Variant report

Variant	rs186488551
Chromosome Location	chr22:30283339-30283340
allele	C/G
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	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
10	esv1825528	chr22:30282800-30295577	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280000-30283400	Weak transcription	Esophagus	oesophagus
2	chr22:30280000-30283400	Weak transcription	Pancreas	Pancrea
3	chr22:30280000-30286200	Weak transcription	Gastric	stomach
4	chr22:30280200-30283800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30280200-30283800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr22:30280200-30283800	Enhancers	Fetal Heart	heart
7	chr22:30280200-30283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr22:30280200-30284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr22:30280200-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
11	chr22:30280400-30283400	Weak transcription	Fetal Kidney	kidney
12	chr22:30280400-30283800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr22:30280400-30283800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:30280400-30283800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr22:30280400-30283800	Enhancers	Fetal Lung	lung
16	chr22:30280400-30284000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr22:30280400-30297400	Weak transcription	K562	blood
18	chr22:30280600-30284000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:30280800-30283600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:30280800-30283800	Enhancers	Adipose Nuclei	Adipose
21	chr22:30280800-30283800	Enhancers	Brain Germinal Matrix	brain
22	chr22:30280800-30291600	Weak transcription	Lung	lung
23	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr22:30281000-30284000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr22:30281000-30287600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:30281200-30283400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:30281200-30283400	Weak transcription	Left Ventricle	heart
30	chr22:30281200-30283800	Enhancers	Primary T cells from cord blood	blood
31	chr22:30281200-30283800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:30281200-30283800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
35	chr22:30281800-30283800	Enhancers	Brain Anterior Caudate	brain
36	chr22:30281800-30286200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
38	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr22:30282000-30283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr22:30282000-30283400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:30282000-30283400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:30282000-30283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:30282000-30283800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:30282000-30297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:30282200-30283400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:30282200-30283400	Weak transcription	Ovary	ovary
47	chr22:30282200-30283400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:30282200-30283600	Weak transcription	Psoas Muscle	Psoas
49	chr22:30282200-30283800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:30282200-30284800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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