Variant report

Variant	rs7222535
Chromosome Location	chr17:66394359-66394360
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	RAD21	chr17:66394055-66395841	SK-N-SH	brain:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
2	CTCF	chr17:66394118-66395965	A549	lung:	n/a	chr17:66395366-66395375 chr17:66395288-66395297

No.	Distal block	Cell Line	Cell type
1	chr17:66390166..66392142-chr17:66393386..66395992,2	MCF-7	breast:
2	chr17:66242538..66245252-chr17:66393478..66396830,5	MCF-7	breast:
3	chr17:66372410..66375264-chr17:66393839..66395761,3	MCF-7	breast:
4	chr17:66283412..66291453-chr17:66391949..66401713,36	MCF-7	breast:
5	chr17:66285328..66292038-chr17:66391246..66397817,23	MCF-7	breast:
6	chr17:66325419..66327981-chr17:66392778..66395039,2	MCF-7	breast:
7	chr17:66390399..66392735-chr17:66392746..66395259,2	MCF-7	breast:
8	chr17:66393437..66396147-chr17:66461455..66462987,2	MCF-7	breast:

Variant related genes	Relation type
ARSG	TF binding region
ENSG00000265100	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000196704	Chromatin interaction
ENSG00000141337	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs3744302	0.85[EUR][1000 genomes]
rs57197811	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60617109	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60617294	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60904747	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501428	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501429	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501430	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208111	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7211680	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7211698	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215499	0.88[AMR][1000 genomes]
rs7218158	0.81[ASN][1000 genomes]
rs7342975	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076774	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8078085	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv3339150	chr17:66392257-66396455	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66381000-66394800	Weak transcription	Primary B cells from cord blood	blood
2	chr17:66381000-66394800	Weak transcription	Fetal Kidney	kidney
3	chr17:66383600-66395800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:66384000-66394400	Weak transcription	Fetal Heart	heart
5	chr17:66388000-66394800	Weak transcription	Pancreas	Pancrea
6	chr17:66391400-66394400	Weak transcription	Liver	Liver
7	chr17:66391400-66394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:66391400-66394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:66391400-66394800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:66391400-66394800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:66391400-66394800	Weak transcription	Brain Anterior Caudate	brain
12	chr17:66391400-66394800	Weak transcription	Esophagus	oesophagus
13	chr17:66391400-66395000	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:66391400-66395000	Weak transcription	Brain Substantia Nigra	brain
15	chr17:66391400-66397600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:66391600-66394800	Weak transcription	Lung	lung
17	chr17:66391600-66395000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:66391600-66395000	Weak transcription	Aorta	Aorta
19	chr17:66391600-66395000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:66391800-66394400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:66391800-66394800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:66392000-66394600	Enhancers	Dnd41	blood
23	chr17:66392000-66394800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:66392000-66394800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr17:66392000-66394800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr17:66392000-66394800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr17:66392000-66398000	Enhancers	Fetal Thymus	thymus
28	chr17:66392400-66396000	Enhancers	Adipose Nuclei	Adipose
29	chr17:66392600-66397000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:66392600-66397600	Enhancers	Thymus	Thymus
31	chr17:66392800-66397000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr17:66392800-66397200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:66393000-66394400	Weak transcription	HepG2	liver
34	chr17:66393000-66395000	Enhancers	Hela-S3	cervix
35	chr17:66393000-66396000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr17:66393000-66397000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr17:66393000-66397200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr17:66393200-66394600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:66393200-66394800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:66393200-66394800	Weak transcription	Brain Angular Gyrus	brain
41	chr17:66393400-66394800	Weak transcription	Spleen	Spleen
42	chr17:66393600-66394800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:66393600-66394800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr17:66393600-66394800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:66393600-66394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:66393600-66394800	Weak transcription	Left Ventricle	heart
47	chr17:66393600-66394800	Weak transcription	Right Ventricle	heart
48	chr17:66393600-66395200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:66393600-66398400	Weak transcription	Right Atrium	heart
50	chr17:66393800-66394800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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