Variant report

Variant	rs531853645
Chromosome Location	chr22:20287549-20287550
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:20286655..20288759-chr22:20746416..20749237,2	K562	blood:
2	chr22:20118465..20120580-chr22:20285203..20287703,2	MCF-7	breast:
3	chr22:20286073..20288681-chr22:20850193..20851733,2	K562	blood:
4	chr22:20286073..20290077-chr22:20848237..20851733,4	K562	blood:
5	chr22:20284435..20289251-chr22:20305915..20309120,4	K562	blood:
6	chr22:20284063..20288249-chr22:20303567..20308986,5	K562	blood:
7	chr22:18923190..18924236-chr22:20286992..20287781,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099904	Chromatin interaction
ENSG00000128185	Chromatin interaction
ENSG00000099910	Chromatin interaction
ENSG00000185252	Chromatin interaction
ENSG00000273343	Chromatin interaction
ENSG00000273139	Chromatin interaction
ENSG00000100033	Chromatin interaction
ENSG00000099917	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
2	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
3	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
4	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv588237	chr22:19749525-20306993	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv588239	chr22:19907099-20309393	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer 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	158 gene(s)	inside rSNPs	diseases
8	nsv471183	chr22:20006040-20306993	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
9	esv2758536	chr22:20026493-20309447	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription 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	59 gene(s)	inside rSNPs	diseases
10	esv2758825	chr22:20026493-20309447	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv828950	chr22:20057967-20311988	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	esv1793574	chr22:20075870-20728868	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv914332	chr22:20082961-20339310	Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
14	nsv914337	chr22:20087539-20330895	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	esv1832132	chr22:20089802-20728868	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1061349	chr22:20091394-20734304	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
17	esv1804395	chr22:20093565-20485443	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription 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	69 gene(s)	inside rSNPs	diseases
18	esv1850291	chr22:20093565-20666528	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
19	esv1824760	chr22:20093565-20728868	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription 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	77 gene(s)	inside rSNPs	diseases
20	nsv1062789	chr22:20100465-20749579	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv828951	chr22:20109578-20310046	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription 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	47 gene(s)	inside rSNPs	diseases
22	nsv869949	chr22:20126918-20719112	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
23	nsv914359	chr22:20165632-20290691	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
24	nsv914360	chr22:20165632-20339310	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
25	nsv914361	chr22:20181136-20313299	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
26	nsv914365	chr22:20189077-20290691	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
27	nsv914366	chr22:20189077-20306993	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
28	nsv914375	chr22:20210055-20306993	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
29	esv3376057	chr22:20285977-20288825	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
30	nsv519102	chr22:20286099-20306993	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv588253	chr22:20287286-20344527	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20285800-20287600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr22:20285800-20287600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr22:20285800-20287600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr22:20285800-20287800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr22:20286000-20287600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:20286000-20287800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr22:20286000-20287800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr22:20286000-20287800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:20286000-20288000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr22:20286200-20287600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr22:20286200-20287600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:20286200-20287600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:20286200-20287600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr22:20286200-20287600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr22:20286200-20287600	Active TSS	Brain Anterior Caudate	brain
16	chr22:20286200-20287600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:20286200-20287600	Active TSS	Colon Smooth Muscle	Colon
18	chr22:20286200-20287800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr22:20286200-20288000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr22:20286200-20288000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:20286200-20288000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr22:20286400-20287600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:20286400-20287600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:20286400-20287600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr22:20286400-20287600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:20286400-20287600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:20286400-20287600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:20286400-20287600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:20286400-20287600	Active TSS	Primary T cells from cord blood	blood
30	chr22:20286400-20287600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:20286400-20287600	Active TSS	Psoas Muscle	Psoas
32	chr22:20286400-20287600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr22:20286400-20287600	Transcr. at gene 5' and 3'	Right Atrium	heart
34	chr22:20286400-20287800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:20286400-20287800	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr22:20286400-20287800	Active TSS	Brain Substantia Nigra	brain
37	chr22:20286400-20287800	Flanking Active TSS	Right Ventricle	heart
38	chr22:20286400-20287800	Active TSS	A549	lung
39	chr22:20286400-20287800	Active TSS	Hela-S3	cervix
40	chr22:20286400-20288000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr22:20286600-20287600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:20286600-20287600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:20286600-20287600	Active TSS	Primary B cells from peripheral blood	blood
44	chr22:20286600-20287600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr22:20286600-20287600	Active TSS	Aorta	Aorta
46	chr22:20286600-20287600	Active TSS	GM12878-XiMat	blood
47	chr22:20286600-20287600	Bivalent/Poised TSS	HepG2	liver
48	chr22:20286600-20287600	Active TSS	NH-A	brain
49	chr22:20286600-20287600	Active TSS	NHEK	skin
50	chr22:20286600-20287600	Bivalent/Poised TSS	Osteobl	bone

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