Variant report

Variant	rs59489123
Chromosome Location	chr5:126274765-126274766
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126212405..126214450-chr5:126272648..126275090,2	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:179)

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]
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]
rs12651864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[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]
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]
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];0.85[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]
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];0.85[ASN][1000 genomes]
rs12656537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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];0.85[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];0.85[ASN][1000 genomes]
rs12658822	0.82[EUR][1000 genomes];0.95[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];0.85[ASN][1000 genomes]
rs12659614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[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]
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]
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];0.85[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];0.95[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]
rs56272610	1.00[EUR][1000 genomes]
rs56688052	1.00[EUR][1000 genomes]
rs56689722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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];1.00[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]
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];1.00[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];0.90[ASN][1000 genomes]
rs61258380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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];0.90[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:126258000-126274800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:126262400-126277600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:126263200-126280800	Weak transcription	K562	blood
7	chr5:126264600-126283000	Weak transcription	Primary T cells from cord blood	blood
8	chr5:126267200-126282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:126268200-126280000	Weak transcription	Right Ventricle	heart
10	chr5:126272400-126275000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:126272400-126285200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:126272600-126275400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:126272600-126275800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:126272800-126275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:126272800-126276000	Enhancers	NHDF-Ad	bronchial
16	chr5:126272800-126277400	Weak transcription	Psoas Muscle	Psoas
17	chr5:126272800-126282400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:126273000-126275000	Weak transcription	Left Ventricle	heart
19	chr5:126273000-126277600	Weak transcription	Brain Anterior Caudate	brain
20	chr5:126273000-126278600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:126273000-126278600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:126273000-126283400	Weak transcription	Pancreas	Pancrea
23	chr5:126273000-126285200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:126273200-126277400	Weak transcription	Fetal Heart	heart
25	chr5:126273400-126274800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:126273400-126276200	Enhancers	Osteobl	bone
27	chr5:126273600-126274800	Enhancers	HSMMtube	muscle
28	chr5:126273600-126275800	Enhancers	NHLF	lung
29	chr5:126273600-126276200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:126273800-126274800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:126273800-126275000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:126274000-126275200	Enhancers	HMEC	breast
33	chr5:126274000-126275200	Enhancers	HUVEC	blood vessel
34	chr5:126274000-126275800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:126274200-126275000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:126274200-126275400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:126274200-126275800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:126274200-126277400	Weak transcription	Adipose Nuclei	Adipose
39	chr5:126274400-126275000	Enhancers	HSMM	muscle
40	chr5:126274400-126275400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:126274600-126276000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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