Variant report

Variant	rs375127290
Chromosome Location	chr2:234933991-234933992
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv460138	chr2:234933559-234944043	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv584709	chr2:234933559-234944043	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv522778	chr2:234933630-234944043	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv524821	chr2:234933630-234944043	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv470524	chr2:234933630-234944043	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv584710	chr2:234933630-234945670	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234931800-234934000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:234931800-234938200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:234933000-234934000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:234933000-234934200	Enhancers	Fetal Brain Male	brain
5	chr2:234933000-234934800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:234933000-234935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:234933200-234934400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:234933400-234934000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:234933400-234934000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:234933400-234934000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:234933600-234934000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:234933600-234934000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:234933600-234934000	Enhancers	Liver	Liver
14	chr2:234933600-234934000	Enhancers	Fetal Brain Female	brain
15	chr2:234933600-234934200	Flanking Active TSS	NHEK	skin
16	chr2:234933600-234934400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:234933600-234935200	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:234933600-234936800	Enhancers	Primary T cells from cord blood	blood
19	chr2:234933600-234937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:234933800-234934000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:234933800-234934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:234933800-234934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:234933800-234934000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:234933800-234934000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:234933800-234934000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:234933800-234934000	Enhancers	Brain Hippocampus Middle	brain
27	chr2:234933800-234934000	Enhancers	Thymus	Thymus
28	chr2:234933800-234934000	Enhancers	NHLF	lung
29	chr2:234933800-234934200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:234933800-234934200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr2:234933800-234934200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr2:234933800-234934200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr2:234933800-234934400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:234933800-234934800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr2:234933800-234934800	Enhancers	GM12878-XiMat	blood
36	chr2:234933800-234935000	Enhancers	Primary B cells from cord blood	blood

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