Variant report

Variant	rs184819511
Chromosome Location	chr22:30333872-30333873
allele	A/T
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:50 , 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	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr22:30321400-30339800	Weak transcription	Lung	lung
11	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
14	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr22:30330600-30339400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:30331200-30334800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:30331600-30336600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:30331600-30339800	Weak transcription	Ovary	ovary
21	chr22:30332000-30342200	Weak transcription	Gastric	stomach
22	chr22:30332400-30337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:30332600-30334000	Weak transcription	Psoas Muscle	Psoas
24	chr22:30332600-30334000	Weak transcription	A549	lung
25	chr22:30332600-30334400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:30332600-30335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:30332600-30336600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:30332600-30337000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr22:30332600-30339800	Weak transcription	Left Ventricle	heart
30	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
31	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:30332800-30334000	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:30332800-30334600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:30332800-30340200	Weak transcription	Stomach Mucosa	stomach
35	chr22:30332800-30341000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr22:30332800-30343800	Weak transcription	Adipose Nuclei	Adipose
37	chr22:30333200-30334800	Enhancers	Primary B cells from cord blood	blood
38	chr22:30333400-30334800	Enhancers	Primary B cells from peripheral blood	blood
39	chr22:30333600-30343600	Weak transcription	Brain Anterior Caudate	brain
40	chr22:30333800-30334000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:30333800-30334000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:30333800-30334000	Enhancers	K562	blood
43	chr22:30333800-30334200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr22:30333800-30334200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr22:30333800-30334200	Enhancers	Brain Substantia Nigra	brain
46	chr22:30333800-30334200	Enhancers	Right Atrium	heart
47	chr22:30333800-30334400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr22:30333800-30334400	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr22:30333800-30334600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr22:30333800-30334800	Flanking Active TSS	GM12878-XiMat	blood

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