Variant report

Variant	rs1414152
Chromosome Location	chr9:117973181-117973182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10817725	0.92[ASN][1000 genomes]
rs10982611	0.93[ASN][1000 genomes]
rs1335352	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335357	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335358	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1889651	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147050	0.93[ASN][1000 genomes]
rs7871382	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	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
2	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
3	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
4	nsv893769	chr9:117936903-117985886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117960800-117975800	Weak transcription	Fetal Kidney	kidney
2	chr9:117963000-117977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:117966000-117973800	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:117966200-117973600	Weak transcription	Fetal Stomach	stomach
5	chr9:117967800-117979400	Weak transcription	Aorta	Aorta
6	chr9:117969000-117975400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:117969000-117976800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:117969200-117975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:117969400-117974600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:117969400-117976000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:117969600-117973800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:117969600-117973800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:117969600-117973800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:117969600-117973800	Weak transcription	Placenta	Placenta
15	chr9:117969800-117973800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:117969800-117973800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:117970000-117973800	Enhancers	GM12878-XiMat	blood
18	chr9:117970800-117973600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr9:117970800-117973800	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:117971000-117973800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:117971400-117973800	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:117971600-117973600	Weak transcription	Fetal Lung	lung
23	chr9:117972000-117973200	Enhancers	Liver	Liver
24	chr9:117972200-117973600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:117972200-117973600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:117972200-117973600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:117972200-117973600	Weak transcription	HSMM	muscle
28	chr9:117972200-117973800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:117972200-117973800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:117972200-117973800	Weak transcription	Gastric	stomach
31	chr9:117972400-117973200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:117972400-117973600	Weak transcription	NHLF	lung
33	chr9:117972400-117973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:117972400-117973800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:117972400-117974000	Weak transcription	HMEC	breast
36	chr9:117972400-117976400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:117972600-117973600	Weak transcription	Osteobl	bone
38	chr9:117972600-117973800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:117972600-117973800	Weak transcription	Fetal Intestine Small	intestine
40	chr9:117972600-117975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:117972600-117975600	Weak transcription	NHEK	skin
42	chr9:117972800-117973800	Weak transcription	NH-A	brain
43	chr9:117972800-117974000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:117973000-117975600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:117973000-117976600	Enhancers	NHDF-Ad	bronchial

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