Variant report

Variant	rs73335444
Chromosome Location	chr5:126214875-126214876
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	chr5:126212812-126215063	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126214300..126217268-chr5:126520961..126522578,2	K562	blood:
2	chr5:126184073..126185749-chr5:126214493..126216250,2	K562	blood:
3	chr5:126112627..126114290-chr5:126214737..126217081,2	K562	blood:
4	chr5:126213898..126216228-chr5:126364824..126367570,2	K562	blood:

Variant related genes	Relation type
MARCH3	TF binding region
ENSG00000173926	Chromatin interaction
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 180 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs10040840	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519919	0.82[EUR][1000 genomes]
rs10519922	0.82[EUR][1000 genomes]
rs10519923	0.82[EUR][1000 genomes]
rs12518420	0.82[EUR][1000 genomes]
rs12651864	0.82[EUR][1000 genomes]
rs12652390	0.82[EUR][1000 genomes]
rs12652417	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12653000	0.82[EUR][1000 genomes]
rs12653290	0.82[EUR][1000 genomes]
rs12653444	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654717	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654725	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654808	1.00[EUR][1000 genomes]
rs12655006	0.82[EUR][1000 genomes]
rs12655199	0.82[EUR][1000 genomes]
rs12655223	1.00[EUR][1000 genomes]
rs12655258	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12655319	0.82[EUR][1000 genomes]
rs12655435	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12655605	0.82[EUR][1000 genomes]
rs12655726	0.82[EUR][1000 genomes]
rs12655928	0.82[EUR][1000 genomes]
rs12655991	1.00[EUR][1000 genomes]
rs12656236	0.82[EUR][1000 genomes]
rs12656537	0.82[EUR][1000 genomes]
rs12656837	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12658138	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12658174	1.00[EUR][1000 genomes]
rs12658599	0.82[EUR][1000 genomes]
rs12658816	0.82[EUR][1000 genomes]
rs12658821	0.82[EUR][1000 genomes]
rs12658822	1.00[EUR][1000 genomes]
rs12659476	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12659607	0.82[EUR][1000 genomes]
rs12659614	0.82[EUR][1000 genomes]
rs12659633	0.82[EUR][1000 genomes]
rs17165192	0.82[EUR][1000 genomes]
rs17165194	0.82[EUR][1000 genomes]
rs17165211	0.82[EUR][1000 genomes]
rs17165228	0.82[EUR][1000 genomes]
rs17165234	0.82[EUR][1000 genomes]
rs17165239	0.82[EUR][1000 genomes]
rs17165249	0.82[EUR][1000 genomes]
rs34416835	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34738240	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35566904	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35627668	0.82[EUR][1000 genomes]
rs36091921	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3812061	1.00[EUR][1000 genomes]
rs4141169	0.82[EUR][1000 genomes]
rs55792418	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55802546	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56094173	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56122855	0.89[ASN][1000 genomes]
rs56124224	0.82[EUR][1000 genomes]
rs56272610	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56688052	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56689722	0.82[EUR][1000 genomes]
rs56786115	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57031083	1.00[EUR][1000 genomes]
rs57032367	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57052202	0.82[EUR][1000 genomes]
rs57081850	0.82[EUR][1000 genomes]
rs57113926	1.00[EUR][1000 genomes]
rs57485054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57627287	0.82[EUR][1000 genomes]
rs57700815	0.82[EUR][1000 genomes]
rs57833976	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57915728	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58164143	0.82[EUR][1000 genomes]
rs58249730	0.93[ASN][1000 genomes]
rs58262537	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58527455	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58646561	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58838495	1.00[EUR][1000 genomes]
rs58894799	0.82[EUR][1000 genomes]
rs59459356	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59489123	0.82[EUR][1000 genomes]
rs59643871	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59676931	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59814275	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60045571	1.00[EUR][1000 genomes]
rs60138815	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60615137	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60636815	0.82[EUR][1000 genomes]
rs60781824	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60889784	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61031864	0.82[EUR][1000 genomes]
rs61258380	0.82[EUR][1000 genomes]
rs61279308	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61463824	1.00[EUR][1000 genomes]
rs61496590	1.00[EUR][1000 genomes]
rs61647801	0.82[EUR][1000 genomes]
rs61653213	0.82[EUR][1000 genomes]
rs61685918	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6862462	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6864607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872893	0.82[EUR][1000 genomes]
rs6877692	0.82[EUR][1000 genomes]
rs6882025	0.82[EUR][1000 genomes]
rs6883181	0.82[EUR][1000 genomes]
rs6888532	0.82[EUR][1000 genomes]
rs6893763	0.82[EUR][1000 genomes]
rs6899030	0.82[EUR][1000 genomes]
rs72505648	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335426	1.00[EUR][1000 genomes]
rs73335447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335490	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335494	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335498	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73335501	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73337225	0.89[ASN][1000 genomes]
