Variant report

Variant	rs60615137
Chromosome Location	chr5:126256560-126256561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:126256427-126257543	K562	blood:	n/a	n/a

Variant related genes	Relation type
MARCH3	TF binding region

Extended variants
information (count: 211 )
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	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];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	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12658138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34738240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35566904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627668	1.00[EUR][1000 genomes]
rs36091921	0.83[AMR][1000 genomes];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	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56122855	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]
rs56688052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56689722	1.00[EUR][1000 genomes]
rs56786115	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57031083	0.82[EUR][1000 genomes]
rs57032367	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	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57627287	1.00[EUR][1000 genomes]
rs57700815	1.00[EUR][1000 genomes]
rs57833976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57906418	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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58262537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58527455	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58646561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58754116	0.82[ASN][1000 genomes]
rs58838495	0.82[EUR][1000 genomes]
rs58894799	1.00[EUR][1000 genomes]
rs59459356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59489123	1.00[EUR][1000 genomes]
rs59643871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59676931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59770843	0.82[ASN][1000 genomes]
rs59814275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60045571	0.82[EUR][1000 genomes]
rs60138815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60244211	0.82[EUR][1000 genomes]
rs60636815	1.00[EUR][1000 genomes]
rs60781824	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60889784	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	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61544197	0.82[ASN][1000 genomes]
rs61653213	1.00[EUR][1000 genomes]
rs61679093	0.82[ASN][1000 genomes]
rs61685918	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	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6864607	0.94[AFR][1000 genomes];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	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335426	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73335444	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335447	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335461	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335474	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335490	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335494	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335498	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73335501	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73337225	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73337229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337233	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783501	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786209	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786239	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786246	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786249	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786255	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786259	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786267	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786268	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786270	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786271	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	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7727719	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126244400-126257000	Weak transcription	Fetal Thymus	thymus
2	chr5:126244400-126261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:126245800-126256600	Weak transcription	Thymus	Thymus
4	chr5:126246200-126256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:126246200-126259800	Weak transcription	Fetal Kidney	kidney
6	chr5:126247600-126256600	Enhancers	Fetal Heart	heart
7	chr5:126247800-126257200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:126248000-126257000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:126249000-126256800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:126251000-126257800	Weak transcription	Ovary	ovary
11	chr5:126253400-126256600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:126253600-126256600	Enhancers	HUVEC	blood vessel
13	chr5:126253600-126257200	Enhancers	Pancreas	Pancrea
14	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
15	chr5:126253800-126257000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:126253800-126257200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr5:126253800-126257400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:126253800-126258000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:126254000-126257000	Weak transcription	Lung	lung
20	chr5:126254000-126258000	Enhancers	Brain Germinal Matrix	brain
21	chr5:126254000-126261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:126254200-126256600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:126254200-126256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:126254200-126257200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:126254200-126257800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:126254600-126257000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:126254800-126257200	Enhancers	Fetal Brain Male	brain
30	chr5:126254800-126257400	Enhancers	Brain Anterior Caudate	brain
31	chr5:126255000-126256600	Enhancers	Fetal Muscle Trunk	muscle
32	chr5:126255000-126258000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:126255000-126258000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:126255000-126258000	Enhancers	Fetal Muscle Leg	muscle
35	chr5:126255200-126257200	Enhancers	Psoas Muscle	Psoas
36	chr5:126255200-126257800	Enhancers	Fetal Lung	lung
37	chr5:126255400-126256600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:126255400-126257000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:126255400-126257000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:126255400-126257400	Enhancers	Brain Substantia Nigra	brain
41	chr5:126255400-126257800	Enhancers	Brain Hippocampus Middle	brain
42	chr5:126255400-126258200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:126255400-126272400	Weak transcription	HSMM	muscle
44	chr5:126255600-126256600	Weak transcription	Right Atrium	heart
45	chr5:126255600-126256600	Weak transcription	Right Ventricle	heart
46	chr5:126255600-126256600	Weak transcription	Stomach Mucosa	stomach
47	chr5:126255600-126257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:126255600-126257000	Enhancers	Fetal Stomach	stomach
49	chr5:126255600-126263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:126255600-126272400	Weak transcription	HSMMtube	muscle

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