Variant report

Variant	rs73041817
Chromosome Location	chr19:36757055-36757056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12459247	0.82[AMR][1000 genomes]
rs12459248	0.84[AMR][1000 genomes]
rs12460466	0.82[AMR][1000 genomes]
rs12461077	0.83[AMR][1000 genomes]
rs12463157	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414272	0.83[AMR][1000 genomes]
rs28528757	0.82[AMR][1000 genomes]
rs4806293	0.86[AMR][1000 genomes]
rs4806295	0.90[AMR][1000 genomes]
rs4806303	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55697131	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58395495	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113146	0.91[AMR][1000 genomes]
rs62113148	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62113149	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62113151	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113152	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040107	0.86[AMR][1000 genomes]
rs73040113	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73040148	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113088	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1063208	chr19:36743461-36847486	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv961212	chr19:36744378-36801298	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv960831	chr19:36744378-36813769	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1056901	chr19:36749658-36847486	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv511620	chr19:36749804-36801902	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv579426	chr19:36749804-36802219	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv820362	chr19:36749963-36807301	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1061054	chr19:36751703-36847486	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1055260	chr19:36752221-36847486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1056850	chr19:36752663-36847486	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1064983	chr19:36752663-36847625	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1057579	chr19:36752663-36847822	Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73041817	CTD-3162L10.1	cis	Nerve Tibial	GTEx
rs73041817	LINC00665	cis	Skin Sun Exposed Lower leg	GTEx
rs73041817	LINC00665	cis	Nerve Tibial	GTEx
rs73041817	LINC00665	cis	Muscle Skeletal	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36748800-36762800	Weak transcription	Right Atrium	heart
2	chr19:36749200-36762800	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:36749200-36764800	Weak transcription	Brain Substantia Nigra	brain
4	chr19:36749400-36762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:36749400-36764200	Weak transcription	Brain Angular Gyrus	brain
6	chr19:36749600-36757400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:36749600-36762600	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:36749600-36763400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:36749800-36757600	Weak transcription	Brain Anterior Caudate	brain
10	chr19:36749800-36760000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:36756600-36758800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:36756800-36757800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:36756800-36757800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr19:36756800-36758200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:36756800-36758200	ZNF genes & repeats	Pancreas	Pancrea
16	chr19:36756800-36758400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:36757000-36757400	Active TSS	Psoas Muscle	Psoas
18	chr19:36757000-36757600	Active TSS	Right Ventricle	heart
19	chr19:36757000-36757800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr19:36757000-36758000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:36757000-36758000	Active TSS	Left Ventricle	heart
22	chr19:36757000-36758200	Active TSS	K562	blood
23	chr19:36757000-36758600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr19:36757000-36758800	ZNF genes & repeats	Gastric	stomach
25	chr19:36757000-36759200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:36757000-36759400	ZNF genes & repeats	Placenta	Placenta

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