Variant report

Variant	rs1819419
Chromosome Location	chr9:117873967-117873968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10982535	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1250021	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1250022	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1250027	0.94[EUR][1000 genomes]
rs1330355	0.91[EUR][1000 genomes]
rs1755646	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2183701	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2480932	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2480933	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3789867	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3789868	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4979493	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7031825	0.87[ASN][1000 genomes]
rs769331	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs881496	0.85[AMR][1000 genomes];0.94[EUR][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	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117849400-117876200	Weak transcription	Aorta	Aorta
2	chr9:117849400-117877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:117853400-117874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:117861600-117876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:117861800-117874800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:117862600-117877200	Weak transcription	Fetal Kidney	kidney
7	chr9:117862600-117877200	Weak transcription	Fetal Stomach	stomach
8	chr9:117866400-117875000	Enhancers	Rectal Smooth Muscle	rectum
9	chr9:117867400-117874000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:117869000-117876800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:117869000-117876800	Weak transcription	HSMM	muscle
12	chr9:117869200-117878400	Weak transcription	Fetal Lung	lung
13	chr9:117870200-117876000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:117870200-117876600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:117870400-117876600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:117870400-117876600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:117870400-117879000	Weak transcription	Esophagus	oesophagus
18	chr9:117870600-117874000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:117870800-117874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:117870800-117874000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:117870800-117875400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:117871200-117875000	Weak transcription	NHLF	lung
23	chr9:117872000-117876600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:117872200-117874000	Weak transcription	NHEK	skin
25	chr9:117872200-117874400	Weak transcription	NHDF-Ad	bronchial
26	chr9:117872200-117875000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:117872200-117876400	Weak transcription	HMEC	breast
28	chr9:117872400-117874200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:117872400-117874400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:117872800-117874000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:117872800-117874800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:117873000-117874400	Weak transcription	NH-A	brain
33	chr9:117873000-117875000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:117873400-117875200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:117873400-117875600	Strong transcription	Osteobl	bone
36	chr9:117873800-117875400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:117873800-117875400	Genic enhancers	Colon Smooth Muscle	Colon
38	chr9:117873800-117875800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:117873800-117876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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