Variant report

Variant	rs17180350
Chromosome Location	chr14:65249066-65249067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65247579..65249169-chr14:65252112..65254058,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10136659	1.00[JPT][hapmap]
rs11622171	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11623956	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs17180132	1.00[LWK][hapmap]
rs17180252	0.89[AMR][1000 genomes]
rs17180497	0.83[CEU][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes]
rs17767466	0.81[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17880492	1.00[LWK][hapmap]
rs1875054	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2269305	0.81[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2269306	0.83[CEU][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2269307	0.83[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2269308	0.83[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3742602	1.00[LWK][hapmap]
rs4899144	0.83[CEU][hapmap];0.89[AMR][1000 genomes]
rs4899145	0.83[CEU][hapmap];0.89[AMR][1000 genomes]
rs4902309	0.83[CEU][hapmap]
rs4902310	0.83[CEU][hapmap];0.89[AMR][1000 genomes]
rs4902311	0.83[CEU][hapmap];0.89[AMR][1000 genomes]
rs4902312	0.91[CEU][hapmap];0.89[AMR][1000 genomes]
rs4902313	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4902314	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7141792	0.82[CEU][hapmap]
rs747858	0.89[AMR][1000 genomes]
rs911002	0.83[CEU][hapmap];0.89[AMR][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	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
3	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
4	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:65232200-65274200	Weak transcription	Gastric	stomach
6	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
7	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:65242000-65251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:65242200-65250400	Weak transcription	Brain Germinal Matrix	brain
10	chr14:65242400-65252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:65245200-65257600	Weak transcription	HSMMtube	muscle
13	chr14:65246400-65253200	Weak transcription	Spleen	Spleen
14	chr14:65246600-65251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:65246600-65251000	Weak transcription	K562	blood
16	chr14:65246800-65250400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:65246800-65250400	Weak transcription	Left Ventricle	heart
18	chr14:65246800-65252400	Weak transcription	Psoas Muscle	Psoas
19	chr14:65247000-65250800	Weak transcription	Right Ventricle	heart
20	chr14:65247000-65251000	Weak transcription	Fetal Heart	heart
21	chr14:65248800-65249200	Strong transcription	Fetal Brain Female	brain
22	chr14:65248800-65249400	Strong transcription	Fetal Muscle Leg	muscle
23	chr14:65248800-65251200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:65249000-65249400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:65249000-65253000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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