Variant report

Variant	rs2100596
Chromosome Location	chr7:50325784-50325785
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2366034	0.92[ASN][1000 genomes]
rs55957767	0.82[AMR][1000 genomes]
rs61198215	0.92[ASN][1000 genomes]
rs716719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50320400-50326200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:50320800-50325800	Enhancers	Primary hematopoietic stem cells	blood
3	chr7:50322000-50326000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:50322000-50326400	Enhancers	Primary B cells from cord blood	blood
5	chr7:50322000-50326400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:50322000-50326600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:50322400-50326400	Enhancers	Primary B cells from peripheral blood	blood
8	chr7:50323400-50325800	Enhancers	K562	blood
9	chr7:50323400-50325800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:50323400-50327600	Enhancers	GM12878-XiMat	blood
11	chr7:50325000-50332200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:50325000-50340000	Weak transcription	Thymus	Thymus
13	chr7:50325600-50325800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:50325600-50326600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:50325600-50331600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:50325600-50332800	Weak transcription	Primary T killer naive cells fromperipheralblood	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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