Variant report

Variant	rs2989505
Chromosome Location	chr9:117996224-117996225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16932390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs58073362	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62578006	1.00[ASN][1000 genomes]
rs62578008	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62578021	0.94[EUR][1000 genomes]
rs62578022	0.94[EUR][1000 genomes]
rs62578024	0.87[EUR][1000 genomes]
rs62578032	0.86[EUR][1000 genomes]
rs7034885	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72762380	0.86[EUR][1000 genomes]
rs72764241	0.85[EUR][1000 genomes]
rs7853844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[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	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	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv6682	chr9:117984059-118000427	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117985000-118000600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:117988800-117997600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:117994000-117996600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:117995400-117996400	Enhancers	Esophagus	oesophagus
5	chr9:117995400-117997400	Enhancers	HMEC	breast
6	chr9:117995400-117997800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:117995400-117997800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:117996000-117996400	Enhancers	A549	lung
9	chr9:117996000-117997200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:117996000-117997800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:117996000-117998200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:117996200-117996400	Flanking Active TSS	NHEK	skin
13	chr9:117996200-117996600	Enhancers	HSMMtube	muscle
14	chr9:117996200-117996800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr9:117996200-117997000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:117996200-117997000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:117996200-117997000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:117996200-117997000	Enhancers	Fetal Muscle Leg	muscle
19	chr9:117996200-117997200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:117996200-117997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:117996200-117997200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:117996200-117997200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr9:117996200-117997200	Enhancers	NH-A	brain
24	chr9:117996200-117997200	Enhancers	NHLF	lung
25	chr9:117996200-117997200	Enhancers	Osteobl	bone
26	chr9:117996200-117997400	Enhancers	HSMM	muscle
27	chr9:117996200-117997600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:117996200-117997800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:117996200-117997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:117996200-117997800	Enhancers	NHDF-Ad	bronchial

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