Variant report

Variant	rs17023450
Chromosome Location	chr2:100668450-100668451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100664977..100666534-chr2:100666677..100669564,2	MCF-7	breast:
2	chr2:100667612..100670539-chr2:100674025..100676308,2	K562	blood:
3	chr2:100663847..100665928-chr2:100667859..100670315,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10178929	1.00[EUR][1000 genomes]
rs10191655	1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[EUR][1000 genomes]
rs13414915	1.00[AMR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs17023418	1.00[EUR][1000 genomes]
rs17023423	1.00[EUR][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs6741766	1.00[AMR][1000 genomes]
rs6743560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72954123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968866	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100656400-100680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:100659400-100680000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:100659800-100671600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:100660000-100669000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:100660600-100678200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:100660800-100668800	Weak transcription	Lung	lung
8	chr2:100661600-100668800	Weak transcription	Fetal Brain Female	brain
9	chr2:100661800-100670400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:100662200-100684800	Weak transcription	Ovary	ovary
11	chr2:100662800-100674200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:100663000-100670400	Weak transcription	Gastric	stomach
13	chr2:100663000-100680800	Weak transcription	Fetal Kidney	kidney
14	chr2:100663000-100682200	Weak transcription	Fetal Heart	heart
15	chr2:100663400-100671600	Weak transcription	Primary T cells from cord blood	blood
16	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
17	chr2:100664800-100668800	Weak transcription	Fetal Lung	lung
18	chr2:100665800-100669200	Weak transcription	Left Ventricle	heart
19	chr2:100666400-100672800	Weak transcription	NH-A	brain
20	chr2:100666800-100671800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:100666800-100675000	Strong transcription	Primary B cells from cord blood	blood
22	chr2:100666800-100675800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:100667200-100669200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:100667400-100669600	Enhancers	Fetal Thymus	thymus
25	chr2:100667400-100669800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:100667400-100670600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:100667800-100668800	Weak transcription	Dnd41	blood
28	chr2:100667800-100671600	Weak transcription	Fetal Brain Male	brain
29	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:100668200-100669000	Enhancers	Thymus	Thymus
31	chr2:100668400-100669200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:100668400-100669400	Strong transcription	Brain Germinal Matrix	brain
33	chr2:100668400-100670800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:100668400-100671000	Enhancers	Primary neutrophils fromperipheralblood	blood

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