Variant report

Variant	rs375829286
Chromosome Location	chr22:22089584-22089585
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
2	chr22:22088558..22091426-chr22:22293514..22295248,2	K562	blood:
3	chr22:22076308..22077911-chr22:22088836..22091303,2	MCF-7	breast:
4	chr22:22089287..22091003-chr22:22220400..22222429,2	MCF-7	breast:
5	chr22:22026397..22028078-chr22:22088852..22091514,2	MCF-7	breast:
6	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:
7	chr22:22088248..22093129-chr22:22216287..22223699,14	K562	blood:
8	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
9	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
10	chr22:22019700..22022032-chr22:22088092..22090057,3	MCF-7	breast:
11	chr22:22089192..22091927-chr22:22279825..22282512,2	K562	blood:
12	chr22:22088723..22091421-chr22:22896178..22899037,2	K562	blood:
13	chr22:21995824..21997937-chr22:22089395..22092110,2	MCF-7	breast:
14	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
15	chr22:22019023..22020752-chr22:22089369..22093678,3	K562	blood:
16	chr22:22089106..22092560-chr22:22306070..22309716,3	K562	blood:
17	chr22:22088241..22089939-chr22:22093963..22096125,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212102	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000244671	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000161180	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	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
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	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
18	esv3437266	chr22:22088777-22091525	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
19	esv3380983	chr22:22089102-22091350	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22088600-22089600	Flanking Active TSS	Fetal Heart	heart
2	chr22:22088600-22089800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr22:22088600-22089800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:22088800-22089600	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr22:22088800-22089600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr22:22088800-22089600	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr22:22088800-22089600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:22088800-22089600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr22:22088800-22089600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr22:22088800-22089600	Enhancers	Spleen	Spleen
11	chr22:22088800-22089800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr22:22088800-22089800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr22:22088800-22089800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:22088800-22089800	Flanking Active TSS	Fetal Thymus	thymus
15	chr22:22088800-22090800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr22:22088800-22090800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:22088800-22091000	Active TSS	Rectal Smooth Muscle	rectum
18	chr22:22088800-22091000	Active TSS	HSMM	muscle
19	chr22:22089000-22089600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr22:22089000-22089600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:22089000-22089600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr22:22089000-22089600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr22:22089000-22089600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:22089000-22089600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr22:22089000-22089600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr22:22089000-22089600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:22089000-22089600	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr22:22089000-22089600	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr22:22089000-22089600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr22:22089000-22089600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr22:22089000-22089600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr22:22089000-22089600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr22:22089000-22089600	Flanking Active TSS	Fetal Stomach	stomach
34	chr22:22089000-22089600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr22:22089000-22089600	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr22:22089000-22089800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr22:22089000-22089800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr22:22089000-22089800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr22:22089000-22089800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr22:22089000-22089800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr22:22089000-22089800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr22:22089000-22089800	Flanking Active TSS	Liver	Liver
43	chr22:22089000-22089800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr22:22089000-22089800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr22:22089000-22089800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr22:22089000-22090800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr22:22089000-22090800	Active TSS	Ovary	ovary
48	chr22:22089000-22091000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:22089200-22089600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:22089200-22089600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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