Variant report

Variant	rs372201504
Chromosome Location	chr22:22024965-22024966
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:22024800-22025608	K562	blood:	n/a	n/a
2	POLR2A	chr22:22024852-22025689	K562	blood:	n/a	n/a
3	STAT5A	chr22:22024485-22025128	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22019315..22021619-chr22:22023788..22025328,2	MCF-7	breast:
2	chr22:21994969..21997353-chr22:22024513..22026345,2	MCF-7	breast:
3	chr22:22022905..22026953-chr22:22292276..22294623,3	K562	blood:
4	chr22:22024787..22025715-chr22:22292164..22292828,2	K562	blood:

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000100023	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000128228	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	374 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
9	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	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
12	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
13	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
14	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
15	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22021200-22025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:22021200-22025000	Weak transcription	Aorta	Aorta
3	chr22:22021200-22025200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:22021400-22025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:22021400-22025000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:22021400-22025000	Weak transcription	Colonic Mucosa	Colon
7	chr22:22021400-22025000	Weak transcription	Gastric	stomach
8	chr22:22021400-22025000	Weak transcription	Right Ventricle	heart
9	chr22:22021400-22025000	Weak transcription	Small Intestine	intestine
10	chr22:22021400-22025200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:22021400-22025400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:22021400-22025400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:22021400-22025600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:22021400-22026200	Weak transcription	Fetal Kidney	kidney
15	chr22:22021400-22026400	Weak transcription	Psoas Muscle	Psoas
16	chr22:22021400-22032000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:22021400-22035200	Weak transcription	Stomach Mucosa	stomach
18	chr22:22021400-22036600	Weak transcription	A549	lung
19	chr22:22021600-22025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:22021600-22025200	Weak transcription	Fetal Lung	lung
21	chr22:22021800-22025000	Weak transcription	Pancreas	Pancrea
22	chr22:22022000-22025000	Weak transcription	Hela-S3	cervix
23	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
24	chr22:22022200-22030600	Strong transcription	Fetal Stomach	stomach
25	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:22022600-22025000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr22:22023400-22025000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:22023400-22025200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:22023400-22030600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:22023400-22030600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr22:22023400-22030600	Strong transcription	Fetal Muscle Leg	muscle
32	chr22:22023400-22030800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:22023400-22031000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:22023400-22031200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr22:22023400-22032400	Strong transcription	Lung	lung
36	chr22:22023400-22034000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:22023600-22026200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr22:22023600-22026200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr22:22023600-22028400	Strong transcription	HepG2	liver
40	chr22:22023600-22029400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:22023600-22030000	Strong transcription	Fetal Thymus	thymus
42	chr22:22023600-22030400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr22:22023600-22030400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr22:22023600-22030400	Strong transcription	Primary B cells from cord blood	blood
45	chr22:22023600-22030400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr22:22023600-22030400	Strong transcription	Brain Cingulate Gyrus	brain
47	chr22:22023600-22030600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr22:22023600-22030600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:22023600-22030600	Strong transcription	Adipose Nuclei	Adipose
50	chr22:22023600-22030600	Strong transcription	Fetal Muscle Trunk	muscle

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