Variant report

Variant	rs12717222
Chromosome Location	chr14:33097102-33097103
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	chr14:33081326..33083127-chr14:33096469..33099467,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10130459	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10135053	0.81[EUR][1000 genomes]
rs10138218	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1033678	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10735738	0.96[ASN][1000 genomes]
rs11156754	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11625087	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11626762	0.86[ASN][1000 genomes]
rs17099309	0.89[ASN][1000 genomes]
rs17099320	0.89[ASN][1000 genomes]
rs17099324	0.89[ASN][1000 genomes]
rs17099326	0.86[ASN][1000 genomes]
rs1956203	0.81[AMR][1000 genomes]
rs1956212	0.82[ASN][1000 genomes]
rs1956219	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3784203	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981992	0.96[ASN][1000 genomes]
rs4981993	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981995	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61981363	0.86[ASN][1000 genomes]
rs61983021	0.89[ASN][1000 genomes]
rs6571540	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6571541	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6571547	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7146517	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152044	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7154753	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156763	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7157328	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7157533	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7157744	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160156	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255099	0.86[ASN][1000 genomes]
rs8017249	0.86[ASN][1000 genomes]
rs927060	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs979494	0.86[ASN][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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33078800-33098200	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
4	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:33089600-33102600	Weak transcription	Psoas Muscle	Psoas
6	chr14:33092400-33102800	Weak transcription	Right Ventricle	heart
7	chr14:33093200-33098200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:33093200-33098200	Weak transcription	Brain Substantia Nigra	brain
9	chr14:33093200-33102800	Weak transcription	Left Ventricle	heart
10	chr14:33093200-33103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:33093200-33104200	Weak transcription	HSMM	muscle
12	chr14:33093800-33104000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:33094000-33102400	Weak transcription	NHDF-Ad	bronchial
14	chr14:33094400-33098200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:33096200-33098000	Enhancers	Fetal Heart	heart
16	chr14:33096200-33102800	Weak transcription	HSMMtube	muscle
17	chr14:33096600-33097200	Enhancers	Fetal Intestine Large	intestine
18	chr14:33096600-33097400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr14:33096600-33098000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:33096800-33097200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:33096800-33097200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:33096800-33097200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:33096800-33097400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:33096800-33097400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:33096800-33097400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr14:33096800-33097600	Enhancers	Dnd41	blood
27	chr14:33096800-33098800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:33096800-33102400	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:33096800-33105400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:33097000-33097800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:33097000-33098000	Enhancers	Brain Inferior Temporal Lobe	brain

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