Variant report

Variant	rs566004538
Chromosome Location	chr2:100103465-100103466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100011720..100013891-chr2:100102274..100104165,2	K562	blood:
2	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
3	chr2:99952384..99954745-chr2:100101155..100103970,2	K562	blood:
4	chr2:99796371..99799059-chr2:100100777..100103682,2	MCF-7	breast:
5	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
6	chr2:100045644..100048567-chr2:100103283..100105124,2	K562	blood:

Variant related genes	Relation type
ENSG00000158417	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000241962	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1811477	chr2:100089078-100105013	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv1810220	chr2:100094799-100105013	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3457028	chr2:100101720-100107018	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
8	esv3487602	chr2:100102570-100106918	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	esv2555492	chr2:100102701-100105388	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3457027	chr2:100103045-100105893	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv3457029	chr2:100103118-100105501	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv3457031	chr2:100103350-100105315	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:100076600-100104200	Weak transcription	NHLF	lung
3	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:100092600-100103600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:100092600-100104200	Weak transcription	Osteobl	bone
8	chr2:100092800-100103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:100092800-100104600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:100092800-100105000	Weak transcription	Placenta	Placenta
11	chr2:100094800-100104800	Weak transcription	Colonic Mucosa	Colon
12	chr2:100095600-100103600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:100095600-100103600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:100097200-100104000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:100097200-100104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:100097200-100105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:100098600-100105200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:100098600-100105200	Weak transcription	Gastric	stomach
19	chr2:100098800-100104800	Weak transcription	Spleen	Spleen
20	chr2:100098800-100105000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:100098800-100105200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:100099000-100103600	Weak transcription	Primary T cells from cord blood	blood
23	chr2:100099000-100103800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:100099000-100105000	Weak transcription	Pancreas	Pancrea
25	chr2:100099200-100103600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:100099800-100103600	Enhancers	HMEC	breast
27	chr2:100099800-100103800	Enhancers	Fetal Heart	heart
28	chr2:100100200-100103800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:100100800-100105000	Weak transcription	Esophagus	oesophagus
30	chr2:100101000-100103800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:100101000-100105000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:100101200-100105000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:100101600-100105000	Weak transcription	Brain Angular Gyrus	brain
34	chr2:100101800-100104200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:100102000-100103600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:100102000-100103800	Enhancers	Left Ventricle	heart
37	chr2:100102200-100103600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:100102200-100103800	Enhancers	Fetal Thymus	thymus
39	chr2:100102200-100104200	Weak transcription	Fetal Lung	lung
40	chr2:100102200-100105000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:100102400-100103800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:100102400-100103800	Enhancers	Ovary	ovary
43	chr2:100102400-100104000	Weak transcription	Fetal Brain Male	brain
44	chr2:100102400-100104200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:100102400-100104200	Active TSS	GM12878-XiMat	blood
46	chr2:100102400-100104800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:100102400-100105000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:100102400-100105000	Enhancers	Colon Smooth Muscle	Colon
49	chr2:100102600-100103600	Weak transcription	Right Atrium	heart
50	chr2:100102600-100105000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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