Variant report

Variant	rs56688052
Chromosome Location	chr5:126259886-126259887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126258710..126261144-chr5:126262419..126265615,3	K562	blood:

Extended variants
information (count: 210 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:208)

rs_ID	r²[population]
rs10040840	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10075097	0.82[ASN][1000 genomes]
rs10519919	1.00[EUR][1000 genomes]
rs10519920	0.82[ASN][1000 genomes]
rs10519922	1.00[EUR][1000 genomes]
rs10519923	1.00[EUR][1000 genomes]
rs12518420	1.00[EUR][1000 genomes]
rs12651864	1.00[EUR][1000 genomes]
rs12652390	1.00[EUR][1000 genomes]
rs12652417	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12653000	1.00[EUR][1000 genomes]
rs12653290	1.00[EUR][1000 genomes]
rs12653444	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12653823	0.82[ASN][1000 genomes]
rs12654717	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12654725	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12654808	0.82[EUR][1000 genomes]
rs12655006	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12655199	1.00[EUR][1000 genomes]
rs12655223	0.82[EUR][1000 genomes]
rs12655258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655319	1.00[EUR][1000 genomes]
rs12655435	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12655605	1.00[EUR][1000 genomes]
rs12655699	0.82[ASN][1000 genomes]
rs12655726	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12655928	1.00[EUR][1000 genomes]
rs12655991	0.82[EUR][1000 genomes]
rs12656223	0.86[ASN][1000 genomes]
rs12656236	1.00[EUR][1000 genomes]
rs12656537	1.00[EUR][1000 genomes]
rs12656837	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12658138	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658174	0.82[EUR][1000 genomes]
rs12658599	1.00[EUR][1000 genomes]
rs12658608	0.84[EUR][1000 genomes]
rs12658816	1.00[EUR][1000 genomes]
rs12658821	1.00[EUR][1000 genomes]
rs12658822	0.82[EUR][1000 genomes]
rs12659476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659607	1.00[EUR][1000 genomes]
rs12659614	1.00[EUR][1000 genomes]
rs12659633	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17165192	1.00[EUR][1000 genomes]
rs17165194	1.00[EUR][1000 genomes]
rs17165211	1.00[EUR][1000 genomes]
rs17165228	1.00[EUR][1000 genomes]
rs17165234	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17165236	0.82[ASN][1000 genomes]
rs17165239	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17165244	0.82[ASN][1000 genomes]
rs17165248	0.82[ASN][1000 genomes]
rs17165249	1.00[EUR][1000 genomes]
rs17165251	0.82[ASN][1000 genomes]
rs34416835	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34738240	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35566904	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627668	1.00[EUR][1000 genomes]
rs36091921	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812061	0.82[EUR][1000 genomes]
rs4141169	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4141170	0.82[ASN][1000 genomes]
rs55792418	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55802546	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56073877	0.82[ASN][1000 genomes]
rs56094173	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56122855	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56124224	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56272610	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56279346	0.80[ASN][1000 genomes]
rs56689722	1.00[EUR][1000 genomes]
rs56786115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57031083	0.82[EUR][1000 genomes]
rs57032367	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57052202	1.00[EUR][1000 genomes]
rs57081850	1.00[EUR][1000 genomes]
rs57113926	0.82[EUR][1000 genomes]
rs57285842	0.82[ASN][1000 genomes]
rs57485054	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57627287	1.00[EUR][1000 genomes]
rs57700815	1.00[EUR][1000 genomes]
rs57833976	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57906418	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57915728	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58030771	0.82[ASN][1000 genomes]
rs58164143	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58249730	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58262537	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58527455	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58646561	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58754116	0.82[ASN][1000 genomes]
rs58838495	0.82[EUR][1000 genomes]
rs58894799	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59459356	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59489123	1.00[EUR][1000 genomes]
rs59643871	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59676931	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59770843	0.82[ASN][1000 genomes]
rs59814275	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60045571	0.82[EUR][1000 genomes]
rs60138815	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60244211	0.82[EUR][1000 genomes]
rs60615137	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636815	1.00[EUR][1000 genomes]
rs60781824	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60889784	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60892581	0.81[ASN][1000 genomes]
rs61031864	1.00[EUR][1000 genomes]
rs61258380	1.00[EUR][1000 genomes]
rs61279308	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61463824	0.82[EUR][1000 genomes]
rs61496590	0.82[EUR][1000 genomes]
rs61544197	0.82[ASN][1000 genomes]
rs61653213	1.00[EUR][1000 genomes]
rs61679093	0.82[ASN][1000 genomes]
rs61685918	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61697996	0.82[ASN][1000 genomes]
rs6595747	0.86[ASN][1000 genomes]
rs6860581	0.86[ASN][1000 genomes]
rs6862462	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6864607	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6872893	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6877692	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6882025	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6883181	1.00[EUR][1000 genomes]
rs6886131	0.86[ASN][1000 genomes]
rs6888532	1.00[EUR][1000 genomes]
rs6892168	0.86[ASN][1000 genomes]
rs6893763	1.00[EUR][1000 genomes]
rs6899030	1.00[EUR][1000 genomes]
rs72505648	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335426	0.82[EUR][1000 genomes]
