Variant report

Variant	rs561244490
Chromosome Location	chr22:30721812-30721813
allele	G/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr22:30641352..30643505-chr22:30721621..30724253,3	MCF-7	breast:
5	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
6	chr22:30715065..30718690-chr22:30719404..30722127,4	K562	blood:
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	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
12	chr22:30719392..30722349-chr22:30722422..30724349,2	K562	blood:
13	chr22:30716894..30719257-chr22:30719729..30722601,2	MCF-7	breast:
14	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:124 , 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	chr22:30720000-30722000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr22:30720000-30722000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr22:30720000-30722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:30720000-30722200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30720000-30722200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr22:30720000-30722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:30720000-30722200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:30720000-30722200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr22:30720000-30722200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr22:30720000-30722200	Flanking Active TSS	Osteobl	bone
12	chr22:30720000-30722400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr22:30720000-30722400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:30720000-30722400	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr22:30720200-30722000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:30720200-30722000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:30720200-30722000	Flanking Active TSS	GM12878-XiMat	blood
18	chr22:30720200-30722200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr22:30720200-30722200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr22:30720200-30722200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr22:30720200-30722200	Flanking Active TSS	Thymus	Thymus
22	chr22:30720200-30722400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr22:30720200-30722400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr22:30720200-30722400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr22:30720200-30722400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:30720400-30722000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:30720400-30722000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:30720400-30722000	Flanking Active TSS	NHLF	lung
29	chr22:30720400-30722200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr22:30720400-30722200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr22:30720400-30722400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr22:30720400-30722600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr22:30720600-30722000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr22:30720600-30722000	Flanking Active TSS	HSMM	muscle
35	chr22:30720600-30722000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr22:30720600-30722200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:30720600-30722200	Enhancers	Fetal Heart	heart
38	chr22:30720600-30722200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr22:30720600-30722200	Flanking Active TSS	NH-A	brain
40	chr22:30720800-30722000	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr22:30720800-30722000	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr22:30720800-30722000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr22:30720800-30722000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:30720800-30722200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:30720800-30722200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:30720800-30722200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:30720800-30722200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr22:30720800-30722200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr22:30720800-30722200	Flanking Active TSS	Placenta	Placenta
50	chr22:30720800-30722400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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