Variant report

Variant	rs187208473
Chromosome Location	chr22:30283512-30283513
allele	A/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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280000-30286200	Weak transcription	Gastric	stomach
2	chr22:30280200-30283800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:30280200-30283800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr22:30280200-30283800	Enhancers	Fetal Heart	heart
5	chr22:30280200-30283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr22:30280200-30284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr22:30280200-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
9	chr22:30280400-30283800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr22:30280400-30283800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:30280400-30283800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr22:30280400-30283800	Enhancers	Fetal Lung	lung
13	chr22:30280400-30284000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr22:30280400-30297400	Weak transcription	K562	blood
15	chr22:30280600-30284000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:30280800-30283600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:30280800-30283800	Enhancers	Adipose Nuclei	Adipose
18	chr22:30280800-30283800	Enhancers	Brain Germinal Matrix	brain
19	chr22:30280800-30291600	Weak transcription	Lung	lung
20	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr22:30281000-30284000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr22:30281000-30287600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:30281200-30283800	Enhancers	Primary T cells from cord blood	blood
26	chr22:30281200-30283800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:30281200-30283800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
30	chr22:30281800-30283800	Enhancers	Brain Anterior Caudate	brain
31	chr22:30281800-30286200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
33	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:30282000-30283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:30282000-30283800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr22:30282000-30297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:30282200-30283600	Weak transcription	Psoas Muscle	Psoas
38	chr22:30282200-30283800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:30282200-30284800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr22:30282200-30286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:30282200-30287600	Weak transcription	Right Atrium	heart
42	chr22:30282200-30290400	Weak transcription	Fetal Stomach	stomach
43	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr22:30282400-30283800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr22:30282600-30283600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:30282600-30284600	Enhancers	Fetal Brain Female	brain
49	chr22:30282600-30290200	Weak transcription	Fetal Brain Male	brain
50	chr22:30282600-30300000	Weak transcription	Small Intestine	intestine

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