Variant report

Variant	rs320276
Chromosome Location	chr9:104849677-104849678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1165880	0.84[ASN][1000 genomes]
rs1418241	0.87[ASN][1000 genomes]
rs170351	0.93[ASN][1000 genomes]
rs192931	0.92[EUR][1000 genomes]
rs1935373	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.88[ASN][1000 genomes]
rs2814753	0.83[ASN][1000 genomes]
rs320171	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs320176	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs320187	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs320286	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs320287	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs320291	0.80[EUR][1000 genomes]
rs320293	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320296	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048227	chr9:104546761-105162810	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv893633	chr9:104642966-104902874	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv521116	chr9:104642966-104904454	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2422433	chr9:104736829-104878805	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv893634	chr9:104754832-104942186	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv615012	chr9:104760482-104879699	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv893635	chr9:104789573-104990394	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv831673	chr9:104799184-104938276	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2754098	chr9:104817599-104873300	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv893636	chr9:104817599-104921712	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv8554	chr9:104822769-104877902	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv831674	chr9:104827719-105011190	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv466445	chr9:104837536-104857475	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv615014	chr9:104837536-104857475	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2757346	chr9:104839357-104883836	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv2759705	chr9:104839357-104883836	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv2752272	chr9:104839357-104961860	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv466446	chr9:104841979-104858813	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv615015	chr9:104841979-104858813	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv893637	chr9:104849677-104916455	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv893638	chr9:104849677-104938113	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs320276	MRPL50	cis	cerebellum	SCAN
rs320276	GAS2L1	trans	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104849400-104850000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:104849600-104850000	Enhancers	HUES48 Cell Line	embryonic stem cell

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