Variant report

Variant	rs2356230
Chromosome Location	chr19:40760561-40760562
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11665880	0.81[EUR][1000 genomes]
rs11666690	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11667443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11668006	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11668520	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11669006	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11669332	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11670323	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11670860	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11670912	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11671439	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17846842	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28746190	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35090721	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36058450	0.90[ASN][1000 genomes]
rs3730052	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3730055	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3730262	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs41275746	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41275748	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41275750	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45497695	0.87[EUR][1000 genomes]
rs56672337	0.87[EUR][1000 genomes]
rs58094119	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59058760	0.87[EUR][1000 genomes]
rs59106111	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6508937	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66623822	0.87[EUR][1000 genomes]
rs67587726	0.87[EUR][1000 genomes]
rs7245751	0.82[EUR][1000 genomes]
rs7247515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7252506	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933218	0.90[ASN][1000 genomes]
rs73933225	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73933232	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933237	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933238	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933240	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73933241	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8105478	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs873143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs874269	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr19:40741600-40761000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:40743200-40760800	Weak transcription	HMEC	breast
4	chr19:40745800-40760800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:40746400-40760800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:40747200-40760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:40748400-40761000	Weak transcription	Small Intestine	intestine
8	chr19:40748800-40760800	Weak transcription	NH-A	brain
9	chr19:40750000-40763800	Strong transcription	Thymus	Thymus
10	chr19:40750000-40764000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr19:40751000-40761800	Weak transcription	Fetal Kidney	kidney
12	chr19:40751200-40761600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:40751200-40771200	Weak transcription	Fetal Heart	heart
14	chr19:40751800-40763600	Strong transcription	Fetal Stomach	stomach
15	chr19:40752600-40763400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:40752800-40763400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:40753000-40772000	Weak transcription	Fetal Brain Male	brain
18	chr19:40753200-40762800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr19:40753200-40763000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:40753200-40763600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr19:40753200-40763800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr19:40753200-40764600	Strong transcription	Primary T cells from cord blood	blood
23	chr19:40753600-40763400	Strong transcription	Fetal Thymus	thymus
24	chr19:40753600-40763800	Strong transcription	Dnd41	blood
25	chr19:40753800-40763400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:40753800-40763800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:40753800-40764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:40754000-40763000	Strong transcription	Brain Germinal Matrix	brain
29	chr19:40754200-40760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:40755000-40763200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:40755000-40763800	Strong transcription	Placenta	Placenta
32	chr19:40755200-40763600	Strong transcription	GM12878-XiMat	blood
33	chr19:40755400-40763600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:40755600-40760800	Weak transcription	Colonic Mucosa	Colon
35	chr19:40755600-40762400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:40755600-40763000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:40755600-40764600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:40755800-40763000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:40755800-40763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:40756000-40761800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:40756000-40762600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr19:40756000-40762800	Strong transcription	Spleen	Spleen
43	chr19:40756000-40763000	Strong transcription	Brain Angular Gyrus	brain
44	chr19:40756000-40763200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:40756000-40763600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:40756200-40763000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr19:40756400-40763200	Strong transcription	Fetal Brain Female	brain
48	chr19:40756800-40763400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr19:40757000-40763400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr19:40757200-40763000	Strong transcription	Brain Cingulate Gyrus	brain

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