Variant report

Variant	rs67634762
Chromosome Location	chr15:31748055-31748056
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:31747980-31748130	A549	lung:	n/a	n/a
2	CTCF	chr15:31748020-31748170	NHLF	lung:	n/a	n/a
3	CTCF	chr15:31747940-31748090	HA-sp	spinal cord:	n/a	n/a
4	RAD21	chr15:31747699-31748143	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31747904..31750478-chr15:31754531..31757245,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259696	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1075232	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858516	0.81[ASN][1000 genomes]
rs12437749	0.84[AMR][1000 genomes]
rs12437800	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12438318	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12438813	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12439239	0.84[AMR][1000 genomes]
rs12439853	0.84[AMR][1000 genomes]
rs12440108	0.82[ASN][1000 genomes]
rs12441163	0.82[ASN][1000 genomes]
rs16956707	0.84[AMR][1000 genomes]
rs16956738	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16956797	0.82[ASN][1000 genomes]
rs16956801	0.82[ASN][1000 genomes]
rs34959140	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4450360	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56249651	0.98[ASN][1000 genomes]
rs56396205	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57491435	0.82[ASN][1000 genomes]
rs57924788	1.00[ASN][1000 genomes]
rs58156651	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66581165	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67216354	0.98[ASN][1000 genomes]
rs67699697	0.98[ASN][1000 genomes]
rs7166243	0.82[ASN][1000 genomes]
rs72722829	0.84[AMR][1000 genomes]
rs72722847	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72722861	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72724938	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72724958	1.00[ASN][1000 genomes]
rs72724993	0.82[ASN][1000 genomes]
rs72724997	0.82[ASN][1000 genomes]
rs9672214	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9672538	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1051589	chr15:31728004-31972706	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv542320	chr15:31728004-31972706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv469633	chr15:31731003-31904613	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv482330	chr15:31731003-31904613	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv903844	chr15:31736091-31781988	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1046271	chr15:31741255-31795961	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs67634762	CHRNA7	cis	lung	GTEx
rs67634762	RP11-932O9.7	cis	lung	GTEx
rs67634762	CHRNA7	cis	Whole Blood	GTEx
rs67634762	CTD-3092A11.2	cis	lung	GTEx
rs67634762	CHRNA7	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31734400-31750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31741400-31749400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:31745600-31748800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:31745800-31748800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:31745800-31750000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:31747000-31750800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:31747200-31748200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:31747400-31748200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:31747400-31748200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr15:31747400-31748200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:31747400-31748200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr15:31747600-31748800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:31747600-31749000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:31747800-31748200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr15:31747800-31748200	Enhancers	GM12878-XiMat	blood
16	chr15:31748000-31748200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr15:31748000-31749000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:31748000-31749600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr15:31748000-31751000	Weak transcription	Primary T cells from cord blood	blood
20	chr15:31748000-31751000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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