Variant report

Variant	rs545319599
Chromosome Location	chr22:30722275-30722276
allele	A/G
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
ENSG00000128342	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000248751	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30720000-30722400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr22:30720000-30722400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:30720000-30722400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr22:30720200-30722400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr22:30720200-30722400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr22:30720200-30722400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr22:30720200-30722400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:30720400-30722400	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr22:30720400-30722600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr22:30720800-30722400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr22:30720800-30722400	Flanking Active TSS	Liver	Liver
12	chr22:30720800-30722400	Flanking Active TSS	Colonic Mucosa	Colon
13	chr22:30720800-30722400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr22:30720800-30722400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr22:30721000-30722400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr22:30721000-30722400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr22:30721000-30722400	Flanking Active TSS	Fetal Brain Female	brain
18	chr22:30721000-30722400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr22:30721000-30723200	Active TSS	Psoas Muscle	Psoas
20	chr22:30721000-30723400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr22:30721000-30723600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr22:30721200-30722400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:30721400-30722400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:30721400-30722400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:30721400-30722400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr22:30721400-30722400	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr22:30721400-30722400	Flanking Active TSS	Fetal Thymus	thymus
28	chr22:30721400-30722400	Flanking Active TSS	Left Ventricle	heart
29	chr22:30721400-30722400	Flanking Active TSS	Right Ventricle	heart
30	chr22:30721400-30722400	Flanking Active TSS	Hela-S3	cervix
31	chr22:30721400-30722800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
32	chr22:30721400-30722800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:30721600-30722400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:30721600-30722400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr22:30721600-30722400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr22:30721600-30722400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:30721600-30723200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr22:30721600-30723200	Active TSS	HSMMtube	muscle
39	chr22:30721600-30723400	Active TSS	Aorta	Aorta
40	chr22:30721600-30723400	Active TSS	Esophagus	oesophagus
41	chr22:30721800-30722400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr22:30721800-30722400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:30721800-30722400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:30721800-30722400	Flanking Active TSS	Fetal Brain Male	brain
45	chr22:30721800-30722400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr22:30721800-30723200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr22:30721800-30723200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr22:30721800-30723200	Active TSS	Brain Angular Gyrus	brain
49	chr22:30721800-30723400	Active TSS	Fetal Kidney	kidney
50	chr22:30721800-30723600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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