Variant report

Variant	rs527398547
Chromosome Location	chr2:234934235-234934236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv584711	chr2:234934186-234945105	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234931800-234938200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:234933000-234934800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:234933000-234935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:234933200-234934400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:234933600-234934400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:234933600-234935200	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:234933600-234936800	Enhancers	Primary T cells from cord blood	blood
8	chr2:234933600-234937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:234933800-234934400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:234933800-234934800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr2:234933800-234934800	Enhancers	GM12878-XiMat	blood
12	chr2:234933800-234935000	Enhancers	Primary B cells from cord blood	blood
13	chr2:234934000-234934400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:234934000-234934400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:234934000-234934400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:234934000-234934400	Active TSS	Osteobl	bone
17	chr2:234934000-234934600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:234934000-234934600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr2:234934000-234934600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:234934000-234934600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:234934000-234934600	Active TSS	Liver	Liver
22	chr2:234934000-234934600	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:234934000-234934600	Active TSS	Brain Hippocampus Middle	brain
24	chr2:234934000-234934600	Active TSS	Brain Substantia Nigra	brain
25	chr2:234934000-234934600	Active TSS	Fetal Kidney	kidney
26	chr2:234934000-234934600	Active TSS	NHDF-Ad	bronchial
27	chr2:234934000-234934800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:234934000-234934800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:234934000-234934800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:234934000-234934800	Active TSS	Duodenum Mucosa	Duodenum
31	chr2:234934000-234934800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:234934000-234934800	Active TSS	Rectal Smooth Muscle	rectum
33	chr2:234934000-234935000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:234934200-234934400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:234934200-234934400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:234934200-234934400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:234934200-234934400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:234934200-234934400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:234934200-234934400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:234934200-234934400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:234934200-234934400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr2:234934200-234934400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:234934200-234934400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:234934200-234934400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:234934200-234934400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:234934200-234934400	Active TSS	Thymus	Thymus
47	chr2:234934200-234934400	Active TSS	HMEC	breast
48	chr2:234934200-234934400	Enhancers	NH-A	brain
49	chr2:234934200-234934400	Active TSS	NHEK	skin
50	chr2:234934200-234934400	Enhancers	NHLF	lung

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