Variant report

Variant	rs527854976
Chromosome Location	chr22:30281130-30281131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30280125..30281940-chr22:30289079..30291294,2	MCF-7	breast:

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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv829161	chr22:30276811-30298332	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv829162	chr22:30276811-30298761	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv11554	chr22:30280400-30298271	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30278600-30281400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr22:30278800-30281200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30278800-30281200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr22:30278800-30281200	Active TSS	Stomach Smooth Muscle	stomach
5	chr22:30278800-30282200	Active TSS	GM12878-XiMat	blood
6	chr22:30279000-30281200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:30279600-30282400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr22:30279800-30281200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:30280000-30283400	Weak transcription	Esophagus	oesophagus
10	chr22:30280000-30283400	Weak transcription	Pancreas	Pancrea
11	chr22:30280000-30286200	Weak transcription	Gastric	stomach
12	chr22:30280200-30281200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr22:30280200-30281400	Enhancers	Primary B cells from peripheral blood	blood
14	chr22:30280200-30281800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr22:30280200-30281800	Enhancers	Placenta	Placenta
16	chr22:30280200-30282000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:30280200-30282200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr22:30280200-30282600	Enhancers	Colon Smooth Muscle	Colon
19	chr22:30280200-30282600	Enhancers	Fetal Brain Male	brain
20	chr22:30280200-30283800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:30280200-30283800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr22:30280200-30283800	Enhancers	Fetal Heart	heart
23	chr22:30280200-30283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr22:30280200-30284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr22:30280200-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
27	chr22:30280400-30281200	Enhancers	Brain Cingulate Gyrus	brain
28	chr22:30280400-30281200	Enhancers	Left Ventricle	heart
29	chr22:30280400-30281200	Weak transcription	Stomach Mucosa	stomach
30	chr22:30280400-30281600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:30280400-30281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:30280400-30281600	Weak transcription	HSMMtube	muscle
33	chr22:30280400-30281800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr22:30280400-30281800	Enhancers	Fetal Intestine Large	intestine
35	chr22:30280400-30282000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr22:30280400-30282200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr22:30280400-30282400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:30280400-30282400	Weak transcription	A549	lung
39	chr22:30280400-30282600	Enhancers	Brain Hippocampus Middle	brain
40	chr22:30280400-30282600	Enhancers	Small Intestine	intestine
41	chr22:30280400-30282800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr22:30280400-30283200	Weak transcription	Brain Angular Gyrus	brain
43	chr22:30280400-30283400	Weak transcription	Fetal Kidney	kidney
44	chr22:30280400-30283800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr22:30280400-30283800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr22:30280400-30283800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr22:30280400-30283800	Enhancers	Fetal Lung	lung
48	chr22:30280400-30284000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr22:30280400-30297400	Weak transcription	K562	blood
50	chr22:30280600-30281200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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