Variant report

Variant	rs683956
Chromosome Location	chr11:100712034-100712035
allele	C/T
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:7)

rs_ID	r²[population]
rs527132	1.00[AFR][1000 genomes]
rs532256	0.81[AFR][1000 genomes]
rs543220	1.00[YRI][hapmap]
rs599222	0.81[AFR][1000 genomes]
rs619947	0.83[AFR][1000 genomes]
rs650767	1.00[AFR][1000 genomes]
rs658646	0.91[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100698800-100712400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:100699600-100722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:100701600-100717000	Weak transcription	Fetal Kidney	kidney
4	chr11:100703000-100731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:100703800-100712400	Weak transcription	Left Ventricle	heart
6	chr11:100704600-100719600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:100705400-100712600	Weak transcription	HSMMtube	muscle
8	chr11:100709000-100715000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:100710600-100712200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:100711000-100719200	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:100711800-100712400	Enhancers	A549	lung
12	chr11:100711800-100712800	Enhancers	Stomach Mucosa	stomach
13	chr11:100711800-100713000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:100712000-100713000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:100712000-100715600	Enhancers	Liver	Liver

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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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