Variant report

Variant	rs2385373
Chromosome Location	chr19:37599189-37599190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10402907	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10403718	0.98[EUR][1000 genomes]
rs10403728	0.98[EUR][1000 genomes]
rs10403975	0.93[EUR][1000 genomes]
rs10406110	0.96[EUR][1000 genomes]
rs10408085	0.97[EUR][1000 genomes]
rs10408332	0.80[EUR][1000 genomes]
rs10408359	0.97[EUR][1000 genomes]
rs10413360	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10413385	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10413934	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10414520	0.95[EUR][1000 genomes]
rs10419643	0.99[EUR][1000 genomes]
rs10420330	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10421509	0.95[EUR][1000 genomes]
rs10853950	0.98[EUR][1000 genomes]
rs1095490	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11084874	0.98[EUR][1000 genomes]
rs11084875	0.97[EUR][1000 genomes]
rs11666786	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11672848	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11879644	0.99[EUR][1000 genomes]
rs11879645	0.99[EUR][1000 genomes]
rs11881645	0.95[EUR][1000 genomes]
rs12980849	0.90[EUR][1000 genomes]
rs12984458	0.99[EUR][1000 genomes]
rs1363753	0.81[EUR][1000 genomes]
rs1402468	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1644669	0.80[EUR][1000 genomes]
rs1667354	0.80[EUR][1000 genomes]
rs1667370	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1667371	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1667372	0.86[EUR][1000 genomes]
rs1667377	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1667378	0.91[EUR][1000 genomes]
rs1667379	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1667380	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17206540	0.95[EUR][1000 genomes]
rs1818748	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1829603	0.95[EUR][1000 genomes]
rs2082009	0.95[EUR][1000 genomes]
rs2082010	0.95[EUR][1000 genomes]
rs2090805	0.94[EUR][1000 genomes]
rs2118208	0.99[EUR][1000 genomes]
rs2118209	0.99[EUR][1000 genomes]
rs2263166	0.95[EUR][1000 genomes]
rs2385374	0.98[EUR][1000 genomes]
rs2385375	0.97[EUR][1000 genomes]
rs2551049	0.91[EUR][1000 genomes]
rs2562585	0.95[EUR][1000 genomes]
rs2562591	0.95[EUR][1000 genomes]
rs2562607	0.95[EUR][1000 genomes]
rs2595554	0.80[EUR][1000 genomes]
rs2595555	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28528332	0.99[EUR][1000 genomes]
rs2891754	0.96[EUR][1000 genomes]
rs2891766	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35162188	0.97[EUR][1000 genomes]
rs35524127	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35579954	0.99[EUR][1000 genomes]
rs35998183	0.99[EUR][1000 genomes]
rs36096221	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3902013	0.94[EUR][1000 genomes]
rs3929570	0.95[EUR][1000 genomes]
rs4117556	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4239587	0.99[EUR][1000 genomes]
rs4254428	0.97[EUR][1000 genomes]
rs4414605	0.96[EUR][1000 genomes]
rs4805199	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4805201	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4805202	0.99[EUR][1000 genomes]
rs4805203	0.99[EUR][1000 genomes]
rs4805204	0.99[EUR][1000 genomes]
rs4805205	0.99[EUR][1000 genomes]
rs4806407	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4806408	0.98[EUR][1000 genomes]
rs4806409	0.98[EUR][1000 genomes]
rs4806411	0.99[EUR][1000 genomes]
rs4806412	0.99[EUR][1000 genomes]
rs55825113	0.85[EUR][1000 genomes]
rs56154134	0.95[EUR][1000 genomes]
rs62108896	0.82[ASN][1000 genomes]
rs6510580	0.95[EUR][1000 genomes]
rs6510585	0.95[EUR][1000 genomes]
rs6510587	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6510588	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6510591	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6510592	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6510593	0.99[EUR][1000 genomes]
rs703527	0.81[ASN][1000 genomes]
rs703531	0.94[EUR][1000 genomes]
rs7245453	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7245520	0.95[EUR][1000 genomes]
rs7245882	0.98[EUR][1000 genomes]
rs7246022	0.99[EUR][1000 genomes]
rs7246720	0.95[EUR][1000 genomes]
rs7246739	0.95[EUR][1000 genomes]
rs7248132	0.98[EUR][1000 genomes]
rs7248948	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7250507	0.98[EUR][1000 genomes]
rs7253730	0.92[EUR][1000 genomes]
rs7254410	0.87[EUR][1000 genomes]
rs7255576	0.99[EUR][1000 genomes]
rs7255724	0.96[EUR][1000 genomes]
rs7256380	0.95[EUR][1000 genomes]
rs7257320	0.96[EUR][1000 genomes]
rs7257633	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7258360	0.99[EUR][1000 genomes]
rs7258650	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7259332	0.98[EUR][1000 genomes]
rs7259915	0.98[EUR][1000 genomes]
rs7260488	0.95[EUR][1000 genomes]
rs7260599	0.99[EUR][1000 genomes]
rs8099987	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8105065	0.99[EUR][1000 genomes]
rs8105621	0.99[EUR][1000 genomes]
rs8108429	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8108509	0.95[EUR][1000 genomes]
rs8109501	0.99[EUR][1000 genomes]
rs8110158	0.95[EUR][1000 genomes]
rs8110796	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8111285	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8113822	0.95[EUR][1000 genomes]
rs826324	0.95[EUR][1000 genomes]
rs826325	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826326	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826327	0.93[EUR][1000 genomes]
rs826328	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826329	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826330	0.86[EUR][1000 genomes]
rs826331	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[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	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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2385373	ZNF585B	cis	Artery Tibial	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37594600-37599200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:37594800-37603200	Weak transcription	HSMMtube	muscle
3	chr19:37594800-37604400	Weak transcription	HSMM	muscle
4	chr19:37596400-37600600	ZNF genes & repeats	Colon Smooth Muscle	Colon
5	chr19:37596600-37608000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37596800-37602000	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr19:37597000-37601200	ZNF genes & repeats	Fetal Lung	lung
8	chr19:37597200-37599200	ZNF genes & repeats	Thymus	Thymus
9	chr19:37597200-37600200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:37597200-37600400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:37597200-37600600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
12	chr19:37597200-37600600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr19:37597200-37600600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:37597200-37600600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:37597200-37600600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:37597200-37600600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
17	chr19:37597200-37600600	ZNF genes & repeats	Fetal Stomach	stomach
18	chr19:37597200-37600600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr19:37597200-37600800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:37597200-37600800	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr19:37597200-37600800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:37597200-37600800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr19:37597200-37601200	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:37597200-37601200	ZNF genes & repeats	Dnd41	blood
25	chr19:37597200-37601400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr19:37597200-37601400	ZNF genes & repeats	Fetal Brain Male	brain
27	chr19:37597200-37601400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
28	chr19:37597200-37601600	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr19:37597200-37601800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:37597200-37601800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr19:37597200-37601800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr19:37597200-37601800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr19:37597200-37602000	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr19:37597200-37607400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr19:37597200-37608000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:37597200-37608000	ZNF genes & repeats	Liver	Liver
37	chr19:37597200-37608000	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr19:37597200-37608000	ZNF genes & repeats	Ovary	ovary
39	chr19:37597200-37608200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr19:37597200-37608400	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr19:37597200-37608600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr19:37597200-37608800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:37597400-37599200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:37597400-37599200	ZNF genes & repeats	Placenta	Placenta
45	chr19:37597400-37599400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:37597400-37599400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr19:37597400-37599600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr19:37597400-37600200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
49	chr19:37597400-37600400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr19:37597400-37600400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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