Variant report

Variant	rs2595554
Chromosome Location	chr19:37490962-37490963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:196)

rs_ID	r²[population]
rs1016216	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10402907	0.80[EUR][1000 genomes]
rs10403728	0.81[EUR][1000 genomes]
rs10403975	0.82[EUR][1000 genomes]
rs10413322	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10413385	0.82[EUR][1000 genomes]
rs10414520	0.85[EUR][1000 genomes]
rs10419643	0.80[EUR][1000 genomes]
rs10420330	0.83[EUR][1000 genomes]
rs10421398	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10421415	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10421509	0.85[EUR][1000 genomes]
rs10853950	0.81[EUR][1000 genomes]
rs1095490	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11084874	0.81[EUR][1000 genomes]
rs11666786	0.80[EUR][1000 genomes]
rs11879644	0.80[EUR][1000 genomes]
rs11879645	0.80[EUR][1000 genomes]
rs11881645	0.85[EUR][1000 genomes]
rs12984458	0.80[EUR][1000 genomes]
rs1345748	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1363752	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1375476	0.80[EUR][1000 genomes]
rs1375477	0.80[EUR][1000 genomes]
rs1402468	0.82[EUR][1000 genomes]
rs1449200	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1449201	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1579314	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1612652	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1621329	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1623796	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1625963	0.80[EUR][1000 genomes]
rs1644652	0.81[EUR][1000 genomes]
rs1644654	0.80[EUR][1000 genomes]
rs1644656	0.81[EUR][1000 genomes]
rs1644657	0.81[EUR][1000 genomes]
rs1644658	0.81[EUR][1000 genomes]
rs1644661	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1644663	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644665	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644666	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644667	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644668	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644670	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644671	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1644672	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1644673	0.87[AFR][1000 genomes]
rs1644674	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644675	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644676	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644677	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644678	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644679	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644682	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644683	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644684	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644685	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644686	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644687	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644688	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644689	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644690	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644691	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1644693	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644695	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644698	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644699	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1644700	0.82[EUR][1000 genomes]
rs1667336	0.80[EUR][1000 genomes]
rs1667337	0.81[EUR][1000 genomes]
rs1667342	0.81[EUR][1000 genomes]
rs1667344	0.81[EUR][1000 genomes]
rs1667346	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1667347	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667348	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1667349	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667350	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667352	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1667353	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667355	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667356	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667358	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667360	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667363	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667364	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667366	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1667367	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1667368	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1667370	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1667371	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1667372	0.87[EUR][1000 genomes]
rs1667377	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1667378	0.89[EUR][1000 genomes]
rs1667379	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1667380	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17206540	0.85[EUR][1000 genomes]
rs1818748	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1829603	0.85[EUR][1000 genomes]
rs2082009	0.85[EUR][1000 genomes]
rs2082010	0.85[EUR][1000 genomes]
rs2118208	0.80[EUR][1000 genomes]
rs2118209	0.80[EUR][1000 genomes]
rs2263166	0.85[EUR][1000 genomes]
rs2385373	0.80[EUR][1000 genomes]
rs2385374	0.81[EUR][1000 genomes]
rs2385375	0.82[EUR][1000 genomes]
rs2432651	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2547044	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2547045	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2547049	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2547050	0.81[EUR][1000 genomes]
