Variant report

Variant	rs1027586
Chromosome Location	chr19:21657656-21657657
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]
rs1027587	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	0.93[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	0.93[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21657000-21657800	Active TSS	Psoas Muscle	Psoas
2	chr19:21657000-21658000	Active TSS	Colon Smooth Muscle	Colon
3	chr19:21657000-21658200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr19:21657000-21658400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr19:21657000-21658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:21657000-21659000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:21657200-21657800	Active TSS	Primary T cells from cord blood	blood
8	chr19:21657200-21657800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr19:21657200-21657800	Active TSS	Ovary	ovary
10	chr19:21657200-21657800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr19:21657200-21658000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
12	chr19:21657200-21658200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:21657200-21658200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:21657200-21658200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr19:21657200-21658200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr19:21657200-21658200	Active TSS	Brain Substantia Nigra	brain
17	chr19:21657200-21658200	Active TSS	Fetal Kidney	kidney
18	chr19:21657200-21658200	Active TSS	Right Atrium	heart
19	chr19:21657200-21658200	Active TSS	Right Ventricle	heart
20	chr19:21657200-21658400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:21657200-21658400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:21657200-21658400	Active TSS	Brain Angular Gyrus	brain
23	chr19:21657200-21658400	Active TSS	Fetal Intestine Small	intestine
24	chr19:21657200-21658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:21657200-21658800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:21657200-21658800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:21657200-21659000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr19:21657200-21659200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr19:21657400-21657800	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:21657400-21657800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr19:21657400-21657800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:21657400-21657800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr19:21657400-21657800	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr19:21657400-21657800	Flanking Active TSS	Fetal Brain Male	brain
35	chr19:21657400-21657800	Active TSS	Fetal Muscle Trunk	muscle
36	chr19:21657400-21657800	Active TSS	Rectal Smooth Muscle	rectum
37	chr19:21657400-21657800	Active TSS	HSMMtube	muscle
38	chr19:21657400-21658000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr19:21657400-21658000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:21657400-21658000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:21657400-21658000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:21657400-21658000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:21657400-21658000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr19:21657400-21658000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:21657400-21658000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:21657400-21658000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:21657400-21658000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:21657400-21658000	Active TSS	Aorta	Aorta
49	chr19:21657400-21658000	ZNF genes & repeats	Liver	Liver
50	chr19:21657400-21658000	ZNF genes & repeats	Esophagus	oesophagus

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