Variant report

Variant	rs730517
Chromosome Location	chr22:29550379-29550380
allele	G/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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29540159..29541896-chr22:29549831..29552578,2	MCF-7	breast:
2	chr22:29448833..29450694-chr22:29548349..29551156,2	K562	blood:
3	chr22:29547186..29550540-chr22:29600434..29604790,4	K562	blood:
4	chr22:29550189..29551060-chr22:29641253..29641991,3	MCF-7	breast:
5	chr22:29547025..29550393-chr22:29551126..29554117,6	K562	blood:
6	chr22:29507172..29508987-chr22:29549481..29552085,2	K562	blood:
7	chr22:29476336..29477171-chr22:29550139..29551099,3	MCF-7	breast:
8	chr22:29194920..29197276-chr22:29549664..29552289,2	MCF-7	breast:
9	chr22:29452982..29455388-chr22:29548922..29550730,2	K562	blood:
10	chr22:29507934..29508767-chr22:29550080..29551029,6	MCF-7	breast:
11	chr22:29468709..29469553-chr22:29550141..29550652,2	MCF-7	breast:
12	chr22:29468687..29470195-chr22:29550149..29552502,2	K562	blood:
13	chr22:29548200..29550640-chr22:29663832..29665499,3	K562	blood:
14	chr22:29474405..29475082-chr22:29550138..29550829,2	MCF-7	breast:
15	chr22:29277969..29280720-chr22:29548562..29550591,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EMID1-4	chr22:29550326-29550757	NONHSAT084673

No data

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000183579	Chromatin interaction
ENSG00000186998	Chromatin interaction
ENSG00000226772	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17451544	0.92[EUR][1000 genomes]
rs6006029	0.97[GIH][hapmap]
rs713527	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' 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	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs730517	ADORA2A	cis	parietal	SCAN
rs730517	IGLL1	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29542000-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:29542200-29550600	Weak transcription	Gastric	stomach
3	chr22:29544400-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:29544400-29550400	Weak transcription	Esophagus	oesophagus
5	chr22:29544800-29550800	Enhancers	Placenta	Placenta
6	chr22:29545400-29551000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:29545600-29550400	Weak transcription	Fetal Intestine Large	intestine
8	chr22:29545600-29550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:29546000-29550400	Weak transcription	Aorta	Aorta
10	chr22:29546000-29550600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr22:29546200-29550400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:29546800-29550400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr22:29546800-29551000	Enhancers	Fetal Muscle Leg	muscle
14	chr22:29547000-29550400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:29547000-29551000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:29547200-29550400	Weak transcription	Psoas Muscle	Psoas
17	chr22:29547400-29551000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:29548000-29550800	Enhancers	Spleen	Spleen
19	chr22:29548200-29550800	Enhancers	NHDF-Ad	bronchial
20	chr22:29548400-29550400	Weak transcription	Colonic Mucosa	Colon
21	chr22:29548400-29550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr22:29548600-29550400	Weak transcription	Lung	lung
23	chr22:29548600-29550600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr22:29548600-29550800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr22:29548800-29550600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:29548800-29552400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:29549000-29550400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:29549000-29550400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:29549000-29551000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:29549200-29550400	Weak transcription	Fetal Brain Male	brain
31	chr22:29549200-29550800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr22:29549400-29550400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:29549400-29550600	Weak transcription	Left Ventricle	heart
34	chr22:29549400-29551000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr22:29549400-29552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:29549400-29552800	Weak transcription	Ovary	ovary
37	chr22:29549600-29550400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr22:29549600-29550600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr22:29549600-29551000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:29549800-29550600	Enhancers	Thymus	Thymus
41	chr22:29549800-29551000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:29550000-29550400	Enhancers	Dnd41	blood
43	chr22:29550000-29550600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr22:29550000-29550600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:29550000-29550600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:29550000-29550800	Enhancers	Primary T cells from cord blood	blood
47	chr22:29550000-29550800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr22:29550000-29550800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr22:29550000-29550800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr22:29550000-29551000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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