rs73335444	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335447	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335461	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335474	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335490	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335494	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335498	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73335501	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73337225	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73337229	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337233	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337299	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73339248	0.86[ASN][1000 genomes]
rs73339251	0.82[ASN][1000 genomes]
rs73339283	0.82[ASN][1000 genomes]
rs73339293	0.82[ASN][1000 genomes]
rs73783476	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73783496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783501	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783503	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73783504	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73783506	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73783507	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73783529	0.82[ASN][1000 genomes]
rs73786207	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786209	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786212	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786240	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786241	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786242	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786244	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786247	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786249	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786250	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786252	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786253	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786255	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786259	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786260	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786261	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786262	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786264	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786265	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786266	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786267	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786268	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786269	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786270	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786271	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786272	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73786276	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786277	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786278	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786280	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786281	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786282	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786283	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786284	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786285	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786287	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786288	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786290	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786294	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786295	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786298	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73787403	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73787404	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73787406	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7701976	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7709865	0.96[ASN][1000 genomes]
rs7715377	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7727719	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9918233	1.00[EUR][1000 genomes];0.86[ASN][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126244400-126261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:126254000-126261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:126255400-126272400	Weak transcription	HSMM	muscle
7	chr5:126255600-126263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:126255600-126272400	Weak transcription	HSMMtube	muscle
9	chr5:126256200-126261000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:126257200-126262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:126257200-126267800	Weak transcription	Psoas Muscle	Psoas
12	chr5:126257400-126260200	Weak transcription	Brain Anterior Caudate	brain
13	chr5:126257400-126261800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:126257400-126263200	Weak transcription	Brain Substantia Nigra	brain
15	chr5:126257800-126262800	Enhancers	Fetal Heart	heart
16	chr5:126257800-126267800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:126257800-126274000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:126258000-126260000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:126258000-126260600	Weak transcription	Brain Germinal Matrix	brain
20	chr5:126258000-126261400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:126258000-126261800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:126258000-126261800	Weak transcription	Right Atrium	heart
23	chr5:126258000-126262000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:126258000-126262000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:126258000-126262000	Weak transcription	Right Ventricle	heart
26	chr5:126258000-126263200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:126258000-126263200	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:126258000-126266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:126258000-126266600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:126258000-126274800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:126258200-126261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:126258200-126266600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:126259200-126261400	Weak transcription	K562	blood
34	chr5:126259400-126261800	Weak transcription	Left Ventricle	heart
35	chr5:126259600-126261800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:126259800-126260000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:126259800-126260000	Enhancers	Fetal Kidney	kidney
38	chr5:126259800-126262200	Enhancers	Cortex derived primary cultured neurospheres	brain

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