Variant report

Variant	rs41285498
Chromosome Location	chr14:33204825-33204826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr14:33204700-33205024	H1-hESC	embryonic stem cell:	n/a	chr14:33204916-33204927

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33201447..33204366-chr14:33204778..33206779,2	MCF-7	breast:

Variant related genes	Relation type
AKAP6	TF binding region
ENSG00000151320	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10131793	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1013682	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1295912	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17440692	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17440720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2300831	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2300832	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2300834	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2300837	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2474642	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4981999	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4982001	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982002	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73266957	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73266980	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832765	chr14:33188170-33367348	Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:33192400-33207200	Weak transcription	Left Ventricle	heart
2	chr14:33194600-33225600	Weak transcription	Aorta	Aorta
3	chr14:33194800-33222200	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:33195200-33205600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:33195200-33209200	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:33196200-33208000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:33198600-33214800	Weak transcription	Right Ventricle	heart
8	chr14:33199000-33218000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:33199400-33205400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:33200800-33205000	Weak transcription	Fetal Brain Female	brain
11	chr14:33202600-33205200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:33202600-33206000	Weak transcription	Brain Anterior Caudate	brain
13	chr14:33202600-33228800	Weak transcription	Brain Angular Gyrus	brain
14	chr14:33203000-33205200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:33203200-33205800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:33203400-33207600	Strong transcription	HSMMtube	muscle
17	chr14:33203600-33206800	Weak transcription	Brain Germinal Matrix	brain
18	chr14:33203600-33220600	Weak transcription	Brain Substantia Nigra	brain
19	chr14:33204400-33205000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:33204600-33205200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:33204600-33205600	Enhancers	Fetal Heart	heart
22	chr14:33204800-33205000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:33204800-33205200	Strong transcription	Brain Cingulate Gyrus	brain

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