Variant report

Variant	rs653578
Chromosome Location	chr11:64212852-64212853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10897503	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs12362958	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28680814	0.90[EUR][1000 genomes]
rs4930353	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs548333	0.82[CEU][hapmap];0.92[CHB][hapmap];0.80[CHD][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs562560	0.83[EUR][1000 genomes]
rs61884054	0.80[EUR][1000 genomes]
rs653565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7119252	0.89[ASN][1000 genomes]
rs72929971	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv555194	chr11:64189110-64238023	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs653578	RBM14	cis	parietal	SCAN
rs653578	SLC3A2	cis	cerebellum	SCAN
rs653578	DRAP1	cis	cerebellum	SCAN
rs653578	TMEM179B	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64208400-64215800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:64209800-64215400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:64209800-64215800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:64210000-64213000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:64210200-64215000	Weak transcription	Primary B cells from cord blood	blood
6	chr11:64210600-64216200	Weak transcription	Right Atrium	heart
7	chr11:64210800-64215200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:64211400-64215000	Weak transcription	Fetal Brain Female	brain
9	chr11:64211600-64215200	Weak transcription	Fetal Brain Male	brain
10	chr11:64211800-64215200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:64212000-64213000	Enhancers	Brain Hippocampus Middle	brain
12	chr11:64212400-64213200	Enhancers	GM12878-XiMat	blood
13	chr11:64212400-64213400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:64212600-64213000	Enhancers	Brain Substantia Nigra	brain
15	chr11:64212600-64213200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:64212600-64214400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:64212600-64215200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:64212800-64215200	Weak transcription	Placenta	Placenta
19	chr11:64212800-64216000	Weak transcription	Spleen	Spleen

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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