Variant report

Variant	rs7289360
Chromosome Location	chr22:30784111-30784112
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
2	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:
3	chr22:30751699..30753468-chr22:30782814..30784590,2	K562	blood:
4	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
5	chr22:30783942..30788734-chr22:30793549..30798623,5	K562	blood:
6	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
7	chr22:30683315..30684641-chr22:30783196..30784353,5	MCF-7	breast:
8	chr22:30783511..30785819-chr22:30839208..30841180,2	K562	blood:
9	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
10	chr22:30783942..30787268-chr22:30794272..30798522,4	K562	blood:
11	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
12	chr22:30783066..30785199-chr22:30819529..30822458,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099992	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000099985	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000187860	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1005835	0.86[EUR][1000 genomes]
rs1010324	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11089447	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11089448	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11089449	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11703385	0.80[EUR][1000 genomes]
rs11703867	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11705639	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12171261	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072160	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2074731	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2267154	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267155	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267156	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283866	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283870	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283871	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299827	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2839998	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57940170	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5994294	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5994305	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5994306	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5997637	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5997646	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61583714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71331235	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7288366	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7290317	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8141656	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9619096	0.83[EUR][1000 genomes]
rs9619098	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9619105	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9620984	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	esv3376959	chr22:30782102-30785000	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3374389	chr22:30782177-30784725	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783200-30787000	Weak transcription	Primary B cells from cord blood	blood
2	chr22:30783800-30784400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr22:30783800-30785000	Enhancers	Placenta	Placenta
4	chr22:30783800-30786600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:30783800-30786600	Weak transcription	K562	blood
6	chr22:30783800-30786800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:30783800-30786800	Weak transcription	Colonic Mucosa	Colon
8	chr22:30783800-30787000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:30783800-30787000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:30783800-30787000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:30783800-30787000	Weak transcription	Brain Anterior Caudate	brain
12	chr22:30783800-30787000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr22:30783800-30787000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:30783800-30787000	Weak transcription	Brain Substantia Nigra	brain
15	chr22:30783800-30787000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:30783800-30787000	Weak transcription	HSMM	muscle
17	chr22:30783800-30787200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:30783800-30787200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:30783800-30787200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr22:30783800-30787200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:30783800-30787200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:30783800-30787200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:30783800-30787200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr22:30783800-30787200	Weak transcription	Brain Hippocampus Middle	brain
25	chr22:30783800-30787200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr22:30783800-30787200	Weak transcription	NHDF-Ad	bronchial
27	chr22:30783800-30787200	Weak transcription	NHLF	lung
28	chr22:30783800-30787400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr22:30783800-30787400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr22:30783800-30787400	Weak transcription	Primary T cells from cord blood	blood
31	chr22:30783800-30787400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:30783800-30787400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr22:30783800-30787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:30783800-30787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:30783800-30787400	Weak transcription	Liver	Liver
36	chr22:30783800-30787400	Weak transcription	Brain Angular Gyrus	brain
37	chr22:30783800-30787400	Weak transcription	Fetal Intestine Large	intestine
38	chr22:30783800-30787400	Weak transcription	Spleen	Spleen
39	chr22:30783800-30787400	Weak transcription	HUVEC	blood vessel
40	chr22:30783800-30787400	Weak transcription	Osteobl	bone
41	chr22:30783800-30787600	Weak transcription	Left Ventricle	heart
42	chr22:30783800-30788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:30783800-30788600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr22:30783800-30789200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr22:30783800-30789200	Weak transcription	Stomach Mucosa	stomach
46	chr22:30783800-30789600	Weak transcription	Lung	lung
47	chr22:30783800-30792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:30783800-30792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:30783800-30792400	Weak transcription	Fetal Brain Male	brain
50	chr22:30783800-30792400	Weak transcription	Fetal Lung	lung

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