Variant report

Variant	rs551265680
Chromosome Location	chr22:30722154-30722155
allele	-/CAGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30715065..30719307-chr22:30719404..30722412,5	K562	blood:
2	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
3	chr22:30720496..30722809-chr22:30723809..30726893,3	MCF-7	breast:
4	chr22:30692849..30696422-chr22:30721996..30724187,4	MCF-7	breast:
5	chr22:30641352..30643505-chr22:30721621..30724253,3	MCF-7	breast:
6	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
7	chr22:30710430..30716803-chr22:30717996..30724228,10	MCF-7	breast:
8	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
9	chr22:30721434..30723843-chr22:30737479..30740425,2	K562	blood:
10	chr22:30678847..30680505-chr22:30720237..30722502,2	MCF-7	breast:
11	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
12	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
13	chr22:30719392..30722349-chr22:30722422..30724349,2	K562	blood:
14	chr22:30722006..30724246-chr22:30752442..30754508,2	K562	blood:
15	chr22:30716894..30719257-chr22:30719729..30722601,2	MCF-7	breast:
16	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099992	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000128342	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000187860	Chromatin interaction

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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	esv3325406	chr22:30721477-30724325	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
8	esv3388243	chr22:30721827-30724050	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30719400-30722200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr22:30720000-30722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:30720000-30722200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:30720000-30722200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr22:30720000-30722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:30720000-30722200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:30720000-30722200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr22:30720000-30722200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr22:30720000-30722200	Flanking Active TSS	Osteobl	bone
10	chr22:30720000-30722400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr22:30720000-30722400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr22:30720000-30722400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr22:30720200-30722200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr22:30720200-30722200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr22:30720200-30722200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr22:30720200-30722200	Flanking Active TSS	Thymus	Thymus
17	chr22:30720200-30722400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr22:30720200-30722400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr22:30720200-30722400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr22:30720200-30722400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:30720400-30722200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr22:30720400-30722200	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr22:30720400-30722400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr22:30720400-30722600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr22:30720600-30722200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:30720600-30722200	Enhancers	Fetal Heart	heart
27	chr22:30720600-30722200	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr22:30720600-30722200	Flanking Active TSS	NH-A	brain
29	chr22:30720800-30722200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:30720800-30722200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:30720800-30722200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:30720800-30722200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr22:30720800-30722200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr22:30720800-30722200	Flanking Active TSS	Placenta	Placenta
35	chr22:30720800-30722400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr22:30720800-30722400	Flanking Active TSS	Liver	Liver
37	chr22:30720800-30722400	Flanking Active TSS	Colonic Mucosa	Colon
38	chr22:30720800-30722400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr22:30720800-30722400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr22:30721000-30722200	Flanking Active TSS	A549	lung
41	chr22:30721000-30722200	Flanking Active TSS	HMEC	breast
42	chr22:30721000-30722400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr22:30721000-30722400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr22:30721000-30722400	Flanking Active TSS	Fetal Brain Female	brain
45	chr22:30721000-30722400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr22:30721000-30723200	Active TSS	Psoas Muscle	Psoas
47	chr22:30721000-30723400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr22:30721000-30723600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr22:30721200-30722200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:30721200-30722200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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