Variant report

Variant	rs71357712
Chromosome Location	chr17:67061264-67061265
allele	CA/TG
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	MAFK	chr17:67061198-67061294	HepG2	liver:	n/a	n/a
2	RUNX3	chr17:67061040-67061462	GM12878	blood:	n/a	n/a
3	CEBPB	chr17:67061143-67061621	K562	blood:	n/a	chr17:67061441-67061452
4	CEBPB	chr17:67061259-67061637	Hela-S3	cervix:	n/a	chr17:67061441-67061452

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67056217..67058321-chr17:67058531..67061297,2	K562	blood:
2	chr17:67060982..67062981-chr17:67064370..67065901,2	MCF-7	breast:

Variant related genes	Relation type
ABCA9	TF binding region
ENSG00000154258	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10512523	0.87[EUR][1000 genomes]
rs11659114	0.82[ASN][1000 genomes]
rs11871944	0.81[ASN][1000 genomes]
rs12325889	0.82[EUR][1000 genomes]
rs2079808	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4968993	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62082714	0.81[ASN][1000 genomes]
rs7217543	0.81[ASN][1000 genomes]
rs8066691	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8067578	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8070285	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9789039	0.91[EUR][1000 genomes]
rs9902602	0.85[AMR][1000 genomes];0.82[EUR][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	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1066998	chr17:67060038-67090475	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr17:67053800-67066800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr17:67056200-67075200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:67057000-67062400	Weak transcription	Fetal Muscle Leg	muscle
5	chr17:67057800-67077600	Weak transcription	Fetal Brain Male	brain
6	chr17:67058200-67062600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:67058200-67063000	Weak transcription	Fetal Kidney	kidney
8	chr17:67058200-67065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:67058200-67065400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:67058200-67066600	Weak transcription	Fetal Lung	lung
11	chr17:67058400-67071600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:67058800-67065400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr17:67059600-67062400	Weak transcription	Liver	Liver
14	chr17:67059600-67069600	Weak transcription	Adipose Nuclei	Adipose
15	chr17:67059800-67061400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:67059800-67061400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr17:67060000-67065600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr17:67060000-67070000	Weak transcription	Ovary	ovary
19	chr17:67060200-67061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:67060200-67061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:67060200-67061600	Enhancers	Hela-S3	cervix
22	chr17:67060400-67062000	Enhancers	K562	blood
23	chr17:67060600-67062000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:67060800-67062600	Enhancers	Primary T cells from cord blood	blood
25	chr17:67060800-67065400	Weak transcription	NHDF-Ad	bronchial
26	chr17:67061200-67061400	Enhancers	GM12878-XiMat	blood
27	chr17:67061200-67061600	Enhancers	HepG2	liver
28	chr17:67061200-67062200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr17:67061200-67063200	Enhancers	Dnd41	blood

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