Variant report

Variant	rs9749283
Chromosome Location	chr19:40817137-40817138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10405207	0.90[AMR][1000 genomes]
rs11668242	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11880261	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12609706	0.83[ASN][1000 genomes]
rs12974529	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12981110	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2304189	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3730050	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3730051	0.83[AMR][1000 genomes]
rs4239506	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4257318	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4277441	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4332845	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4337402	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4490099	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4499338	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4558508	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4802071	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4802073	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803320	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6508936	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7248338	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7249146	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7250897	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255581	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7257972	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7260106	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7260517	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs748236	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7508604	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8102171	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8104727	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8110888	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs969531	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[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	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
5	esv3386713	chr19:40794161-40828617	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
2	chr19:40792200-40821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:40792200-40821400	Weak transcription	Fetal Intestine Small	intestine
4	chr19:40793000-40821400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:40793000-40822000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:40793200-40820600	Weak transcription	HSMM	muscle
7	chr19:40793200-40820800	Weak transcription	Dnd41	blood
8	chr19:40793200-40822000	Weak transcription	Fetal Stomach	stomach
9	chr19:40793800-40821800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:40800400-40826400	Weak transcription	Brain Angular Gyrus	brain
11	chr19:40800800-40822000	Weak transcription	Brain Hippocampus Middle	brain
12	chr19:40802800-40828000	Weak transcription	NH-A	brain
13	chr19:40803000-40822000	Weak transcription	Lung	lung
14	chr19:40803800-40822000	Weak transcription	Primary T cells from cord blood	blood
15	chr19:40807600-40822200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:40808800-40822000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:40809000-40822000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:40810400-40820600	Weak transcription	K562	blood
19	chr19:40810600-40825800	Weak transcription	Adipose Nuclei	Adipose
20	chr19:40810600-40829800	Weak transcription	NHDF-Ad	bronchial
21	chr19:40810800-40826200	Weak transcription	HMEC	breast
22	chr19:40811200-40821800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:40811200-40821800	Weak transcription	Liver	Liver
24	chr19:40811200-40822200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:40811200-40822200	Weak transcription	Thymus	Thymus
26	chr19:40811200-40826000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:40811400-40826600	Weak transcription	NHEK	skin
28	chr19:40811600-40826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:40811800-40820600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:40811800-40822200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:40811800-40822200	Weak transcription	A549	lung
32	chr19:40811800-40826400	Weak transcription	Brain Substantia Nigra	brain
33	chr19:40811800-40826600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:40811800-40826600	Weak transcription	Fetal Lung	lung
35	chr19:40811800-40831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:40813200-40822000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:40814200-40821800	Weak transcription	Placenta	Placenta
38	chr19:40814600-40824400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:40815400-40832800	Weak transcription	Fetal Brain Male	brain
40	chr19:40815600-40826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:40815800-40824400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:40816000-40822000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:40816200-40820400	Weak transcription	Fetal Heart	heart
44	chr19:40816400-40824200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:40816600-40818400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:40817000-40818600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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