rs73337229	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73337233	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73337299	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783476	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783496	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73783501	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73783503	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783504	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783506	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783507	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786207	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786209	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786212	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786239	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786240	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786241	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786242	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786244	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786246	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786247	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786249	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786250	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786251	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786252	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786253	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786255	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786259	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786260	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786261	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786262	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786264	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786265	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786266	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786267	0.93[ASN][1000 genomes]
rs73786268	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786269	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786270	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786271	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73786272	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73786276	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786277	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786278	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786280	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786281	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786282	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786283	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786284	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786285	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786287	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786288	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786290	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786294	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786295	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786298	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73787403	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73787404	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73787406	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7701976	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709865	0.89[ASN][1000 genomes]
rs7715377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727719	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9918233	0.82[EUR][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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126201800-126253400	Weak transcription	A549	lung
2	chr5:126205200-126216200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:126205200-126219200	Weak transcription	Osteobl	bone
4	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:126205400-126215000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:126205400-126217200	Weak transcription	Brain Anterior Caudate	brain
7	chr5:126205400-126219200	Weak transcription	Brain Substantia Nigra	brain
8	chr5:126205400-126219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:126205400-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:126205400-126220800	Weak transcription	Thymus	Thymus
11	chr5:126205400-126221400	Weak transcription	Fetal Thymus	thymus
12	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:126205600-126215400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:126205600-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:126205600-126223400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:126205600-126238200	Weak transcription	Primary T cells from cord blood	blood
17	chr5:126206400-126220400	Weak transcription	Lung	lung
18	chr5:126206800-126220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:126207600-126221600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:126209000-126219600	Weak transcription	HSMMtube	muscle
21	chr5:126210400-126215000	Enhancers	Fetal Heart	heart
22	chr5:126210600-126223400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:126211200-126219600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:126211200-126221800	Weak transcription	Fetal Intestine Small	intestine
25	chr5:126211200-126231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:126211600-126218400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:126211600-126220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:126211800-126223400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:126212000-126236800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:126213000-126215800	Strong transcription	K562	blood
31	chr5:126213600-126219200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:126213800-126215000	Weak transcription	Placenta	Placenta
33	chr5:126213800-126215000	Enhancers	Right Ventricle	heart
34	chr5:126213800-126219200	Weak transcription	HUVEC	blood vessel
35	chr5:126214000-126215000	Enhancers	Adipose Nuclei	Adipose
36	chr5:126214000-126219400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:126214200-126215000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:126214200-126219200	Weak transcription	HSMM	muscle
39	chr5:126214200-126237400	Weak transcription	Fetal Brain Female	brain
40	chr5:126214200-126238600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:126214200-126238600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:126214200-126245400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:126214400-126215000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:126214400-126217400	Weak transcription	Primary B cells from cord blood	blood
45	chr5:126214600-126215400	Weak transcription	Right Atrium	heart
46	chr5:126214600-126219600	Weak transcription	Ovary	ovary
47	chr5:126214600-126220200	Weak transcription	Left Ventricle	heart
48	chr5:126214600-126232000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:126214600-126245200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:126214600-126250400	Weak transcription	Pancreas	Pancrea

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