Variant report

Variant	rs9653824
Chromosome Location	chr22:30720758-30720759
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30715065..30719307-chr22:30719404..30722412,5	K562	blood:
2	chr22:30720496..30722809-chr22:30723809..30726893,3	MCF-7	breast:
3	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
4	chr22:30715065..30718690-chr22:30719404..30722127,4	K562	blood:
5	chr22:30710430..30716803-chr22:30717996..30724228,10	MCF-7	breast:
6	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
7	chr22:30712323..30715013-chr22:30718534..30720994,2	K562	blood:
8	chr22:30678847..30680505-chr22:30720237..30722502,2	MCF-7	breast:
9	chr22:30711964..30715013-chr22:30717133..30720994,3	K562	blood:
10	chr22:30719392..30722349-chr22:30722422..30724349,2	K562	blood:
11	chr22:30716894..30719257-chr22:30719729..30722601,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187860	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000099992	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12165697	0.87[AMR][1000 genomes]
rs12165816	0.87[AMR][1000 genomes]
rs12166309	0.87[AMR][1000 genomes]
rs12166660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12167903	1.00[AMR][1000 genomes]
rs12168728	0.84[AFR][1000 genomes]
rs12170269	1.00[AMR][1000 genomes]
rs12170576	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9619106	1.00[AMR][1000 genomes]
rs9620980	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30707400-30720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:30707800-30720800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:30710400-30720800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr22:30710400-30720800	Weak transcription	Fetal Kidney	kidney
5	chr22:30711800-30721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:30712000-30721000	Weak transcription	A549	lung
7	chr22:30713800-30721000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:30717400-30721000	Weak transcription	K562	blood
9	chr22:30717800-30721000	Weak transcription	Brain Germinal Matrix	brain
10	chr22:30717800-30721400	Enhancers	Spleen	Spleen
11	chr22:30718600-30721000	Weak transcription	Psoas Muscle	Psoas
12	chr22:30719400-30720800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr22:30719400-30721000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr22:30719400-30721000	Enhancers	Ovary	ovary
15	chr22:30719400-30721400	Enhancers	Lung	lung
16	chr22:30719400-30721800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr22:30719400-30722200	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr22:30719600-30720800	Enhancers	Left Ventricle	heart
19	chr22:30719600-30721000	Enhancers	Fetal Intestine Large	intestine
20	chr22:30719600-30721600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:30719800-30720800	Enhancers	Primary hematopoietic stem cells	blood
22	chr22:30719800-30720800	Genic enhancers	Fetal Intestine Small	intestine
23	chr22:30719800-30721000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr22:30720000-30720800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:30720000-30721000	Enhancers	Brain Angular Gyrus	brain
26	chr22:30720000-30721000	Enhancers	Stomach Mucosa	stomach
27	chr22:30720000-30721000	Enhancers	HepG2	liver
28	chr22:30720000-30721200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr22:30720000-30721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:30720000-30721400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr22:30720000-30721400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:30720000-30721400	Enhancers	Gastric	stomach
33	chr22:30720000-30721600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:30720000-30721600	Enhancers	Brain Substantia Nigra	brain
35	chr22:30720000-30721800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:30720000-30721800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr22:30720000-30721800	Enhancers	Fetal Brain Male	brain
38	chr22:30720000-30722000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr22:30720000-30722000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr22:30720000-30722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:30720000-30722200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:30720000-30722200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr22:30720000-30722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:30720000-30722200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:30720000-30722200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr22:30720000-30722200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr22:30720000-30722200	Flanking Active TSS	Osteobl	bone
48	chr22:30720000-30722400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr22:30720000-30722400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:30720000-30722400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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