Variant report

Variant	rs4885318
Chromosome Location	chr13:76151537-76151538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12427755	0.88[ASN][1000 genomes]
rs12427931	0.88[ASN][1000 genomes]
rs12428989	0.88[ASN][1000 genomes]
rs1535724	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2031236	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296146	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328959	0.90[ASN][1000 genomes]
rs2328960	0.94[ASN][1000 genomes]
rs2328963	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2328964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876706	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783028	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3818355	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4611344	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4885322	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4885323	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4885324	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55777620	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55927305	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6562913	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6562914	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6562915	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6562916	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6562918	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7139740	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7317250	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73223968	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223984	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7324195	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7329512	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7339146	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7981698	0.88[ASN][1000 genomes]
rs7982517	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7986566	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7989568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7996884	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8192755	0.96[ASN][1000 genomes]
rs8192756	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8192762	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8192763	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8192764	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9318361	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9530447	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9543972	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9543976	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543990	0.96[ASN][1000 genomes]
rs9543992	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9544004	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9565177	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9573591	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9573592	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs974373	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv900566	chr13:76123678-76153748	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900567	chr13:76123678-76156136	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv900568	chr13:76123678-76159104	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv900569	chr13:76123678-76167433	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv900570	chr13:76123678-76176680	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv900572	chr13:76130761-76156136	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv900573	chr13:76130761-76159104	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv562347	chr13:76132240-76153415	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv900574	chr13:76132484-76156136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv900575	chr13:76132484-76159104	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv900576	chr13:76132484-76176680	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv900578	chr13:76136976-76167433	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4885318	RP11-173B14.5	cis	Artery Tibial	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76124600-76183000	Weak transcription	Small Intestine	intestine
2	chr13:76124800-76164000	Weak transcription	Spleen	Spleen
3	chr13:76124800-76167600	Weak transcription	Gastric	stomach
4	chr13:76124800-76170600	Weak transcription	Colonic Mucosa	Colon
5	chr13:76125000-76156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:76125000-76158000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
8	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
9	chr13:76125200-76173800	Weak transcription	Fetal Heart	heart
10	chr13:76125200-76177800	Weak transcription	Stomach Mucosa	stomach
11	chr13:76125400-76191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:76125600-76158000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:76125600-76182000	Weak transcription	Fetal Brain Male	brain
14	chr13:76129400-76158000	Weak transcription	Fetal Kidney	kidney
15	chr13:76129400-76180400	Weak transcription	Thymus	Thymus
16	chr13:76129600-76157800	Weak transcription	Fetal Brain Female	brain
17	chr13:76129600-76158000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:76129600-76158000	Weak transcription	Esophagus	oesophagus
19	chr13:76129600-76164000	Weak transcription	Ovary	ovary
20	chr13:76130400-76164200	Weak transcription	K562	blood
21	chr13:76133000-76158000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr13:76133200-76158000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr13:76135400-76164000	Weak transcription	Pancreas	Pancrea
24	chr13:76140200-76158200	Weak transcription	NHDF-Ad	bronchial
25	chr13:76141600-76158000	Weak transcription	A549	lung
26	chr13:76141800-76151800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:76141800-76178400	Weak transcription	HepG2	liver
28	chr13:76142200-76158600	Weak transcription	Fetal Lung	lung
29	chr13:76142200-76164000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr13:76143000-76151800	Strong transcription	HSMM	muscle
31	chr13:76143200-76151600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:76144000-76192400	Weak transcription	NHLF	lung
33	chr13:76144200-76151800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:76144200-76194400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:76144400-76176800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr13:76145400-76151800	Strong transcription	Fetal Thymus	thymus
37	chr13:76146800-76156200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr13:76147600-76158600	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:76147800-76158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:76148000-76152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr13:76148000-76152800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr13:76148000-76154400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr13:76148000-76155400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr13:76148000-76156000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:76148000-76157800	Weak transcription	Hela-S3	cervix
46	chr13:76148000-76158000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:76148000-76158000	Weak transcription	Aorta	Aorta
48	chr13:76148000-76158000	Weak transcription	Left Ventricle	heart
49	chr13:76148000-76158000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:76148000-76158000	Weak transcription	Rectal Mucosa Donor 31	rectum

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