Variant report

Variant	rs322256
Chromosome Location	chr7:136974184-136974185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10268741	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11765480	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1367590	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1473355	0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1835534	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1880790	0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1882066	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322257	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3959914	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3959915	0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6943993	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6950835	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970674	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6972523	0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7782295	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9969157	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]

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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831149	chr7:136831665-137006468	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv889238	chr7:136915059-136989606	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv889239	chr7:136923730-136994013	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv889240	chr7:136972027-137038092	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs322256	C7orf49	cis	parietal	SCAN
rs322256	LRGUK	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136938200-136980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:136961400-136980600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:136968600-136989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:136969600-136974200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:136972000-136978400	Weak transcription	Brain Substantia Nigra	brain
6	chr7:136972200-136978000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:136972200-136979400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:136972200-136990400	Weak transcription	Fetal Stomach	stomach
9	chr7:136972800-136978800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:136973000-136976200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:136973600-136974600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:136973600-136974800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:136973600-136975200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:136973800-136974200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:136973800-136974400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:136973800-136974600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:136973800-136974600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:136974000-136974200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:136974000-136974200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:136974000-136974600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:136974000-136974600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:136974000-136974600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:136974000-136977200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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