Variant report

Variant	rs7855848
Chromosome Location	chr9:27153055-27153056
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10511799	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs10511804	0.90[CEU][hapmap]
rs12551877	0.90[CEU][hapmap]
rs12552280	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs12552985	1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs13285984	0.90[CEU][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap];0.85[YRI][hapmap]
rs13286156	0.81[AMR][1000 genomes]
rs13286157	0.81[AMR][1000 genomes]
rs13286517	0.82[AMR][1000 genomes]
rs13292708	0.82[AMR][1000 genomes]
rs17694837	0.95[CEU][hapmap];0.81[AMR][1000 genomes]
rs17695057	0.90[CEU][hapmap]
rs4242698	0.83[CEU][hapmap];0.90[GIH][hapmap]
rs716676	0.90[CEU][hapmap]
rs7852018	0.88[YRI][hapmap]
rs7853262	0.90[CEU][hapmap]
rs7862217	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv892863	chr9:27138898-27170934	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7855848	MOBKL2B	cis	parietal	SCAN
rs7855848	GIMAP4	cis	Temporal Cortex	GTEx
rs7855848	GIMAP8	cis	Temporal Cortex	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27147800-27155000	Weak transcription	Aorta	Aorta
2	chr9:27149600-27154600	Enhancers	HUVEC	blood vessel
3	chr9:27149600-27155400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:27150800-27153200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:27150800-27158000	Weak transcription	Spleen	Spleen
6	chr9:27151000-27153200	Enhancers	HSMMtube	muscle
7	chr9:27151000-27154600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:27151000-27154800	Weak transcription	Placenta	Placenta
9	chr9:27151000-27155800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:27151000-27158000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:27151000-27172800	Weak transcription	Left Ventricle	heart
12	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:27151200-27164800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:27151400-27154600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:27151800-27154200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:27151800-27154600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:27151800-27158000	Weak transcription	Lung	lung
18	chr9:27151800-27165000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:27152000-27155000	Weak transcription	Ovary	ovary
20	chr9:27152000-27174600	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:27152200-27165400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:27152400-27153600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:27152400-27153600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:27152400-27154600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:27152400-27154600	Weak transcription	NHLF	lung
26	chr9:27152400-27154800	Weak transcription	Fetal Stomach	stomach
27	chr9:27152400-27155000	Weak transcription	Fetal Lung	lung
28	chr9:27152400-27156600	Weak transcription	Hela-S3	cervix
29	chr9:27152400-27157800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:27152400-27181600	Weak transcription	Adipose Nuclei	Adipose
31	chr9:27152600-27153600	Weak transcription	HSMM	muscle
32	chr9:27152600-27154400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:27152600-27154400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:27152600-27154400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:27152600-27154400	Weak transcription	HMEC	breast
36	chr9:27152600-27154400	Weak transcription	NH-A	brain
37	chr9:27152600-27154400	Weak transcription	Osteobl	bone
38	chr9:27152600-27154600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:27152600-27154600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:27152600-27154600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:27152600-27154600	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:27152600-27154600	Weak transcription	Fetal Heart	heart
43	chr9:27152800-27154200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:27153000-27154400	Weak transcription	NHEK	skin

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