Variant report

Variant	rs4452883
Chromosome Location	chr9:117779574-117779575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117779444..117782245-chr9:117782697..117785419,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10817700	0.85[ASN][1000 genomes]
rs10817701	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982497	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10982503	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10982504	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10982509	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs11788513	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11792749	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs12343737	0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs12344929	0.85[YRI][hapmap]
rs12346540	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12347433	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12348090	0.90[JPT][hapmap];0.82[YRI][hapmap]
rs12349585	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12351083	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13286217	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1411453	0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs1411455	0.90[JPT][hapmap];0.85[YRI][hapmap]
rs2274835	0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs2297179	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs2297181	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs34690752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789871	0.90[JPT][hapmap];0.82[YRI][hapmap]
rs3789875	0.91[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7859478	0.80[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117771200-117783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:117771400-117784600	Weak transcription	HMEC	breast
3	chr9:117773400-117803200	Weak transcription	Esophagus	oesophagus
4	chr9:117773600-117787200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:117774400-117780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:117774800-117783200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:117775000-117782200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:117775600-117780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:117776400-117784400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:117776400-117786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:117776800-117791600	Weak transcription	Fetal Lung	lung
12	chr9:117777000-117780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:117777000-117783200	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:117777400-117780000	Weak transcription	Osteobl	bone
15	chr9:117777400-117780600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:117777600-117782200	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:117777800-117780200	Weak transcription	NHDF-Ad	bronchial
18	chr9:117777800-117780600	Enhancers	Stomach Smooth Muscle	stomach
19	chr9:117778000-117783200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:117778400-117782200	Enhancers	Colon Smooth Muscle	Colon
21	chr9:117778600-117779800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr9:117778600-117781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:117778800-117783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:117779000-117780200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:117779000-117780200	Weak transcription	NHLF	lung
26	chr9:117779000-117780400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:117779000-117783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:117779200-117780400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:117779200-117782600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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