Variant report

Variant	rs940450
Chromosome Location	chr7:150142622-150142623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10266063	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10269285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28535865	1.00[AMR][1000 genomes]
rs28556649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28710951	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726104	1.00[AMR][1000 genomes]
rs73728121	1.00[AMR][1000 genomes]
rs7784480	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150126600-150148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:150131400-150147600	Weak transcription	Colonic Mucosa	Colon
3	chr7:150139400-150146000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:150140000-150144200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:150140200-150143000	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:150140600-150144200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:150140600-150147600	Enhancers	Fetal Thymus	thymus
8	chr7:150141800-150142800	Enhancers	Fetal Muscle Leg	muscle
9	chr7:150141800-150144600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:150142000-150145600	Enhancers	Dnd41	blood
11	chr7:150142200-150145200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr7:150142400-150142800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr7:150142400-150143200	Strong transcription	GM12878-XiMat	blood
14	chr7:150142400-150143600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:150142400-150143800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:150142400-150143800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:150142600-150143200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:150142600-150145600	Weak transcription	Primary B cells from cord blood	blood
19	chr7:150142600-150145600	Weak transcription	Spleen	Spleen

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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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