Variant report

Variant	rs2300830
Chromosome Location	chr14:33203525-33203526
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	chr14:33201447..33204366-chr14:33204778..33206779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151320	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10149509	0.83[CHD][hapmap]
rs1028538	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17099489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2239646	0.82[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2300833	0.86[CHD][hapmap]
rs3784209	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58036433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58972912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61693948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7140269	0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7157733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs927061	1.00[CEU][hapmap]
rs981524	0.83[CHD][hapmap]

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:21 , 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	chr14:33195000-33204600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:33195200-33205600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:33195200-33209200	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:33196200-33208000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:33198600-33214800	Weak transcription	Right Ventricle	heart
9	chr14:33199000-33218000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:33199400-33205400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:33200800-33204600	Weak transcription	Fetal Heart	heart
12	chr14:33200800-33205000	Weak transcription	Fetal Brain Female	brain
13	chr14:33201000-33204800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:33202600-33205200	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:33202600-33206000	Weak transcription	Brain Anterior Caudate	brain
16	chr14:33202600-33228800	Weak transcription	Brain Angular Gyrus	brain
17	chr14:33203000-33205200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:33203200-33205800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:33203400-33203600	Enhancers	Brain Germinal Matrix	brain
20	chr14:33203400-33203600	Enhancers	Brain Substantia Nigra	brain
21	chr14:33203400-33207600	Strong transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links