Variant report

Variant	rs7186832
Chromosome Location	chr16:31230463-31230464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31224607..31228089-chr16:31228786..31231943,5	K562	blood:
2	chr16:31127430..31129322-chr16:31228259..31230937,2	MCF-7	breast:
3	chr16:31225327..31230953-chr16:31277531..31282411,8	MCF-7	breast:
4	chr16:31202583..31204612-chr16:31229217..31230740,2	K562	blood:
5	chr16:31222074..31224513-chr16:31230184..31232850,3	K562	blood:
6	chr16:31228568..31232083-chr16:31234604..31238425,4	K562	blood:
7	chr16:31225230..31228089-chr16:31228786..31231943,3	K562	blood:
8	chr16:31229524..31232280-chr16:31234140..31236879,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261925	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000252876	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1052352	0.89[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11641624	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs11645526	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs11864632	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12926743	0.88[EUR][1000 genomes]
rs12929077	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12935054	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13333997	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13336592	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs17708638	0.87[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs1808430	0.82[AMR][1000 genomes]
rs2288005	0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2735393	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3764323	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764327	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs3815801	0.83[CEU][hapmap]
rs4496161	0.93[ASN][1000 genomes]
rs4561481	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4889537	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889538	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889633	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889640	0.96[CEU][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs57348955	0.87[ASN][1000 genomes]
rs7184910	0.94[ASN][1000 genomes]
rs7187143	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7193943	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs741810	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8048583	0.87[CEU][hapmap]
rs8051304	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8056505	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8057320	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs8062426	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs889551	0.80[EUR][1000 genomes]
rs9923270	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
9	nsv905744	chr16:31216517-31234288	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv905745	chr16:31216517-31247924	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv905746	chr16:31223549-31237920	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7186832	CD19	cis	cerebellum	SCAN
rs7186832	ITGAX	cis	lymphoblastoid	seeQTL
rs7186832	QPRT	cis	cerebellum	SCAN
rs7186832	RABEP2	cis	cerebellum	SCAN
rs7186832	TUFM	cis	parietal	SCAN
rs7186832	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx
rs7186832	YPEL3	cis	parietal	SCAN
rs7186832	MYST1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31227600-31230600	Weak transcription	HSMMtube	muscle
2	chr16:31227600-31232400	Weak transcription	K562	blood
3	chr16:31227600-31239600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:31228400-31230800	Weak transcription	HSMM	muscle
5	chr16:31228400-31240200	Weak transcription	Right Atrium	heart
6	chr16:31228800-31240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:31230200-31231000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr16:31230400-31230600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:31230400-31230800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:31230400-31231000	Genic enhancers	Psoas Muscle	Psoas
11	chr16:31230400-31232800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
12	chr16:31230400-31238800	Strong transcription	Fetal Muscle Leg	muscle

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