Variant report

Variant	rs1027587
Chromosome Location	chr19:21658045-21658046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1027585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1027586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10403785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10405812	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10420451	0.82[AFR][1000 genomes]
rs1963611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1983017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1983018	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1983019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2009347	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2013529	0.81[YRI][hapmap]
rs2088760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2090708	1.00[AMR][1000 genomes]
rs2090709	1.00[AMR][1000 genomes]
rs2255010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2255100	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562431	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs2562463	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562476	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562477	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562478	0.87[AFR][1000 genomes]
rs2562479	0.89[ASW][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562480	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562481	0.83[AFR][1000 genomes]
rs2562482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562485	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562486	0.89[ASW][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562488	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562489	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562490	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562494	1.00[AMR][1000 genomes]
rs2562503	1.00[AMR][1000 genomes]
rs2650796	0.82[AFR][1000 genomes]
rs2650815	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650818	0.82[AFR][1000 genomes]
rs2650820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650822	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650823	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2681397	1.00[AMR][1000 genomes]
rs28580140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2914653	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2968068	1.00[AMR][1000 genomes]
rs2968077	0.82[AFR][1000 genomes]
rs987772	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv961284	chr19:21636687-21659271	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21657000-21658200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr19:21657000-21658400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr19:21657000-21658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:21657000-21659000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:21657200-21658200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:21657200-21658200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:21657200-21658200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr19:21657200-21658200	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr19:21657200-21658200	Active TSS	Brain Substantia Nigra	brain
10	chr19:21657200-21658200	Active TSS	Fetal Kidney	kidney
11	chr19:21657200-21658200	Active TSS	Right Atrium	heart
12	chr19:21657200-21658200	Active TSS	Right Ventricle	heart
13	chr19:21657200-21658400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:21657200-21658400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:21657200-21658400	Active TSS	Brain Angular Gyrus	brain
16	chr19:21657200-21658400	Active TSS	Fetal Intestine Small	intestine
17	chr19:21657200-21658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:21657200-21658800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr19:21657200-21658800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:21657200-21659000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:21657200-21659200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:21657400-21658200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:21657400-21658200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:21657400-21658200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:21657400-21658200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr19:21657400-21658200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr19:21657400-21658200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr19:21657400-21658200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr19:21657400-21658200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:21657400-21658200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:21657400-21658200	Active TSS	Brain Cingulate Gyrus	brain
32	chr19:21657400-21658200	ZNF genes & repeats	Colonic Mucosa	Colon
33	chr19:21657400-21658200	Active TSS	Duodenum Mucosa	Duodenum
34	chr19:21657400-21658200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr19:21657400-21658200	Flanking Active TSS	Placenta	Placenta
36	chr19:21657400-21658200	Active TSS	Left Ventricle	heart
37	chr19:21657400-21658200	Active TSS	Pancreas	Pancrea
38	chr19:21657400-21658200	ZNF genes & repeats	Spleen	Spleen
39	chr19:21657400-21658200	ZNF genes & repeats	HSMM	muscle
40	chr19:21657400-21658200	Active TSS	NHLF	lung
41	chr19:21657400-21658200	Active TSS	Osteobl	bone
42	chr19:21657400-21658400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:21657400-21658400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:21657400-21658400	Active TSS	Fetal Brain Female	brain
45	chr19:21657400-21659000	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr19:21657600-21658200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr19:21657600-21658200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:21657600-21658200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:21657600-21658200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:21657600-21658200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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