Variant report

Variant	rs572489853
Chromosome Location	chr2:100103660-100103661
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
4	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
5	chr2:99952384..99954745-chr2:100101155..100103970,2	K562	blood:
6	chr2:99796371..99799059-chr2:100100777..100103682,2	MCF-7	breast:
7	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
8	chr2:100045644..100048567-chr2:100103283..100105124,2	K562	blood:

No data

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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
13	nsv821279	chr2:100103534-100105532	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv829580	chr2:100103534-100105532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	esv2052109	chr2:100103541-100105185	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv511799	chr2:100103603-100105064	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
17	esv3457025	chr2:100103606-100105112	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	esv3487603	chr2:100103611-100105038	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
19	esv3487605	chr2:100103613-100105121	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	esv3487601	chr2:100103627-100105069	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	esv3457032	chr2:100103637-100105103	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
22	esv3457026	chr2:100103641-100105099	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
23	esv3457033	chr2:100103647-100105059	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
24	esv3487604	chr2:100103661-100105082	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 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	chr2:100092600-100104200	Weak transcription	Osteobl	bone
7	chr2:100092800-100104600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:100092800-100105000	Weak transcription	Placenta	Placenta
9	chr2:100094800-100104800	Weak transcription	Colonic Mucosa	Colon
10	chr2:100097200-100104000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:100097200-100104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:100097200-100105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:100098600-100105200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100098600-100105200	Weak transcription	Gastric	stomach
15	chr2:100098800-100104800	Weak transcription	Spleen	Spleen
16	chr2:100098800-100105000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:100098800-100105200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:100099000-100103800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:100099000-100105000	Weak transcription	Pancreas	Pancrea
20	chr2:100099800-100103800	Enhancers	Fetal Heart	heart
21	chr2:100100200-100103800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:100100800-100105000	Weak transcription	Esophagus	oesophagus
23	chr2:100101000-100103800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:100101000-100105000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:100101200-100105000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:100101600-100105000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:100101800-100104200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:100102000-100103800	Enhancers	Left Ventricle	heart
29	chr2:100102200-100103800	Enhancers	Fetal Thymus	thymus
30	chr2:100102200-100104200	Weak transcription	Fetal Lung	lung
31	chr2:100102200-100105000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:100102400-100103800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:100102400-100103800	Enhancers	Ovary	ovary
34	chr2:100102400-100104000	Weak transcription	Fetal Brain Male	brain
35	chr2:100102400-100104200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:100102400-100104200	Active TSS	GM12878-XiMat	blood
37	chr2:100102400-100104800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:100102400-100105000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:100102400-100105000	Enhancers	Colon Smooth Muscle	Colon
40	chr2:100102600-100105000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:100102600-100105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:100102600-100105000	Weak transcription	Lung	lung
43	chr2:100102800-100104800	Enhancers	Liver	Liver
44	chr2:100103000-100103800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:100103000-100103800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:100103000-100103800	Enhancers	Primary B cells from cord blood	blood
47	chr2:100103000-100103800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:100103000-100103800	Flanking Active TSS	Hela-S3	cervix
49	chr2:100103000-100103800	Flanking Active TSS	NHEK	skin
50	chr2:100103000-100104000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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