Variant report

Variant	rs10420842
Chromosome Location	chr19:40846385-40846386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10408356	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10415181	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10416620	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10418932	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10419465	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422343	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10423896	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12151243	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16974157	0.91[EUR][1000 genomes]
rs2163840	0.86[ASN][1000 genomes]
rs2304188	0.80[ASN][1000 genomes]
rs28362958	0.80[ASN][1000 genomes]
rs28667591	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34716810	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55862427	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57804337	0.85[ASN][1000 genomes]
rs57885763	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58336440	0.91[EUR][1000 genomes]
rs58613082	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59010363	0.91[EUR][1000 genomes]
rs60869669	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61685259	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62107590	0.91[EUR][1000 genomes]
rs62107593	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62107594	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62107630	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62107631	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247916	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7248012	0.86[ASN][1000 genomes]
rs7248861	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7254617	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8100207	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8111619	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8112998	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs892118	0.91[EUR][1000 genomes]
rs892119	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs892120	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9304588	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9304589	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40820800-40848400	Strong transcription	Dnd41	blood
2	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
3	chr19:40824200-40846400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr19:40826400-40847400	Weak transcription	Right Atrium	heart
7	chr19:40826600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:40832200-40852800	Weak transcription	NHDF-Ad	bronchial
9	chr19:40834400-40853400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:40834800-40853600	Weak transcription	Small Intestine	intestine
11	chr19:40836000-40853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:40837200-40848400	Weak transcription	Psoas Muscle	Psoas
13	chr19:40837400-40847600	Weak transcription	Colonic Mucosa	Colon
14	chr19:40837400-40853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:40837400-40853600	Weak transcription	Stomach Mucosa	stomach
16	chr19:40837600-40847400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:40837800-40846600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:40839800-40852800	Weak transcription	Hela-S3	cervix
19	chr19:40839800-40853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:40840000-40847400	Weak transcription	HMEC	breast
21	chr19:40840000-40852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:40840000-40852800	Weak transcription	HUVEC	blood vessel
23	chr19:40840000-40853400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr19:40840000-40853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:40840200-40850400	Weak transcription	Osteobl	bone
26	chr19:40840200-40852800	Weak transcription	HepG2	liver
27	chr19:40840400-40850800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:40840400-40852800	Weak transcription	Fetal Kidney	kidney
29	chr19:40840400-40853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:40840400-40853000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:40840400-40853000	Weak transcription	Fetal Brain Male	brain
32	chr19:40840400-40853400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:40841400-40853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:40841600-40847000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:40842000-40847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:40842200-40847400	Weak transcription	Brain Angular Gyrus	brain
37	chr19:40842200-40847400	Weak transcription	Colon Smooth Muscle	Colon
38	chr19:40842200-40848600	Weak transcription	Gastric	stomach
39	chr19:40842200-40852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:40842200-40853200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:40842200-40853600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:40842200-40853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:40842400-40847200	Weak transcription	NHEK	skin
44	chr19:40842400-40847400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:40842400-40847400	Weak transcription	Brain Anterior Caudate	brain
46	chr19:40842400-40847400	Weak transcription	Brain Germinal Matrix	brain
47	chr19:40842400-40847400	Weak transcription	Fetal Brain Female	brain
48	chr19:40842400-40847400	Weak transcription	Lung	lung
49	chr19:40842400-40848800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:40842400-40849000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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