Variant report

Variant	rs7924948
Chromosome Location	chr11:120498024-120498025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12807172	0.95[YRI][hapmap]
rs4445643	0.89[LWK][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs4936533	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71473171	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7924856	0.89[LWK][hapmap];0.91[YRI][hapmap]
rs7928903	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7924948	BCL9L	cis	parietal	SCAN
rs7924948	BUD13	cis	cerebellum	SCAN
rs7924948	HSPA8	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120484800-120507400	Weak transcription	Right Atrium	heart
2	chr11:120485400-120498200	Weak transcription	Ovary	ovary
3	chr11:120489600-120500200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120489800-120499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120490000-120500200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:120493800-120500200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:120493800-120500200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:120494000-120504600	Weak transcription	Fetal Lung	lung
9	chr11:120497600-120498800	Enhancers	Fetal Intestine Large	intestine
10	chr11:120498000-120498200	Enhancers	Fetal Intestine Small	intestine
11	chr11:120498000-120498600	ZNF genes & repeats	Spleen	Spleen
12	chr11:120498000-120498800	Enhancers	Fetal Muscle Trunk	muscle

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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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