Variant report

Variant	rs56200314
Chromosome Location	chr6:44999595-44999596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55820649	0.88[AFR][1000 genomes]
rs55956116	0.81[AFR][1000 genomes]
rs56007545	0.88[AFR][1000 genomes]
rs56199424	0.88[AFR][1000 genomes]
rs56288515	0.88[AFR][1000 genomes]
rs56907075	0.88[AFR][1000 genomes]
rs57999007	1.00[AFR][1000 genomes]
rs58237919	0.88[AFR][1000 genomes]
rs59048925	0.88[AFR][1000 genomes]
rs59227402	0.88[AFR][1000 genomes]
rs59994313	0.88[AFR][1000 genomes]
rs73735260	0.88[AFR][1000 genomes]
rs73735264	0.88[AFR][1000 genomes]
rs73735269	0.88[AFR][1000 genomes]
rs73735272	1.00[AFR][1000 genomes]
rs73735273	1.00[AFR][1000 genomes]
rs73735288	1.00[AFR][1000 genomes]
rs73735289	0.88[AFR][1000 genomes]
rs73735299	0.88[AFR][1000 genomes]
rs73735301	0.88[AFR][1000 genomes]
rs73737814	0.88[AFR][1000 genomes]
rs73737820	0.88[AFR][1000 genomes]
rs73737824	0.88[AFR][1000 genomes]
rs73737829	1.00[AFR][1000 genomes]
rs73737832	1.00[AFR][1000 genomes]
rs73737854	1.00[AFR][1000 genomes]
rs73737861	1.00[AFR][1000 genomes]
rs73737868	1.00[AFR][1000 genomes]
rs73737874	1.00[AFR][1000 genomes]
rs73737875	1.00[AFR][1000 genomes]
rs73737879	1.00[AFR][1000 genomes]
rs73737884	1.00[AFR][1000 genomes]
rs73737889	1.00[AFR][1000 genomes]
rs73737897	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv603008	chr6:44958372-45081821	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv2762589	chr6:44982992-45044580	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1018962	chr6:44996714-45038038	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1024404	chr6:44996714-45039419	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44974800-45004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:44995200-44999600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:44995200-45004400	Weak transcription	Aorta	Aorta
4	chr6:44999200-45000000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr6:44999200-45001000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr6:44999400-45000800	Enhancers	Fetal Intestine Large	intestine

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