Variant report

Variant	rs7953228
Chromosome Location	chr12:67048041-67048042
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6581710	0.87[CEU][hapmap];0.90[EUR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7953228	IRAK3	cis	cerebellum	SCAN
rs7953228	IL26	cis	cerebellum	SCAN
rs7953228	FAM19A2	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67042600-67048200	Weak transcription	Stomach Mucosa	stomach
2	chr12:67042600-67055800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67046600-67048400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:67046600-67048400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:67047000-67048600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:67047200-67048400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:67047200-67048600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:67047400-67048400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:67047400-67048400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:67047400-67048600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:67047600-67048200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:67047600-67048400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:67047600-67051200	Enhancers	Fetal Brain Male	brain
14	chr12:67047800-67048600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:67047800-67052800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:67048000-67052800	Weak transcription	Right Atrium	heart

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Input of quick search could be:

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

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