Variant report

Variant	rs1243458
Chromosome Location	chr14:21497982-21497983
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21492029..21495068-chr14:21497147..21502990,6	K562	blood:

Variant related genes	Relation type
ENSG00000165795	Chromatin interaction
ENSG00000258604	Chromatin interaction
ENSG00000179636	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1243457	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
4	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
5	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21494400-21498400	Weak transcription	Fetal Kidney	kidney
2	chr14:21494400-21500000	Weak transcription	Esophagus	oesophagus
3	chr14:21495400-21498400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:21495400-21500000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:21495400-21501600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:21495400-21505200	Weak transcription	Spleen	Spleen
7	chr14:21495400-21514200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:21495600-21499600	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:21495600-21500800	Weak transcription	Right Ventricle	heart
10	chr14:21496000-21499400	Weak transcription	HepG2	liver
11	chr14:21496000-21500000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:21496000-21500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:21496200-21499600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:21496200-21499600	Weak transcription	K562	blood
15	chr14:21496200-21499800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:21496200-21499800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:21496200-21500000	Weak transcription	Brain Anterior Caudate	brain
18	chr14:21496200-21500800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:21496400-21498200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:21496400-21499800	Weak transcription	Ovary	ovary
21	chr14:21496800-21500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:21497000-21500600	Strong transcription	Liver	Liver
23	chr14:21497200-21498600	Enhancers	Psoas Muscle	Psoas

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