Variant report

Variant	rs2283866
Chromosome Location	chr22:30751186-30751187
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30750048-30751795	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:30751071-30751380	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:30751062-30751547	K562	blood:	n/a	n/a
4	POLR2A	chr22:30751154-30751795	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30740000..30742543-chr22:30750600..30752817,3	MCF-7	breast:
2	chr22:30693312..30695019-chr22:30749879..30751437,2	MCF-7	breast:
3	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
4	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
5	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
6	chr22:30750563..30752352-chr22:30759520..30761812,2	MCF-7	breast:
7	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
8	chr22:30742977..30744840-chr22:30750667..30752552,2	K562	blood:
9	chr22:30750108..30752468-chr22:30775828..30777865,2	MCF-7	breast:
10	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC157	TF binding region
ENSG00000099995	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099992	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1010324	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11089442	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11089447	0.84[AMR][1000 genomes]
rs11089448	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11703385	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12169094	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12171261	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2074731	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267154	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2267155	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2267156	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2283870	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2283871	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2299827	0.81[EUR][1000 genomes]
rs2839998	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57940170	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5994294	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997637	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61583714	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71331235	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7288366	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7289360	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7289384	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7290317	0.81[AMR][1000 genomes]
rs8141656	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9619096	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9619098	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9619105	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9620984	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30723600-30751600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:30742400-30751200	Weak transcription	Psoas Muscle	Psoas
3	chr22:30742600-30751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:30748000-30751200	Genic enhancers	Dnd41	blood
5	chr22:30748800-30751200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr22:30748800-30752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:30749000-30751200	Weak transcription	Fetal Brain Male	brain
8	chr22:30749000-30751400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30749000-30751400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:30749000-30751800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:30749000-30752000	Weak transcription	Aorta	Aorta
12	chr22:30749200-30752000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:30749800-30751200	Enhancers	Brain Hippocampus Middle	brain
14	chr22:30749800-30751200	Genic enhancers	Fetal Thymus	thymus
15	chr22:30749800-30751400	Enhancers	Liver	Liver
16	chr22:30749800-30751400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:30750000-30751200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr22:30750000-30751200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30750000-30751200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:30750000-30751200	Enhancers	Brain Germinal Matrix	brain
21	chr22:30750000-30751200	Enhancers	Fetal Heart	heart
22	chr22:30750000-30751200	Enhancers	Hela-S3	cervix
23	chr22:30750000-30751200	Enhancers	HMEC	breast
24	chr22:30750000-30751400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:30750000-30751400	Enhancers	Brain Angular Gyrus	brain
26	chr22:30750000-30751400	Enhancers	Colon Smooth Muscle	Colon
27	chr22:30750000-30751400	Genic enhancers	Fetal Stomach	stomach
28	chr22:30750000-30751400	Enhancers	Rectal Smooth Muscle	rectum
29	chr22:30750000-30751400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr22:30750000-30751400	Genic enhancers	K562	blood
31	chr22:30750000-30751400	Enhancers	NHDF-Ad	bronchial
32	chr22:30750000-30751600	Enhancers	Brain Cingulate Gyrus	brain
33	chr22:30750000-30751800	Enhancers	Left Ventricle	heart
34	chr22:30750200-30751200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr22:30750200-30751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:30750200-30751200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr22:30750200-30751200	Enhancers	Right Atrium	heart
38	chr22:30750200-30751400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr22:30750200-30751400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:30750200-30751400	Enhancers	Adipose Nuclei	Adipose
41	chr22:30750200-30751400	Genic enhancers	Fetal Intestine Small	intestine
42	chr22:30750200-30751400	Enhancers	HSMMtube	muscle
43	chr22:30750200-30751600	Enhancers	Primary B cells from peripheral blood	blood
44	chr22:30750200-30751600	Enhancers	Esophagus	oesophagus
45	chr22:30750200-30751800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr22:30750200-30751800	Genic enhancers	Placenta	Placenta
47	chr22:30750200-30752000	Enhancers	Gastric	stomach
48	chr22:30750200-30752000	Enhancers	Lung	lung
49	chr22:30750200-30752000	Enhancers	Pancreas	Pancrea
50	chr22:30750200-30752000	Enhancers	Small Intestine	intestine

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