Variant report

Variant	rs974373
Chromosome Location	chr13:76163796-76163797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76124076..76125593-chr13:76162284..76165016,2	K562	blood:
2	chr13:76160277..76161808-chr13:76162172..76164407,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12427755	0.87[ASN][1000 genomes]
rs12427931	0.87[ASN][1000 genomes]
rs12428989	0.87[ASN][1000 genomes]
rs1535724	0.93[ASN][1000 genomes]
rs2031236	0.95[ASN][1000 genomes]
rs2296146	0.90[ASN][1000 genomes]
rs2328959	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2328960	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2328963	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328964	0.90[ASN][1000 genomes]
rs2876706	0.93[ASN][1000 genomes]
rs3783028	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3818355	0.91[ASN][1000 genomes]
rs4611344	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4885318	0.90[ASN][1000 genomes]
rs4885322	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4885323	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4885324	0.95[ASN][1000 genomes]
rs55777620	0.94[ASN][1000 genomes]
rs55927305	0.88[ASN][1000 genomes]
rs6562912	0.81[AFR][1000 genomes]
rs6562913	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6562914	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6562915	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6562916	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6562918	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7139740	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7317250	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73223968	0.90[ASN][1000 genomes]
rs73223984	0.95[ASN][1000 genomes]
rs7324195	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7329512	0.89[ASN][1000 genomes]
rs7339146	0.95[ASN][1000 genomes]
rs7981698	0.87[ASN][1000 genomes]
rs7982517	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7986566	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7989568	0.94[ASN][1000 genomes]
rs7996884	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8192755	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8192756	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8192762	0.95[ASN][1000 genomes]
rs8192763	0.95[ASN][1000 genomes]
rs8192764	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9318361	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530447	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9543972	0.89[ASN][1000 genomes]
rs9543976	0.90[ASN][1000 genomes]
rs9543990	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9543992	0.95[ASN][1000 genomes]
rs9544004	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9565177	0.91[ASN][1000 genomes]
rs9573591	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9573592	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
rs974373	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	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
6	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
7	chr13:76125200-76173800	Weak transcription	Fetal Heart	heart
8	chr13:76125200-76177800	Weak transcription	Stomach Mucosa	stomach
9	chr13:76125400-76191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:76125600-76182000	Weak transcription	Fetal Brain Male	brain
11	chr13:76129400-76180400	Weak transcription	Thymus	Thymus
12	chr13:76129600-76164000	Weak transcription	Ovary	ovary
13	chr13:76130400-76164200	Weak transcription	K562	blood
14	chr13:76135400-76164000	Weak transcription	Pancreas	Pancrea
15	chr13:76141800-76178400	Weak transcription	HepG2	liver
16	chr13:76142200-76164000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:76144000-76192400	Weak transcription	NHLF	lung
18	chr13:76144200-76194400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:76144400-76176800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr13:76148000-76165200	Weak transcription	Brain Angular Gyrus	brain
21	chr13:76148000-76173800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:76148000-76174200	Weak transcription	HSMMtube	muscle
23	chr13:76148000-76178600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:76148200-76177200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr13:76148200-76192200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:76148200-76203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr13:76149000-76179000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:76149600-76164000	Weak transcription	Brain Anterior Caudate	brain
30	chr13:76149800-76164000	Weak transcription	Adipose Nuclei	Adipose
31	chr13:76149800-76164000	Weak transcription	HMEC	breast
32	chr13:76149800-76165800	Weak transcription	Brain Germinal Matrix	brain
33	chr13:76149800-76172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:76149800-76174200	Weak transcription	Psoas Muscle	Psoas
35	chr13:76149800-76180200	Weak transcription	NH-A	brain
36	chr13:76149800-76209600	Weak transcription	Lung	lung
37	chr13:76156400-76164000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr13:76156400-76164000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr13:76156800-76174000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr13:76158200-76164000	Weak transcription	Fetal Stomach	stomach
41	chr13:76158400-76164000	Weak transcription	Aorta	Aorta
42	chr13:76158400-76164400	Weak transcription	Placenta	Placenta
43	chr13:76158400-76192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:76158600-76164000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:76158600-76164000	Weak transcription	Esophagus	oesophagus
46	chr13:76158600-76164200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr13:76158600-76177200	Weak transcription	Left Ventricle	heart
48	chr13:76158600-76182400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr13:76158600-76191400	Weak transcription	Fetal Intestine Small	intestine
50	chr13:76158600-76195200	Weak transcription	NHEK	skin

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