Variant report

Variant	rs56807482
Chromosome Location	chr7:13096812-13096813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55889695	1.00[AFR][1000 genomes]
rs73678975	1.00[AFR][1000 genomes]
rs73678976	1.00[AFR][1000 genomes]
rs73678977	1.00[AFR][1000 genomes]
rs73678978	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv887643	chr7:13086613-13211263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1027572	chr7:13093204-13130069	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029105	chr7:13093939-13123408	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1026055	chr7:13093939-13130069	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1016921	chr7:13093939-13130645	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1026551	chr7:13093939-13130746	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13090200-13102600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13091000-13097000	Weak transcription	K562	blood
3	chr7:13091600-13097200	Weak transcription	A549	lung
4	chr7:13094800-13097000	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:13095000-13103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:13095200-13097800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:13095400-13097000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:13096000-13097000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:13096000-13097000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:13096000-13097000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:13096000-13097200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:13096000-13097200	Weak transcription	Spleen	Spleen
13	chr7:13096200-13097400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:13096400-13097200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr7:13096600-13097000	Enhancers	GM12878-XiMat	blood
16	chr7:13096800-13097600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:13096800-13097800	Flanking Active TSS	HUVEC	blood vessel
18	chr7:13096800-13098000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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