Variant report

Variant	rs56288515
Chromosome Location	chr6:44914904-44914905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs55820649	1.00[AFR][1000 genomes]
rs55956116	0.94[AFR][1000 genomes]
rs56007545	1.00[AFR][1000 genomes]
rs56199424	1.00[AFR][1000 genomes]
rs56200314	0.88[AFR][1000 genomes]
rs56907075	1.00[AFR][1000 genomes]
rs57999007	0.88[AFR][1000 genomes]
rs58237919	1.00[AFR][1000 genomes]
rs59048925	1.00[AFR][1000 genomes]
rs59227402	1.00[AFR][1000 genomes]
rs59994313	1.00[AFR][1000 genomes]
rs73735260	1.00[AFR][1000 genomes]
rs73735264	1.00[AFR][1000 genomes]
rs73735269	1.00[AFR][1000 genomes]
rs73735272	0.88[AFR][1000 genomes]
rs73735273	0.88[AFR][1000 genomes]
rs73735288	0.88[AFR][1000 genomes]
rs73735289	1.00[AFR][1000 genomes]
rs73735299	1.00[AFR][1000 genomes]
rs73735301	1.00[AFR][1000 genomes]
rs73737814	1.00[AFR][1000 genomes]
rs73737818	0.87[AFR][1000 genomes]
rs73737820	1.00[AFR][1000 genomes]
rs73737824	1.00[AFR][1000 genomes]
rs73737829	0.88[AFR][1000 genomes]
rs73737832	0.88[AFR][1000 genomes]
rs73737854	0.88[AFR][1000 genomes]
rs73737861	0.88[AFR][1000 genomes]
rs73737868	0.88[AFR][1000 genomes]
rs73737874	0.88[AFR][1000 genomes]
rs73737875	0.88[AFR][1000 genomes]
rs73737879	0.88[AFR][1000 genomes]
rs73737884	0.88[AFR][1000 genomes]
rs73737889	0.88[AFR][1000 genomes]
rs73737897	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033815	chr6:44845514-44938799	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv462938	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv470817	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv603007	chr6:44909515-45008779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44904400-44918800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:44913400-44915000	ZNF genes & repeats	Dnd41	blood
3	chr6:44913400-44930000	Weak transcription	Pancreas	Pancrea
4	chr6:44913600-44928600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:44913800-44918200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:44914000-44922800	Weak transcription	HSMM	muscle
7	chr6:44914400-44915000	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:44914400-44919200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:44914600-44915200	Strong transcription	Fetal Heart	heart
10	chr6:44914600-44917200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:44914600-44923000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:44914800-44917000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:44914800-44919200	Weak transcription	Aorta	Aorta

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