Variant report

Variant	rs56689722
Chromosome Location	chr5:126334220-126334221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126312688..126315514-chr5:126332602..126335445,3	K562	blood:
2	chr5:126332731..126335455-chr5:126360068..126362849,3	K562	blood:
3	chr5:126330150..126334405-chr5:126338053..126340230,4	K562	blood:
4	chr5:126220316..126221859-chr5:126333591..126335287,2	K562	blood:
5	chr5:126307245..126309277-chr5:126332879..126335522,2	K562	blood:
6	chr5:126317258..126320149-chr5:126332134..126334616,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10040840	0.82[EUR][1000 genomes]
rs10519919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10519922	1.00[EUR][1000 genomes]
rs10519923	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12518420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12651864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12652390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12652417	1.00[EUR][1000 genomes]
rs12653000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12653290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12653444	1.00[EUR][1000 genomes]
rs12654717	1.00[EUR][1000 genomes]
rs12654725	1.00[EUR][1000 genomes]
rs12654808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12655006	1.00[EUR][1000 genomes]
rs12655199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12655223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12655258	1.00[EUR][1000 genomes]
rs12655319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12655435	1.00[EUR][1000 genomes]
rs12655605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12655726	1.00[EUR][1000 genomes]
rs12655928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12655991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12656236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12656537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656837	1.00[EUR][1000 genomes]
rs12658138	1.00[EUR][1000 genomes]
rs12658174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12658599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658608	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12658816	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12658822	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12659476	1.00[EUR][1000 genomes]
rs12659607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12659614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12659633	1.00[EUR][1000 genomes]
rs17165192	1.00[EUR][1000 genomes]
rs17165194	1.00[EUR][1000 genomes]
rs17165211	1.00[EUR][1000 genomes]
rs17165228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17165234	1.00[EUR][1000 genomes]
rs17165239	1.00[EUR][1000 genomes]
rs17165249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17839703	0.92[EUR][1000 genomes]
rs34416835	1.00[EUR][1000 genomes]
rs34738240	1.00[EUR][1000 genomes]
rs35566904	1.00[EUR][1000 genomes]
rs35627668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36091921	1.00[EUR][1000 genomes]
rs3812061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4141169	1.00[EUR][1000 genomes]
rs55792418	1.00[EUR][1000 genomes]
rs55802546	1.00[EUR][1000 genomes]
rs56094173	1.00[EUR][1000 genomes]
rs56122855	0.92[EUR][1000 genomes]
rs56124224	1.00[EUR][1000 genomes]
rs56171951	0.92[EUR][1000 genomes]
rs56272610	1.00[EUR][1000 genomes]
rs56688052	1.00[EUR][1000 genomes]
rs56786115	1.00[EUR][1000 genomes]
rs57031083	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57032367	1.00[EUR][1000 genomes]
rs57052202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57081850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57113926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57485054	0.82[EUR][1000 genomes]
rs57627287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57700815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57833976	1.00[EUR][1000 genomes]
rs57906418	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57915728	1.00[EUR][1000 genomes]
rs58164143	1.00[EUR][1000 genomes]
rs58249730	0.91[EUR][1000 genomes]
rs58262537	1.00[EUR][1000 genomes]
rs58527455	1.00[EUR][1000 genomes]
rs58646561	1.00[EUR][1000 genomes]
rs58838495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58894799	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59459356	1.00[EUR][1000 genomes]
rs59489123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59643871	1.00[EUR][1000 genomes]
rs59676931	1.00[EUR][1000 genomes]
rs59814275	1.00[EUR][1000 genomes]
rs60045571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60138815	1.00[EUR][1000 genomes]
rs60244211	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60615137	1.00[EUR][1000 genomes]
rs60636815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60781824	1.00[EUR][1000 genomes]
rs60889784	1.00[EUR][1000 genomes]
rs61031864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61258380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61279308	1.00[EUR][1000 genomes]
rs61463824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61496590	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61647801	0.90[ASN][1000 genomes]
rs61653213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61685918	1.00[EUR][1000 genomes]
rs6862462	1.00[EUR][1000 genomes]
rs6864607	0.82[EUR][1000 genomes]
rs6872893	1.00[EUR][1000 genomes]
rs6877692	1.00[EUR][1000 genomes]
rs6882025	1.00[EUR][1000 genomes]
rs6883181	1.00[EUR][1000 genomes]
rs6888532	1.00[EUR][1000 genomes]
rs6893763	1.00[EUR][1000 genomes]
rs6899030	1.00[EUR][1000 genomes]
rs72505648	0.82[EUR][1000 genomes]
rs73335426	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73335444	0.82[EUR][1000 genomes]
rs73335447	0.82[EUR][1000 genomes]
rs73335461	0.82[EUR][1000 genomes]
rs73335474	0.82[EUR][1000 genomes]
rs73335490	1.00[EUR][1000 genomes]
