Variant report

Variant	rs67051742
Chromosome Location	chr13:76108649-76108650
allele	C/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	POLR2A	chr13:76108550-76110007	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr13:76108197-76108846	K562	blood:	n/a	n/a
3	POLR2A	chr13:76108407-76108789	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:76107791..76110428-chr13:76144234..76145882,2	K562	blood:
2	chr13:76102775..76109881-chr13:76110381..76113047,9	MCF-7	breast:
3	chr13:76106394..76109955-chr13:76110419..76113939,6	MCF-7	breast:
4	chr13:76101122..76104303-chr13:76108576..76110569,3	K562	blood:

Variant related genes	Relation type
COMMD6	TF binding region
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1050235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12146901	0.84[AMR][1000 genomes]
rs12146907	0.84[AMR][1000 genomes]
rs12859594	0.88[EUR][1000 genomes]
rs12859711	0.88[EUR][1000 genomes]
rs12861744	0.88[EUR][1000 genomes]
rs12861774	0.90[EUR][1000 genomes]
rs12865529	1.00[EUR][1000 genomes]
rs12866747	0.88[EUR][1000 genomes]
rs12869081	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12870619	0.87[EUR][1000 genomes]
rs12871445	0.90[EUR][1000 genomes]
rs17064647	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2031234	0.88[EUR][1000 genomes]
rs34072684	0.88[EUR][1000 genomes]
rs34241221	0.88[EUR][1000 genomes]
rs34407556	0.88[EUR][1000 genomes]
rs34572351	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34949196	0.88[EUR][1000 genomes]
rs35132045	0.88[EUR][1000 genomes]
rs35132275	0.90[EUR][1000 genomes]
rs35352582	0.88[EUR][1000 genomes]
rs35556048	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35596538	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35631959	0.90[EUR][1000 genomes]
rs35680815	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35797826	0.83[EUR][1000 genomes]
rs35853105	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35901810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36043532	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4885302	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4885303	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4885304	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4885310	0.94[EUR][1000 genomes]
rs4885311	0.90[EUR][1000 genomes]
rs4885315	0.88[EUR][1000 genomes]
rs4885327	0.88[EUR][1000 genomes]
rs6562904	0.89[EUR][1000 genomes]
rs6562910	0.88[EUR][1000 genomes]
rs6562911	0.86[EUR][1000 genomes]
rs66528354	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66635712	0.88[EUR][1000 genomes]
rs66808557	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67211435	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67270540	0.88[EUR][1000 genomes]
rs67532736	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67656352	0.88[EUR][1000 genomes]
rs68017902	0.88[EUR][1000 genomes]
rs68044755	0.90[EUR][1000 genomes]
rs68052366	0.88[EUR][1000 genomes]
rs71215998	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7321611	0.88[EUR][1000 genomes]
rs7324560	0.88[EUR][1000 genomes]
rs7325969	0.94[EUR][1000 genomes]
rs7337186	0.81[EUR][1000 genomes]
rs7986201	0.86[EUR][1000 genomes]
rs9530443	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9530444	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9543950	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9543952	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9543953	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9543961	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9543962	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3363843	chr13:76106551-76113949	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76093600-76109400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:76095600-76109200	Weak transcription	Gastric	stomach
3	chr13:76095800-76111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:76096600-76110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:76096600-76111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:76097000-76111000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:76097000-76111600	Weak transcription	Spleen	Spleen
8	chr13:76097800-76110400	Weak transcription	Brain Angular Gyrus	brain
9	chr13:76097800-76110600	Weak transcription	Fetal Brain Male	brain
10	chr13:76097800-76110600	Weak transcription	Fetal Kidney	kidney
11	chr13:76097800-76110600	Weak transcription	Psoas Muscle	Psoas
12	chr13:76097800-76111200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr13:76098000-76110400	Weak transcription	A549	lung
14	chr13:76098000-76110400	Weak transcription	HUVEC	blood vessel
15	chr13:76098000-76110600	Weak transcription	Brain Anterior Caudate	brain
16	chr13:76098000-76110600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:76098000-76111200	Weak transcription	Aorta	Aorta
18	chr13:76098200-76109600	Weak transcription	Brain Germinal Matrix	brain
19	chr13:76098200-76110400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr13:76098400-76110200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:76098600-76111000	Weak transcription	Colonic Mucosa	Colon
22	chr13:76098800-76110400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr13:76098800-76111400	Weak transcription	Esophagus	oesophagus
24	chr13:76099400-76109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:76099400-76110400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:76099600-76109400	Weak transcription	HSMMtube	muscle
27	chr13:76099600-76110200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:76099600-76111000	Weak transcription	K562	blood
29	chr13:76100000-76109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr13:76100000-76109200	Weak transcription	Lung	lung
31	chr13:76100000-76109400	Weak transcription	Left Ventricle	heart
32	chr13:76100000-76109400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:76100000-76110600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr13:76100000-76111200	Weak transcription	Ovary	ovary
35	chr13:76100200-76109200	Weak transcription	Colon Smooth Muscle	Colon
36	chr13:76100200-76109200	Weak transcription	Thymus	Thymus
37	chr13:76100200-76110400	Weak transcription	Brain Substantia Nigra	brain
38	chr13:76100200-76110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr13:76100400-76110600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr13:76100600-76109400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr13:76100800-76110000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:76100800-76110600	Weak transcription	Right Ventricle	heart
43	chr13:76101200-76109200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:76102200-76110400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr13:76102400-76109000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr13:76103600-76111000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:76104000-76110600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:76104200-76109400	Weak transcription	Pancreas	Pancrea
49	chr13:76104400-76109000	Strong transcription	Primary B cells from cord blood	blood
50	chr13:76104400-76110400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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