Variant report

Variant	rs3818613
Chromosome Location	chr14:21500411-21500412
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr14:21500192-21500475	K562	blood:	n/a	n/a
2	POLR2A	chr14:21500286-21500446	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21487890..21490586-chr14:21498522..21500630,2	K562	blood:
2	chr14:21498286..21500648-chr14:21502338..21505596,3	K562	blood:
3	chr14:21500318..21502814-chr14:21570831..21572874,2	MCF-7	breast:
4	chr14:21458581..21460223-chr14:21499152..21500713,2	MCF-7	breast:
5	chr14:21491425..21493645-chr14:21500297..21503030,2	MCF-7	breast:
6	chr14:21492029..21495068-chr14:21497147..21502990,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255472	TF binding region
ENSG00000165795	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000165792	Chromatin interaction
ENSG00000258604	Chromatin interaction
ENSG00000179636	Chromatin interaction
ENSG00000206150	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1952525	0.83[AMR][1000 genomes]
rs2282035	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818615	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1039369	chr14:21499054-21530301	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21495400-21501600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:21495400-21505200	Weak transcription	Spleen	Spleen
3	chr14:21495400-21514200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21495600-21500800	Weak transcription	Right Ventricle	heart
5	chr14:21496200-21500800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:21496800-21500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:21497000-21500600	Strong transcription	Liver	Liver
8	chr14:21499600-21500600	Enhancers	K562	blood
9	chr14:21499600-21503400	Enhancers	Fetal Muscle Leg	muscle
10	chr14:21499800-21500600	Enhancers	Psoas Muscle	Psoas
11	chr14:21499800-21501000	Enhancers	Ovary	ovary
12	chr14:21499800-21501800	Enhancers	Brain Substantia Nigra	brain
13	chr14:21499800-21502800	Enhancers	Brain Hippocampus Middle	brain
14	chr14:21500000-21501200	Enhancers	Brain Anterior Caudate	brain
15	chr14:21500000-21501200	Enhancers	Esophagus	oesophagus
16	chr14:21500000-21501200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:21500200-21500600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:21500200-21501200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:21500200-21502000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:21500200-21503000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:21500400-21501600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:21500400-21505000	Weak transcription	Brain Angular Gyrus	brain

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