rs73335494	1.00[EUR][1000 genomes]
rs73335498	1.00[EUR][1000 genomes]
rs73335501	1.00[EUR][1000 genomes]
rs73337225	0.84[EUR][1000 genomes]
rs73337229	1.00[EUR][1000 genomes]
rs73337233	1.00[EUR][1000 genomes]
rs73337299	1.00[EUR][1000 genomes]
rs73783476	0.82[EUR][1000 genomes]
rs73783496	1.00[EUR][1000 genomes]
rs73783501	1.00[EUR][1000 genomes]
rs73783503	1.00[EUR][1000 genomes]
rs73783504	1.00[EUR][1000 genomes]
rs73783506	1.00[EUR][1000 genomes]
rs73783507	1.00[EUR][1000 genomes]
rs73786207	1.00[EUR][1000 genomes]
rs73786209	1.00[EUR][1000 genomes]
rs73786212	1.00[EUR][1000 genomes]
rs73786239	1.00[EUR][1000 genomes]
rs73786240	1.00[EUR][1000 genomes]
rs73786241	1.00[EUR][1000 genomes]
rs73786242	1.00[EUR][1000 genomes]
rs73786244	1.00[EUR][1000 genomes]
rs73786246	1.00[EUR][1000 genomes]
rs73786247	1.00[EUR][1000 genomes]
rs73786249	1.00[EUR][1000 genomes]
rs73786250	1.00[EUR][1000 genomes]
rs73786251	1.00[EUR][1000 genomes]
rs73786252	1.00[EUR][1000 genomes]
rs73786253	1.00[EUR][1000 genomes]
rs73786255	1.00[EUR][1000 genomes]
rs73786259	1.00[EUR][1000 genomes]
rs73786260	1.00[EUR][1000 genomes]
rs73786261	1.00[EUR][1000 genomes]
rs73786262	1.00[EUR][1000 genomes]
rs73786264	1.00[EUR][1000 genomes]
rs73786265	1.00[EUR][1000 genomes]
rs73786266	1.00[EUR][1000 genomes]
rs73786267	0.92[EUR][1000 genomes]
rs73786268	1.00[EUR][1000 genomes]
rs73786269	1.00[EUR][1000 genomes]
rs73786270	1.00[EUR][1000 genomes]
rs73786271	1.00[EUR][1000 genomes]
rs73786272	1.00[EUR][1000 genomes]
rs73786276	1.00[EUR][1000 genomes]
rs73786277	1.00[EUR][1000 genomes]
rs73786278	1.00[EUR][1000 genomes]
rs73786280	1.00[EUR][1000 genomes]
rs73786281	1.00[EUR][1000 genomes]
rs73786282	1.00[EUR][1000 genomes]
rs73786283	1.00[EUR][1000 genomes]
rs73786284	1.00[EUR][1000 genomes]
rs73786285	1.00[EUR][1000 genomes]
rs73786287	1.00[EUR][1000 genomes]
rs73786288	1.00[EUR][1000 genomes]
rs73786290	1.00[EUR][1000 genomes]
rs73786294	1.00[EUR][1000 genomes]
rs73786295	1.00[EUR][1000 genomes]
rs73786298	1.00[EUR][1000 genomes]
rs73787403	1.00[EUR][1000 genomes]
rs73787404	1.00[EUR][1000 genomes]
rs73787406	1.00[EUR][1000 genomes]
rs7701976	0.82[EUR][1000 genomes]
rs7715377	0.82[EUR][1000 genomes]
rs7727719	0.82[EUR][1000 genomes]
rs9918233	1.00[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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126320800-126356000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126323400-126334800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:126325600-126342000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126327800-126335600	Enhancers	Fetal Heart	heart
5	chr5:126328800-126335400	Enhancers	Psoas Muscle	Psoas
6	chr5:126331800-126335600	Enhancers	Left Ventricle	heart
7	chr5:126333000-126335400	Enhancers	Fetal Muscle Leg	muscle
8	chr5:126333200-126335200	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:126333200-126335600	Enhancers	Right Ventricle	heart
10	chr5:126333400-126335200	Flanking Active TSS	K562	blood
11	chr5:126333400-126335400	Enhancers	Brain Hippocampus Middle	brain
12	chr5:126333400-126335400	Enhancers	Brain Substantia Nigra	brain
13	chr5:126333400-126336200	Enhancers	Stomach Mucosa	stomach
14	chr5:126333600-126335000	Enhancers	Osteobl	bone
15	chr5:126333600-126335200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:126333600-126335600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:126333800-126334400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:126333800-126334400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:126333800-126334400	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:126333800-126334400	Enhancers	Esophagus	oesophagus
21	chr5:126333800-126334400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:126333800-126334400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr5:126333800-126334600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:126333800-126334600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:126333800-126334600	Enhancers	Primary B cells from cord blood	blood
26	chr5:126333800-126334600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr5:126333800-126334600	Enhancers	HUVEC	blood vessel
28	chr5:126333800-126335000	Enhancers	Adipose Nuclei	Adipose
29	chr5:126333800-126335400	Enhancers	Pancreas	Pancrea
30	chr5:126333800-126335600	Enhancers	Brain Anterior Caudate	brain
31	chr5:126334000-126334400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:126334000-126334400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:126334000-126334400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:126334000-126334400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:126334000-126334400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:126334000-126334400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:126334000-126334400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:126334000-126334400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:126334000-126334400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:126334000-126334400	Enhancers	Colonic Mucosa	Colon
41	chr5:126334000-126334400	Enhancers	Gastric	stomach
42	chr5:126334000-126334400	Enhancers	Lung	lung
43	chr5:126334000-126334400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr5:126334000-126334400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr5:126334000-126334400	Enhancers	Small Intestine	intestine
46	chr5:126334000-126334400	Flanking Active TSS	GM12878-XiMat	blood
47	chr5:126334000-126334400	Flanking Active TSS	HSMMtube	muscle
48	chr5:126334000-126334400	Enhancers	NH-A	brain
49	chr5:126334000-126334400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr5:126334000-126334600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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