Variant report

Variant	rs916829
Chromosome Location	chr11:17440473-17440474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2237992	0.88[MKK][hapmap]
rs2355017	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs4148626	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148630	0.82[ASN][1000 genomes]
rs4148631	0.82[ASN][1000 genomes]
rs4148632	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
2	chr11:17428200-17450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:17435000-17442000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:17435000-17442200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:17435000-17443200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:17435200-17460600	Weak transcription	Right Atrium	heart
7	chr11:17437400-17445000	Weak transcription	Pancreas	Pancrea
8	chr11:17437600-17442600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:17437800-17448000	Enhancers	Dnd41	blood
10	chr11:17439400-17440600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr11:17440200-17441000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:17440200-17441000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:17440200-17441000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr11:17440400-17443400	Weak transcription	Fetal Thymus	thymus

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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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