Variant report

Variant	rs229643
Chromosome Location	chr14:65247227-65247228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65243489..65248143-chr14:65249135..65251495,4	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1626923	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1695764	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs170684	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1741485	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1741486	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1741487	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1741488	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1741489	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229629	0.85[ASN][1000 genomes]
rs229635	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs229638	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs229640	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs229641	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs229642	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357726	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357727	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2884253	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819932	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56361624	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573568	0.80[ASN][1000 genomes]
rs8017466	0.80[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:26 , 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	chr14:65242600-65248800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:65245200-65248800	Weak transcription	Fetal Brain Female	brain
14	chr14:65245200-65257600	Weak transcription	HSMMtube	muscle
15	chr14:65246400-65253200	Weak transcription	Spleen	Spleen
16	chr14:65246600-65251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:65246600-65251000	Weak transcription	K562	blood
18	chr14:65246800-65248000	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:65246800-65248200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:65246800-65250400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:65246800-65250400	Weak transcription	Left Ventricle	heart
22	chr14:65246800-65252400	Weak transcription	Psoas Muscle	Psoas
23	chr14:65247000-65248600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:65247000-65249000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:65247000-65250800	Weak transcription	Right Ventricle	heart
26	chr14:65247000-65251000	Weak transcription	Fetal Heart	heart

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