Variant report

Variant	rs1271040
Chromosome Location	chr14:65265685-65265686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65264248..65268196-chr14:65377647..65381035,3	MCF-7	breast:
2	chr14:65264806..65267601-chr14:65268101..65270976,2	K562	blood:
3	chr14:65264347..65266634-chr14:65358841..65360422,2	MCF-7	breast:
4	chr14:65255220..65257870-chr14:65263739..65266430,2	MCF-7	breast:
5	chr14:65263037..65265900-chr14:65453092..65455357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs151165	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1741464	0.80[AFR][1000 genomes]
rs17767662	0.82[ASN][1000 genomes]
rs192036	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038433	0.91[EUR][1000 genomes]
rs2269295	0.91[EUR][1000 genomes]
rs2269296	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2269297	0.81[EUR][1000 genomes]
rs229581	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229587	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229588	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229589	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229591	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs229672	0.82[ASN][1000 genomes]
rs229673	0.82[ASN][1000 genomes]
rs229675	0.82[ASN][1000 genomes]
rs3819928	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs433143	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902317	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8017385	0.82[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	esv2757572	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2759994	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3437893	chr14:65263699-65267897	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65232200-65274200	Weak transcription	Gastric	stomach
2	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
4	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
5	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
7	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
8	chr14:65255600-65268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:65257200-65271600	Strong transcription	Right Ventricle	heart
10	chr14:65257400-65267000	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:65258000-65266800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:65258000-65274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:65258200-65266800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:65258200-65271800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr14:65258400-65266800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:65258600-65272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:65259800-65266600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:65262000-65270400	Weak transcription	Brain Anterior Caudate	brain
19	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:65262200-65271800	Weak transcription	Brain Angular Gyrus	brain
21	chr14:65262800-65270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:65263400-65271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:65264200-65265800	Weak transcription	Left Ventricle	heart
24	chr14:65264400-65266000	Strong transcription	Fetal Heart	heart
25	chr14:65265000-65266000	Strong transcription	Aorta	Aorta
26	chr14:65265000-65270000	Strong transcription	K562	blood
27	chr14:65265600-65266000	ZNF genes & repeats	Fetal Brain Male	brain
28	chr14:65265600-65268400	Strong transcription	Brain Germinal Matrix	brain
29	chr14:65265600-65269200	Strong transcription	Fetal Brain Female	brain

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