Variant report

Variant	rs562169817
Chromosome Location	chr22:30334244-30334245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30311800-30340400	Weak transcription	HSMM	muscle
3	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
5	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
7	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:30321400-30339800	Weak transcription	Lung	lung
9	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
11	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr22:30330600-30339400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:30331200-30334800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:30331600-30336600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr22:30331600-30339800	Weak transcription	Ovary	ovary
18	chr22:30332000-30342200	Weak transcription	Gastric	stomach
19	chr22:30332400-30337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:30332600-30334400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr22:30332600-30335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:30332600-30336600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:30332600-30337000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr22:30332600-30339800	Weak transcription	Left Ventricle	heart
25	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
26	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:30332800-30334600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:30332800-30340200	Weak transcription	Stomach Mucosa	stomach
29	chr22:30332800-30341000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:30332800-30343800	Weak transcription	Adipose Nuclei	Adipose
31	chr22:30333200-30334800	Enhancers	Primary B cells from cord blood	blood
32	chr22:30333400-30334800	Enhancers	Primary B cells from peripheral blood	blood
33	chr22:30333600-30343600	Weak transcription	Brain Anterior Caudate	brain
34	chr22:30333800-30334400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr22:30333800-30334400	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr22:30333800-30334600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr22:30333800-30334800	Flanking Active TSS	GM12878-XiMat	blood
38	chr22:30334000-30334400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:30334000-30334400	Enhancers	Brain Hippocampus Middle	brain
40	chr22:30334000-30334400	Enhancers	A549	lung
41	chr22:30334000-30334400	Flanking Active TSS	K562	blood
42	chr22:30334000-30334600	Enhancers	Psoas Muscle	Psoas
43	chr22:30334000-30334600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr22:30334200-30334600	Enhancers	Brain Cingulate Gyrus	brain
45	chr22:30334200-30335600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30334200-30336600	Weak transcription	Brain Substantia Nigra	brain
47	chr22:30334200-30337400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:30334200-30341000	Weak transcription	Right Atrium	heart
49	chr22:30334200-30374800	Weak transcription	Thymus	Thymus

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