Variant report

Variant	rs72844581
Chromosome Location	chr17:67059245-67059246
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	ZNF143	chr17:67059115-67059325	K562	blood:	n/a	n/a
2	ZNF143	chr17:67059174-67059300	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr17:67059066-67059353	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67056217..67058321-chr17:67058531..67061297,2	K562	blood:
2	chr17:67054448..67056090-chr17:67057770..67060664,2	K562	blood:

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs61697543	1.00[AMR][1000 genomes]
rs7217005	1.00[AMR][1000 genomes]
rs72844578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72851720	0.87[AMR][1000 genomes]
rs72851722	0.87[AMR][1000 genomes]
rs72851723	1.00[AMR][1000 genomes]
rs72851731	1.00[AMR][1000 genomes]
rs72851733	1.00[AMR][1000 genomes]
rs72851734	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72851735	1.00[AMR][1000 genomes]
rs8068047	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:26 , 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	chr17:67057400-67060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:67057800-67059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:67057800-67077600	Weak transcription	Fetal Brain Male	brain
8	chr17:67058000-67059400	Weak transcription	Brain Substantia Nigra	brain
9	chr17:67058000-67060000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr17:67058000-67060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:67058200-67059400	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:67058200-67062600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr17:67058200-67063000	Weak transcription	Fetal Kidney	kidney
14	chr17:67058200-67065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:67058200-67065400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr17:67058200-67066600	Weak transcription	Fetal Lung	lung
17	chr17:67058400-67071600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:67058600-67059400	Enhancers	Ovary	ovary
19	chr17:67058600-67060400	Weak transcription	K562	blood
20	chr17:67058600-67060400	Weak transcription	NHDF-Ad	bronchial
21	chr17:67058800-67065400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr17:67059000-67059600	Enhancers	Liver	Liver
23	chr17:67059200-67059400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:67059200-67059600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:67059200-67059600	Enhancers	Adipose Nuclei	Adipose
26	chr17:67059200-67059800	Enhancers	Monocytes-CD14+_RO01746	blood

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