Variant report

Variant	rs548528591
Chromosome Location	chr22:22132211-22132212
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22131249..22133599-chr22:22302494..22304586,2	K562	blood:
2	chr22:22130737..22132240-chr22:22289657..22292393,2	K562	blood:
3	chr22:22131679..22133826-chr22:22219221..22222634,3	K562	blood:
4	chr22:22130696..22132847-chr22:22280604..22282994,2	K562	blood:
5	chr22:22128103..22132629-chr22:22289657..22294176,6	K562	blood:
6	chr22:22132180..22135063-chr22:22179852..22181506,2	K562	blood:
7	chr22:22130567..22133549-chr22:22209125..22210877,2	K562	blood:
8	chr22:22131580..22133092-chr22:22219677..22221609,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224086	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
14	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
2	chr22:22112400-22136800	Strong transcription	Dnd41	blood
3	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
4	chr22:22113600-22133200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:22116000-22132800	Strong transcription	K562	blood
7	chr22:22118800-22133400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:22123200-22133600	Strong transcription	Thymus	Thymus
10	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
11	chr22:22127000-22139200	Weak transcription	Stomach Mucosa	stomach
12	chr22:22127200-22133000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:22127200-22134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:22127200-22136200	Weak transcription	Pancreas	Pancrea
15	chr22:22127200-22138400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:22127200-22141000	Weak transcription	Aorta	Aorta
17	chr22:22127200-22142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr22:22127200-22145200	Weak transcription	Small Intestine	intestine
19	chr22:22127200-22146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
21	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
22	chr22:22127400-22133000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:22127400-22133600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr22:22127400-22134600	Weak transcription	Fetal Brain Male	brain
25	chr22:22127400-22137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:22127400-22137800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:22127400-22138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr22:22127400-22139000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr22:22127400-22141600	Weak transcription	Colonic Mucosa	Colon
30	chr22:22127400-22145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:22127400-22146000	Weak transcription	A549	lung
32	chr22:22127600-22133600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr22:22127600-22136000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr22:22127600-22136400	Weak transcription	Esophagus	oesophagus
35	chr22:22128200-22136000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr22:22128600-22133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:22128600-22133000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:22128600-22133000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr22:22128600-22133000	Weak transcription	GM12878-XiMat	blood
40	chr22:22128600-22136000	Weak transcription	Gastric	stomach
41	chr22:22128600-22138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:22128600-22139000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr22:22129600-22133000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr22:22129600-22133000	Weak transcription	NH-A	brain
46	chr22:22129600-22133200	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:22129600-22151200	Weak transcription	Colon Smooth Muscle	Colon
48	chr22:22129800-22132400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:22129800-22133000	Weak transcription	Fetal Brain Female	brain
50	chr22:22129800-22134400	Weak transcription	Brain Substantia Nigra	brain

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