Variant report

Variant	rs1991460
Chromosome Location	chr19:40833069-40833070
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40827061..40829040-chr19:40831125..40833432,2	K562	blood:

Variant related genes	Relation type
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11083554	0.82[ASN][1000 genomes]
rs12151335	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12459567	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12460555	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12460615	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12977474	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12985477	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1962639	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2368575	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35562135	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3745195	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4479364	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4490097	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4502340	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4524046	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802072	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802076	0.83[ASN][1000 genomes]
rs4803324	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803325	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803326	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803327	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803328	0.83[ASN][1000 genomes]
rs55710016	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57158010	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58502633	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59263025	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7259273	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73046335	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7507651	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7508513	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8110323	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs890773	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40819200-40834000	Weak transcription	Fetal Kidney	kidney
2	chr19:40820800-40848400	Strong transcription	Dnd41	blood
3	chr19:40821400-40835000	Strong transcription	Fetal Intestine Small	intestine
4	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:40822000-40833400	Weak transcription	Fetal Heart	heart
6	chr19:40822000-40842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:40822000-40843400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
9	chr19:40822200-40842400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:40822200-40842600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:40822200-40843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:40822200-40845400	Strong transcription	Fetal Muscle Leg	muscle
13	chr19:40822400-40846200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr19:40823400-40842400	Strong transcription	Fetal Brain Female	brain
15	chr19:40823400-40845400	Strong transcription	Thymus	Thymus
16	chr19:40824000-40839400	Strong transcription	NHLF	lung
17	chr19:40824000-40842200	Strong transcription	Liver	Liver
18	chr19:40824000-40842400	Strong transcription	Brain Germinal Matrix	brain
19	chr19:40824000-40842600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:40824200-40846400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr19:40824400-40843000	Strong transcription	Fetal Thymus	thymus
24	chr19:40825200-40836800	Weak transcription	Stomach Mucosa	stomach
25	chr19:40825200-40842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:40825400-40842600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr19:40825600-40835000	Strong transcription	Lung	lung
28	chr19:40825600-40835600	Strong transcription	Brain Cingulate Gyrus	brain
29	chr19:40825600-40842200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:40825600-40842400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:40825800-40833400	Weak transcription	Psoas Muscle	Psoas
32	chr19:40825800-40835000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr19:40825800-40837400	Strong transcription	Colonic Mucosa	Colon
34	chr19:40825800-40838600	Strong transcription	Brain Hippocampus Middle	brain
35	chr19:40825800-40841600	Strong transcription	Right Ventricle	heart
36	chr19:40825800-40842200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr19:40825800-40842200	Strong transcription	Adipose Nuclei	Adipose
38	chr19:40825800-40842400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:40825800-40842400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:40825800-40842400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:40825800-40842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:40825800-40842600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr19:40825800-40845400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr19:40826000-40835000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:40826000-40840200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr19:40826000-40840600	Strong transcription	HSMMtube	muscle
47	chr19:40826000-40842200	Strong transcription	Gastric	stomach
48	chr19:40826000-40842400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:40826000-40842400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr19:40826000-40842400	Strong transcription	Fetal Intestine Large	intestine

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