Variant report

Variant	rs2992142
Chromosome Location	chr9:117996625-117996626
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10481680	0.95[CHB][hapmap];0.85[CHD][hapmap]
rs10817733	0.95[CHB][hapmap]
rs10817734	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs10817741	0.90[CHB][hapmap]
rs10982621	0.85[CHB][hapmap]
rs10982654	0.95[CHB][hapmap]
rs12338583	0.90[CHB][hapmap]
rs1556687	0.92[ASN][1000 genomes]
rs2183700	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2285314	0.81[CHB][hapmap]
rs2418327	0.81[CHB][hapmap]
rs2989508	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2989509	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2992144	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4112338	0.95[CHB][hapmap];0.85[CHD][hapmap]
rs4147051	0.95[CHB][hapmap];0.85[CHD][hapmap]
rs7846857	0.95[CHB][hapmap];0.85[CHD][hapmap]

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:32 , 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	chr9:117995400-117997400	Enhancers	HMEC	breast
4	chr9:117995400-117997800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:117995400-117997800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:117996000-117997200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:117996000-117997800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:117996000-117998200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:117996200-117996800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:117996200-117997000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:117996200-117997000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:117996200-117997000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:117996200-117997000	Enhancers	Fetal Muscle Leg	muscle
14	chr9:117996200-117997200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:117996200-117997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:117996200-117997200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:117996200-117997200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:117996200-117997200	Enhancers	NH-A	brain
19	chr9:117996200-117997200	Enhancers	NHLF	lung
20	chr9:117996200-117997200	Enhancers	Osteobl	bone
21	chr9:117996200-117997400	Enhancers	HSMM	muscle
22	chr9:117996200-117997600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:117996200-117997800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:117996200-117997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:117996200-117997800	Enhancers	NHDF-Ad	bronchial
26	chr9:117996400-117996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:117996400-117997000	Flanking Active TSS	A549	lung
28	chr9:117996400-118001800	Weak transcription	Esophagus	oesophagus
29	chr9:117996600-117996800	Flanking Active TSS	NHEK	skin
30	chr9:117996600-117997000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:117996600-117997000	Enhancers	Stomach Smooth Muscle	stomach
32	chr9:117996600-117997000	Flanking Active TSS	HSMMtube	muscle

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