Variant report

rSNPs within LD-proxies of this variant (count:13)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

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Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30546200-30549800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30546200-30554800	Weak transcription	Spleen	Spleen
3	chr2:30546400-30549000	Enhancers	Fetal Thymus	thymus
4	chr2:30546400-30549400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:30546600-30549800	Enhancers	Primary B cells from cord blood	blood
6	chr2:30546800-30549000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:30547600-30554000	Weak transcription	Esophagus	oesophagus
8	chr2:30548200-30549400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:30548400-30549000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:30548400-30550400	Enhancers	GM12878-XiMat	blood
11	chr2:30548600-30549000	Enhancers	Primary T cells from cord blood	blood
12	chr2:30548600-30549000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:30548600-30549000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:30548600-30549000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:30548600-30549000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:30548600-30549200	Enhancers	Thymus	Thymus
17	chr2:30548600-30549400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:30548600-30549600	Enhancers	Stomach Mucosa	stomach
19	chr2:30548800-30549000	Enhancers	HSMMtube	muscle
20	chr2:30548800-30554000	Weak transcription	Fetal Heart	heart

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