Variant report

Variant	rs9543969
Chromosome Location	chr13:76114801-76114802
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1080346	0.86[ASN][1000 genomes]
rs1080347	0.86[ASN][1000 genomes]
rs12866456	0.81[CEU][hapmap];0.84[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs1323694	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs1323696	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs1408042	0.86[ASN][1000 genomes]
rs1535728	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[ASN][1000 genomes]
rs2031235	0.80[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs2281762	0.84[CHB][hapmap]
rs2328961	0.84[CHB][hapmap]
rs2328962	0.81[CEU][hapmap];0.84[CHB][hapmap];0.84[GIH][hapmap]
rs2876705	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[ASN][1000 genomes]
rs3812844	0.84[CHB][hapmap]
rs3812845	0.81[CEU][hapmap];0.84[CHB][hapmap]
rs3812846	0.81[CEU][hapmap];0.84[CHB][hapmap];0.84[GIH][hapmap]
rs4539477	0.81[JPT][hapmap]
rs4884008	0.81[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs4885319	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4885321	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs6562903	0.86[ASN][1000 genomes]
rs7139862	0.81[CEU][hapmap];0.84[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs7319227	0.86[ASN][1000 genomes]
rs7319334	0.94[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs7326807	0.84[CHB][hapmap]
rs7358977	0.81[CEU][hapmap];0.84[CHB][hapmap]
rs7982613	0.84[CHB][hapmap]
rs7984443	0.84[CHB][hapmap]
rs7995040	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8000062	0.83[CHB][hapmap]
rs8192741	0.81[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs8192746	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs9318358	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs9530453	0.84[CHB][hapmap]
rs9543951	0.81[ASN][1000 genomes]
rs9543966	0.96[ASN][1000 genomes]
rs9543970	0.97[ASN][1000 genomes]
rs9543971	0.95[ASN][1000 genomes]
rs9543994	0.84[CHB][hapmap]
rs9573580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs966058	0.81[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs972542	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3326553	chr13:76106251-76120849	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3346687	chr13:76106451-76115149	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv14404	chr13:76107773-76119573	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1833250	chr13:76109534-76117768	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv442676	chr13:76109534-76117768	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv2760289	chr13:76109536-76117768	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv514711	chr13:76111087-76115423	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv2421984	chr13:76111280-76119506	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv525594	chr13:76111280-76119506	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv818980	chr13:76111280-76119506	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv3350275	chr13:76113551-76120649	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
17	esv3428782	chr13:76113751-76120749	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
18	esv2753078	chr13:76114699-76117699	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76112200-76123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:76112600-76115000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr13:76112600-76115000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:76112600-76119200	Weak transcription	NHLF	lung
5	chr13:76112600-76122800	Weak transcription	Fetal Brain Male	brain
6	chr13:76112600-76123000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:76112600-76123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:76112600-76123600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:76112800-76115000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr13:76112800-76115200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:76112800-76115200	Weak transcription	GM12878-XiMat	blood
12	chr13:76112800-76115200	Weak transcription	K562	blood
13	chr13:76112800-76116000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:76112800-76118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:76112800-76119200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:76112800-76122800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:76112800-76122800	Weak transcription	Brain Anterior Caudate	brain
18	chr13:76112800-76123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:76112800-76123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:76112800-76123000	Weak transcription	Adipose Nuclei	Adipose
21	chr13:76114200-76118600	Weak transcription	Osteobl	bone
22	chr13:76114400-76118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:76114600-76115600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr13:76114600-76116200	Enhancers	HepG2	liver
25	chr13:76114800-76117800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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