Variant report

Variant	rs2269302
Chromosome Location	chr14:65258100-65258101
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	chr14:65255152..65259640-chr14:65260607..65263310,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1353857	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17767579	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2285006	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs229627	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs229628	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3819927	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45607231	0.86[EUR][1000 genomes];0.85[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	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
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65232200-65274200	Weak transcription	Gastric	stomach
4	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
5	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
8	chr14:65251000-65261000	Weak transcription	Brain Angular Gyrus	brain
9	chr14:65251200-65260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
11	chr14:65251400-65259600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:65251600-65264400	Weak transcription	Fetal Heart	heart
13	chr14:65252200-65265600	Weak transcription	Fetal Brain Female	brain
14	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
16	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
17	chr14:65254800-65259800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:65255000-65258600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65255200-65258600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:65255600-65268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:65255800-65260400	Weak transcription	K562	blood
22	chr14:65256200-65258200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:65256400-65258400	Weak transcription	A549	lung
24	chr14:65256400-65258600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:65256600-65258200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:65257200-65271600	Strong transcription	Right Ventricle	heart
27	chr14:65257400-65263400	Strong transcription	Brain Germinal Matrix	brain
28	chr14:65257400-65267000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:65257600-65258200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:65257800-65258200	Weak transcription	HMEC	breast
31	chr14:65257800-65258400	Weak transcription	Left Ventricle	heart
32	chr14:65258000-65258200	Strong transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:65258000-65266800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:65258000-65274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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