Variant report

Variant	rs721813
Chromosome Location	chr17:67146732-67146733
allele	A/G
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	CEBPB	chr17:67146471-67146831	K562	blood:	n/a	chr17:67146651-67146662
2	CEBPB	chr17:67146494-67146829	HepG2	liver:	n/a	chr17:67146651-67146662
3	CEBPB	chr17:67146579-67146799	A549	lung:	n/a	chr17:67146651-67146662
4	CEBPB	chr17:67146520-67146813	IMR90	lung:	n/a	chr17:67146651-67146662

Variant related genes	Relation type
ABCA10	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1011789	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1024598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11077396	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11077403	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11077408	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11077414	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1118164	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11654430	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655199	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11655912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11658738	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11659091	0.85[CHB][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs11659119	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11868299	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12451663	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12940557	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12941264	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12943387	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12948396	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12950143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12951091	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12952984	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1558167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1974575	0.81[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap]
rs1974578	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215149	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364990	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2364991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2364992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4358004	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968841	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968842	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968850	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62082734	0.92[ASN][1000 genomes]
rs7208382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7212188	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7221183	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7223736	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7504026	0.85[CHB][hapmap]
rs8064583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8065924	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8066629	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8067584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8069791	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070459	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8071249	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8071373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8071611	0.84[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073982	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8075377	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8079681	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8080065	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8080693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282552	0.81[ASN][1000 genomes]
rs9709278	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9894644	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909216	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9910035	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv575930	chr17:67120025-67212031	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
2	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:67132000-67151600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:67138000-67154000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr17:67138200-67150600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:67138200-67151200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:67138200-67151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:67138200-67152200	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:67138600-67147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr17:67138600-67155400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:67138800-67152000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:67138800-67162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:67138800-67182000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr17:67140200-67154000	Weak transcription	Fetal Lung	lung
16	chr17:67141600-67155400	Weak transcription	Colon Smooth Muscle	Colon
17	chr17:67141800-67171800	Weak transcription	GM12878-XiMat	blood
18	chr17:67142000-67148800	Weak transcription	NHDF-Ad	bronchial
19	chr17:67142200-67152400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:67142400-67151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:67143800-67154200	Weak transcription	Right Ventricle	heart
22	chr17:67144000-67148600	Weak transcription	Spleen	Spleen
23	chr17:67144000-67151600	Weak transcription	Fetal Intestine Large	intestine
24	chr17:67144000-67163200	Weak transcription	Left Ventricle	heart
25	chr17:67144000-67175800	Weak transcription	Gastric	stomach
26	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
27	chr17:67144800-67150400	Strong transcription	Liver	Liver
28	chr17:67145000-67150200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:67145800-67147800	Weak transcription	Adipose Nuclei	Adipose
30	chr17:67146000-67146800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr17:67146000-67146800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr17:67146000-67147200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:67146000-67147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:67146000-67147400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:67146000-67147600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:67146000-67148400	Weak transcription	Pancreas	Pancrea
37	chr17:67146600-67146800	Weak transcription	Ovary	ovary

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