Variant report

Variant	rs2363753
Chromosome Location	chr17:66875992-66875993
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	POLR2A	chr17:66875957-66876157	K562	blood:	n/a	n/a
2	POLR2A	chr17:66875842-66876139	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66874045..66876700-chr17:66880164..66881823,2	MCF-7	breast:
2	chr17:66873136..66876318-chr17:66877176..66880120,3	MCF-7	breast:

Variant related genes	Relation type
ABCA8	TF binding region
ENSG00000141338	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1373066	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1443259	0.84[AMR][1000 genomes]
rs1443261	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1443262	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1470292	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1470293	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1470294	0.84[AMR][1000 genomes]
rs1481	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550646	1.00[ASN][1000 genomes]
rs1838100	0.84[AMR][1000 genomes]
rs1838101	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1978962	1.00[ASN][1000 genomes]
rs2083790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218350	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4246431	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4968826	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4968967	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57304003	1.00[ASN][1000 genomes]
rs6501813	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6501835	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6501839	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7209220	0.95[EUR][1000 genomes]
rs7210022	0.96[EUR][1000 genomes]
rs7211979	0.96[EUR][1000 genomes]
rs7216817	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068204	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8074944	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8078168	1.00[ASN][1000 genomes]
rs8080098	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8082619	0.84[AMR][1000 genomes]
rs894594	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs980423	0.84[AMR][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	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv908695	chr17:66865583-66904001	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66866800-66883600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:66867400-66876200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:66867800-66876200	Weak transcription	Osteobl	bone
4	chr17:66869200-66876000	Strong transcription	Adipose Nuclei	Adipose
5	chr17:66869200-66876000	Strong transcription	Left Ventricle	heart
6	chr17:66869200-66903400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:66869600-66876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:66869800-66883400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:66870200-66876000	Weak transcription	Brain Angular Gyrus	brain
10	chr17:66870400-66876400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:66870800-66877000	Weak transcription	Fetal Heart	heart
12	chr17:66873400-66880800	Strong transcription	Fetal Lung	lung
13	chr17:66874000-66877600	ZNF genes & repeats	Brain Anterior Caudate	brain
14	chr17:66874200-66876200	Strong transcription	Right Ventricle	heart
15	chr17:66874400-66877200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
16	chr17:66875400-66877800	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr17:66875400-66881200	Strong transcription	Psoas Muscle	Psoas
18	chr17:66875600-66876000	Enhancers	Fetal Muscle Leg	muscle
19	chr17:66875600-66877000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:66875600-66877000	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr17:66875600-66877000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
22	chr17:66875600-66877000	ZNF genes & repeats	Fetal Stomach	stomach
23	chr17:66875600-66877000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr17:66875600-66877000	ZNF genes & repeats	Spleen	Spleen
25	chr17:66875600-66877200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:66875600-66877200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:66875600-66877200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr17:66875600-66877600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:66875600-66881400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:66875800-66876200	Strong transcription	Brain Cingulate Gyrus	brain
31	chr17:66875800-66876200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr17:66875800-66876400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:66875800-66877000	ZNF genes & repeats	Lung	lung
34	chr17:66875800-66877200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:66875800-66877200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr17:66875800-66877200	ZNF genes & repeats	Gastric	stomach
37	chr17:66875800-66877600	ZNF genes & repeats	Liver	Liver
38	chr17:66875800-66877800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr17:66875800-66878200	ZNF genes & repeats	Ovary	ovary

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