Variant report

Variant	rs9353320
Chromosome Location	chr6:86244848-86244849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:86244841-86244865	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86244402..86246705-chr6:86351828..86353927,2	K562	blood:
2	chr6:86244360..86246151-chr6:86281101..86282612,2	K562	blood:

Variant related genes	Relation type
SNX14	TF binding region
ENSG00000135316	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1059306	0.80[EUR][1000 genomes]
rs1173417	0.87[EUR][1000 genomes]
rs12199873	0.85[EUR][1000 genomes]
rs12205013	0.84[EUR][1000 genomes]
rs12212560	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2475792	0.85[EUR][1000 genomes]
rs2758840	0.84[EUR][1000 genomes]
rs2758842	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2758843	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2758844	0.84[EUR][1000 genomes]
rs2758845	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2758847	0.80[EUR][1000 genomes]
rs2842601	0.84[EUR][1000 genomes]
rs2842602	0.84[EUR][1000 genomes]
rs2842603	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2842604	0.81[EUR][1000 genomes]
rs2842607	0.81[EUR][1000 genomes]
rs2842608	0.85[EUR][1000 genomes]
rs2842609	0.85[EUR][1000 genomes]
rs2842612	0.84[EUR][1000 genomes]
rs2842613	0.83[EUR][1000 genomes]
rs2842614	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2842617	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3812133	0.81[EUR][1000 genomes]
rs4373337	0.89[ASN][1000 genomes]
rs4419647	0.85[EUR][1000 genomes]
rs4441928	0.87[EUR][1000 genomes]
rs4593336	0.88[ASN][1000 genomes]
rs4706240	0.82[EUR][1000 genomes]
rs6454473	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6909767	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935918	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7452605	0.87[EUR][1000 genomes]
rs7742691	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7752502	0.88[EUR][1000 genomes]
rs7757864	0.92[EUR][1000 genomes]
rs7762321	0.87[EUR][1000 genomes]
rs7768065	0.86[EUR][1000 genomes]
rs7771612	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7775864	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911927	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9294337	0.86[EUR][1000 genomes]
rs9342041	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9344532	0.82[EUR][1000 genomes]
rs9344533	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344542	0.85[EUR][1000 genomes]
rs9353318	0.86[EUR][1000 genomes]
rs9353327	0.85[EUR][1000 genomes]
rs9359658	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9362230	0.84[EUR][1000 genomes]
rs9450282	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9450287	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9450290	0.86[EUR][1000 genomes]
rs9450302	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv520112	chr6:86144875-86247759	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv463939	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv470839	chr6:86205323-86279737	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv604093	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
15	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
16	nsv516516	chr6:86234835-86278691	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs9353320	SNHG5	cis	Artery Aorta	GTEx
rs9353320	SNHG5	cis	Esophagus Mucosa	GTEx
rs9353320	SNHG5	cis	Nerve Tibial	GTEx
rs9353320	SNHG5	cis	multi-tissue	Pritchard
rs9353320	SNHG5	cis	Artery Tibial	GTEx
rs9353320	SNHG5	cis	lung	GTEx
rs9353320	SNHG5	cis	Adipose Subcutaneous	GTEx
rs9353320	SNHG5	cis	Esophagus Muscularis	GTEx
rs9353320	SNHG5	cis	Heart Left Ventricle	GTEx
rs9353320	SNHG5	cis	Thyroid	GTEx
rs9353320	SNHG5	cis	Whole Blood	GTEx
rs9353320	SNHG5	Cis_1M	lymphoblastoid	RTeQTL
rs9353320	SNHG5	cis	Muscle Skeletal	GTEx
rs9353320	SNHG5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86208800-86284600	Weak transcription	Small Intestine	intestine
2	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
3	chr6:86211400-86246400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:86212000-86246600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:86218000-86260200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:86218400-86266200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:86219200-86246200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:86220200-86252400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:86220200-86257200	Weak transcription	Fetal Heart	heart
10	chr6:86221000-86245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:86221800-86285800	Weak transcription	Fetal Brain Male	brain
12	chr6:86222200-86249800	Weak transcription	Aorta	Aorta
13	chr6:86222600-86289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:86223200-86260200	Weak transcription	Lung	lung
15	chr6:86223400-86262800	Weak transcription	Stomach Mucosa	stomach
16	chr6:86223400-86285000	Weak transcription	Brain Substantia Nigra	brain
17	chr6:86223800-86262600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:86224000-86252600	Weak transcription	Brain Germinal Matrix	brain
19	chr6:86224000-86255800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:86224000-86279000	Weak transcription	NHLF	lung
21	chr6:86224200-86302600	Weak transcription	Colonic Mucosa	Colon
22	chr6:86224400-86252600	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:86227800-86252400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:86228600-86246400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr6:86229800-86246400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:86230000-86263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:86230400-86246200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:86230400-86246600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:86230400-86246600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:86230600-86246800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:86231000-86246400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:86231200-86245600	Weak transcription	HUVEC	blood vessel
33	chr6:86231200-86285000	Weak transcription	Hela-S3	cervix
34	chr6:86232800-86245800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:86233000-86253800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:86233000-86257000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:86233400-86257800	Weak transcription	Ovary	ovary
38	chr6:86233400-86262200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:86233600-86262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:86233800-86289200	Weak transcription	Spleen	Spleen
41	chr6:86234000-86261000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:86234200-86251600	Weak transcription	Dnd41	blood
43	chr6:86235800-86246200	Strong transcription	Fetal Intestine Large	intestine
44	chr6:86236600-86251800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:86236600-86255600	Weak transcription	HSMMtube	muscle
46	chr6:86236600-86279000	Weak transcription	HMEC	breast
47	chr6:86237200-86246400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:86238400-86245200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:86238600-86246200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:86239000-86246200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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