Variant report

Variant	rs4731236
Chromosome Location	chr7:124827236-124827237
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1009450	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs1108985	0.81[ASN][1000 genomes]
rs11534064	0.86[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap]
rs1454125	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1525613	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs17148097	0.89[AFR][1000 genomes]
rs17325193	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs17327014	0.90[JPT][hapmap]
rs17327181	0.89[JPT][hapmap]
rs17327715	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs17329417	0.81[ASN][1000 genomes]
rs17387389	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17387591	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs2054586	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2293346	0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs3214004	1.00[ASW][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap]
rs56068095	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs650030	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs669064	0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs67745021	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68107250	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68169040	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs685345	0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4731236	TMEM229A	cis	cerebellum	SCAN
rs4731236	IMPDH1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124822200-124829600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:124825400-124832400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:124826400-124828200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr7:124827200-124827400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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