Variant report

Variant	rs9364700
Chromosome Location	chr6:164140272-164140273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164131958..164135418-chr6:164137750..164141579,4	K562	blood:
2	chr6:164131958..164136902-chr6:164137750..164142946,6	K562	blood:
3	chr6:164118210..164119752-chr6:164140006..164142481,2	K562	blood:
4	chr6:164129205..164131317-chr6:164138569..164140374,2	MCF-7	breast:
5	chr6:164139141..164141274-chr6:164142590..164144971,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10945917	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1885957	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1885958	0.82[ASN][1000 genomes]
rs4709006	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709007	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709008	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709009	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4709010	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4709748	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709754	0.84[AMR][1000 genomes]
rs6455915	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455916	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6931768	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741441	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7742234	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765631	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766259	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7766449	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9295229	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9347782	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9365603	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9458892	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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	nsv1019107	chr6:164056423-164144164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
rs9364700	RNASET2	cis	cerebellum	SCAN
rs9364700	FGFR1OP	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164131000-164151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:164133600-164151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:164134000-164140400	Weak transcription	Psoas Muscle	Psoas
4	chr6:164134000-164141000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:164134000-164146000	Weak transcription	Spleen	Spleen
6	chr6:164134200-164142400	Weak transcription	HSMM	muscle
7	chr6:164134400-164141600	Weak transcription	Brain Angular Gyrus	brain
8	chr6:164134400-164154200	Weak transcription	Right Atrium	heart
9	chr6:164134800-164141200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:164139000-164141600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:164139200-164140600	Enhancers	Brain Germinal Matrix	brain
12	chr6:164139200-164141200	Weak transcription	HSMMtube	muscle
13	chr6:164139200-164146200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:164139600-164146200	Weak transcription	Placenta	Placenta
15	chr6:164139800-164141200	Weak transcription	Fetal Brain Female	brain
16	chr6:164140000-164140600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:164140000-164141400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:164140000-164142400	Weak transcription	GM12878-XiMat	blood
19	chr6:164140200-164140400	Enhancers	Fetal Brain Male	brain
20	chr6:164140200-164140400	Enhancers	Fetal Muscle Trunk	muscle
21	chr6:164140200-164140800	Enhancers	Fetal Muscle Leg	muscle
22	chr6:164140200-164141000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:164140200-164144000	Weak transcription	Primary B cells from peripheral blood	blood

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