154200-164154600	Enhancers	Psoas Muscle	Psoas
25	chr6:164154200-164154800	Enhancers	Right Atrium	heart

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