Variant report

Variant	rs1883099
Chromosome Location	chr11:9063570-9063571
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	chr11:9062855..9067296-chr11:9070515..9073195,4	K562	blood:
2	chr11:9060449..9064388-chr11:9064769..9066551,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10734641	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10743098	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10840161	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11042158	0.84[ASN][1000 genomes]
rs7109896	0.87[MEX][hapmap]
rs7124472	0.94[ASN][1000 genomes]
rs932287	0.83[MEX][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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1883099	TMEM9B	cis	cerebellum	SCAN
rs1883099	NRIP3	cis	parietal	SCAN
rs1883099	TMEM9B	cis	parietal	SCAN
rs1883099	ZBTB2	trans	parietal	SCAN
rs1883099	RPL27A	cis	parietal	SCAN
rs1883099	RBMXL2	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9038200-9064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:9047200-9068600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:9052400-9067800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:9052800-9069800	Weak transcription	Gastric	stomach
5	chr11:9058400-9099800	Weak transcription	Aorta	Aorta
6	chr11:9059200-9074000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:9059400-9063800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:9059600-9068000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:9060000-9068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:9060400-9066400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:9062000-9068400	Weak transcription	Adipose Nuclei	Adipose
12	chr11:9062200-9068000	Weak transcription	Pancreas	Pancrea
13	chr11:9062600-9063600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:9062800-9063600	Enhancers	Stomach Smooth Muscle	stomach
15	chr11:9063000-9063800	Genic enhancers	Fetal Stomach	stomach
16	chr11:9063000-9064600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:9063000-9064800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:9063000-9065000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:9063400-9063600	Enhancers	Brain Hippocampus Middle	brain
20	chr11:9063400-9063600	Genic enhancers	Fetal Lung	lung
21	chr11:9063400-9063600	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:9063400-9063600	Enhancers	Placenta	Placenta
23	chr11:9063400-9063600	Enhancers	Rectal Smooth Muscle	rectum

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