Variant report

Variant	rs17161323
Chromosome Location	chr7:86759238-86759239
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86704472..86706406-chr7:86758436..86761205,2	K562	blood:
2	chr7:86758520..86760252-chr7:86782060..86784571,2	K562	blood:
3	chr7:86756031..86760604-chr7:86784730..86788894,5	K562	blood:
4	chr7:86758739..86761161-chr7:86775271..86777387,2	K562	blood:
5	chr7:86758328..86759848-chr7:86769436..86771788,2	K562	blood:
6	chr7:86687259..86690064-chr7:86758649..86761060,2	MCF-7	breast:
7	chr7:86757205..86760252-chr7:86779952..86783560,4	K562	blood:
8	chr7:86756765..86759432-chr7:86785512..86787976,2	K562	blood:
9	chr7:86756889..86761980-chr7:86767271..86772567,7	K562	blood:
10	chr7:86757924..86761647-chr7:86780561..86782900,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164659	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11771569	0.82[MEX][hapmap]
rs11773103	0.82[MEX][hapmap]
rs11971131	0.82[MEX][hapmap]
rs11971310	0.91[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11971364	0.85[JPT][hapmap]
rs11974238	0.85[JPT][hapmap]
rs11976564	0.85[JPT][hapmap]
rs11978231	0.91[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11980996	0.85[JPT][hapmap]
rs11981403	0.85[JPT][hapmap]
rs11982198	0.85[JPT][hapmap]
rs17161329	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs28873439	0.80[EUR][1000 genomes]
rs55825235	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56209936	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56226963	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56404754	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60341095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202985	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202987	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202988	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202994	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202997	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73203002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204813	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73204816	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73204817	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73204819	0.88[AFR][1000 genomes]
rs73204824	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73204825	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73204826	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs734607	0.91[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs973044	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1028503	chr7:86684514-86778047	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1033834	chr7:86691235-86770796	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv539002	chr7:86691235-86770796	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1023137	chr7:86725145-86767689	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17161323	DMTF1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86757800-86759800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:86757800-86759800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:86757800-86760200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:86758000-86760000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:86758200-86759400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:86758200-86759400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:86758200-86759400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:86758400-86760000	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:86758600-86759400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:86758800-86759400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:86758800-86759600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:86758800-86759800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:86758800-86759800	Enhancers	K562	blood
14	chr7:86759000-86759400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:86759000-86759600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr7:86759000-86759600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:86759000-86759800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:86759000-86760400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:86759000-86763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:86759000-86763400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:86759200-86760400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:86759200-86760600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:86759200-86760600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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