Variant report

Variant	rs11217930
Chromosome Location	chr11:120500614-120500615
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11217931	1.00[ASN][1000 genomes]
rs11217932	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12273088	0.89[ASN][1000 genomes]
rs1317912	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120484800-120507400	Weak transcription	Right Atrium	heart
2	chr11:120494000-120504600	Weak transcription	Fetal Lung	lung
3	chr11:120498200-120502600	Weak transcription	Fetal Intestine Small	intestine
4	chr11:120498600-120504600	Weak transcription	Spleen	Spleen
5	chr11:120498800-120505000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:120499600-120501000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120499800-120501000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr11:120500200-120501000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:120500200-120501000	Enhancers	HSMMtube	muscle
10	chr11:120500200-120501200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:120500200-120501400	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:120500200-120501800	Enhancers	Fetal Muscle Leg	muscle
13	chr11:120500200-120502800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:120500200-120503000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:120500400-120501000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:120500600-120501200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:120500600-120501200	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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