Variant report

Variant	rs5763680
Chromosome Location	chr22:30389400-30389401
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30231401..30237558-chr22:30387473..30391733,6	MCF-7	breast:
2	chr22:30162215..30164078-chr22:30387745..30390340,2	MCF-7	breast:
3	chr22:30376984..30378787-chr22:30386876..30389530,2	MCF-7	breast:
4	chr22:30388182..30392809-chr22:30393222..30398050,6	K562	blood:
5	chr22:30388710..30391580-chr22:30397983..30401344,3	MCF-7	breast:
6	chr22:30388182..30391432-chr22:30393585..30396816,3	K562	blood:
7	chr22:30194011..30196318-chr22:30389051..30390568,2	MCF-7	breast:
8	chr22:30387371..30390104-chr22:30390840..30392967,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction
ENSG00000184076	Chromatin interaction
ENSG00000100319	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1071888	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11090598	0.84[EUR][1000 genomes]
rs12167333	0.80[EUR][1000 genomes]
rs12168499	0.84[EUR][1000 genomes]
rs12168552	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12171061	0.89[EUR][1000 genomes]
rs12171250	0.82[EUR][1000 genomes]
rs17643918	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17648725	0.84[EUR][1000 genomes]
rs1807509	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193473	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs193481	0.91[EUR][1000 genomes]
rs2017677	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051764	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105870	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2412960	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412963	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28257	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34862234	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35705048	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36580	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36590	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36591	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36594	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36596	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36598	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36600	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36601	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36604	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36605	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36606	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36607	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788423	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887275	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs39712	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41162	0.93[EUR][1000 genomes]
rs41164	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41166	0.88[EUR][1000 genomes]
rs41175	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41179	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4239932	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4239933	0.84[EUR][1000 genomes]
rs4337577	0.84[EUR][1000 genomes]
rs4823063	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4823070	0.83[EUR][1000 genomes]
rs4993442	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752986	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752988	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752993	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763630	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763634	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763644	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763674	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763675	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763689	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763691	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs715523	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718772	0.84[EUR][1000 genomes]
rs7286070	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7292615	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737904	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737912	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7510705	0.84[EUR][1000 genomes]
rs8135823	0.84[EUR][1000 genomes]
rs8136147	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8139994	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8141404	0.87[EUR][1000 genomes]
rs8141680	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620926	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620943	0.87[EUR][1000 genomes]
rs9620953	0.81[EUR][1000 genomes]
rs9625873	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9625874	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9625878	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9625879	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9625919	0.84[EUR][1000 genomes]
rs9625926	0.84[EUR][1000 genomes]
rs9625931	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
3	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
4	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:30366600-30390800	Weak transcription	Gastric	stomach
6	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:30370000-30391000	Weak transcription	Fetal Heart	heart
9	chr22:30370600-30390800	Weak transcription	Right Ventricle	heart
10	chr22:30370800-30390000	Weak transcription	Stomach Mucosa	stomach
11	chr22:30373800-30391400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr22:30374200-30389600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:30375200-30389800	Weak transcription	K562	blood
14	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:30375400-30390800	Weak transcription	Pancreas	Pancrea
16	chr22:30375800-30389800	Weak transcription	HUVEC	blood vessel
17	chr22:30376200-30389800	Weak transcription	Hela-S3	cervix
18	chr22:30376200-30394800	Weak transcription	GM12878-XiMat	blood
19	chr22:30377000-30389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
21	chr22:30378200-30398800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:30378400-30391400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr22:30379200-30391200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:30379800-30390800	Weak transcription	Esophagus	oesophagus
25	chr22:30380800-30391800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr22:30381000-30397600	Weak transcription	Fetal Kidney	kidney
27	chr22:30382000-30389600	Strong transcription	Liver	Liver
28	chr22:30382000-30390600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30382600-30392000	Strong transcription	Primary T cells from cord blood	blood
30	chr22:30383200-30390400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:30383800-30391600	Strong transcription	Primary B cells from cord blood	blood
32	chr22:30384200-30391000	Weak transcription	Brain Substantia Nigra	brain
33	chr22:30384200-30398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:30384200-30403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:30384400-30393400	Weak transcription	Brain Hippocampus Middle	brain
36	chr22:30384400-30404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr22:30384800-30390800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr22:30385000-30390200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:30385000-30390600	Strong transcription	Placenta	Placenta
40	chr22:30385000-30404000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:30385600-30390000	Strong transcription	Dnd41	blood
42	chr22:30385800-30389800	Strong transcription	Fetal Stomach	stomach
43	chr22:30386000-30389400	Strong transcription	Thymus	Thymus
44	chr22:30386200-30402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr22:30386400-30389600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr22:30386600-30390800	Strong transcription	Adipose Nuclei	Adipose
47	chr22:30386600-30391200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr22:30386800-30390200	Weak transcription	Fetal Intestine Small	intestine
49	chr22:30386800-30390600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr22:30386800-30391000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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