rs2547051	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2547052	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2551049	0.86[EUR][1000 genomes]
rs2551053	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2551054	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2551057	0.82[AFR][1000 genomes]
rs2551060	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2562585	0.85[EUR][1000 genomes]
rs2562591	0.85[EUR][1000 genomes]
rs2562607	0.85[EUR][1000 genomes]
rs2595545	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2595546	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2595547	0.81[EUR][1000 genomes]
rs2595555	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28528332	0.80[EUR][1000 genomes]
rs2891754	0.82[EUR][1000 genomes]
rs2891766	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35162188	0.82[EUR][1000 genomes]
rs35524127	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35579954	0.80[EUR][1000 genomes]
rs35998183	0.80[EUR][1000 genomes]
rs36096221	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3902013	0.86[EUR][1000 genomes]
rs3929570	0.84[EUR][1000 genomes]
rs4239587	0.80[EUR][1000 genomes]
rs4254428	0.81[EUR][1000 genomes]
rs4805199	0.80[EUR][1000 genomes]
rs4805201	0.82[EUR][1000 genomes]
rs4805202	0.80[EUR][1000 genomes]
rs4805203	0.80[EUR][1000 genomes]
rs4805204	0.80[EUR][1000 genomes]
rs4805205	0.80[EUR][1000 genomes]
rs4806407	0.81[EUR][1000 genomes]
rs4806408	0.81[EUR][1000 genomes]
rs4806409	0.81[EUR][1000 genomes]
rs4806411	0.80[EUR][1000 genomes]
rs4806412	0.80[EUR][1000 genomes]
rs5008750	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs5008751	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs56154134	0.85[EUR][1000 genomes]
rs6510580	0.85[EUR][1000 genomes]
rs6510585	0.85[EUR][1000 genomes]
rs6510591	0.80[EUR][1000 genomes]
rs6510592	0.80[EUR][1000 genomes]
rs6510593	0.80[EUR][1000 genomes]
rs703527	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs703531	0.86[EUR][1000 genomes]
rs7245453	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7245520	0.85[EUR][1000 genomes]
rs7245882	0.81[EUR][1000 genomes]
rs7246022	0.80[EUR][1000 genomes]
rs7246720	0.84[EUR][1000 genomes]
rs7246739	0.85[EUR][1000 genomes]
rs7248948	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7250507	0.81[EUR][1000 genomes]
rs7253220	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7255576	0.80[EUR][1000 genomes]
rs7256380	0.85[EUR][1000 genomes]
rs7257320	0.83[EUR][1000 genomes]
rs7257633	0.80[EUR][1000 genomes]
rs7258360	0.80[EUR][1000 genomes]
rs7258650	0.84[EUR][1000 genomes]
rs7259332	0.81[EUR][1000 genomes]
rs7260488	0.85[EUR][1000 genomes]
rs7260599	0.80[EUR][1000 genomes]
rs8099987	0.80[EUR][1000 genomes]
rs8105065	0.80[EUR][1000 genomes]
rs8105621	0.80[EUR][1000 genomes]
rs8108429	0.82[EUR][1000 genomes]
rs8108509	0.85[EUR][1000 genomes]
rs8109501	0.80[EUR][1000 genomes]
rs8110158	0.85[EUR][1000 genomes]
rs8110796	0.80[EUR][1000 genomes]
rs8111285	0.80[EUR][1000 genomes]
rs8113822	0.85[EUR][1000 genomes]
rs826324	0.85[EUR][1000 genomes]
rs826325	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826326	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826327	0.87[EUR][1000 genomes]
rs826328	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826329	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs826330	0.83[EUR][1000 genomes]
rs826331	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs935706	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs935707	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking 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	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
14	nsv911653	chr19:37482151-37556673	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2595554	ZNF585B	cis	Artery Tibial	GTEx
rs2595554	AC012309.5	cis	Thyroid	GTEx
rs2595554	LINC00665	cis	Thyroid	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37488200-37498200	Weak transcription	Fetal Heart	heart
2	chr19:37488400-37498000	Weak transcription	Placenta	Placenta
3	chr19:37488600-37491000	Weak transcription	Pancreas	Pancrea
4	chr19:37488600-37491200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:37488600-37491600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr19:37488600-37493000	Weak transcription	Left Ventricle	heart
7	chr19:37488600-37495200	Weak transcription	Right Ventricle	heart
8	chr19:37488600-37498200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:37488600-37498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr19:37488600-37498400	Weak transcription	Brain Germinal Matrix	brain
11	chr19:37488600-37498400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:37488800-37491600	Weak transcription	Fetal Brain Male	brain
13	chr19:37488800-37492000	Weak transcription	Fetal Lung	lung
14	chr19:37489000-37491000	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:37489000-37491600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:37489000-37491600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:37489000-37491800	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:37489000-37493600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:37489000-37497800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:37489000-37498200	Weak transcription	Brain Angular Gyrus	brain
21	chr19:37489000-37498200	Weak transcription	Brain Substantia Nigra	brain
22	chr19:37489000-37498200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:37489200-37492000	Weak transcription	Fetal Muscle Leg	muscle
24	chr19:37489200-37495000	Weak transcription	Fetal Brain Female	brain

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