Variant report

Variant	rs73783474
Chromosome Location	chr5:126211352-126211353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126207189..126208908-chr5:126210133..126213667,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs2240529	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2240530	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs55780389	0.89[ASN][1000 genomes]
rs55887767	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55926617	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55958512	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs56063325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56102558	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs56298765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57273792	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57448612	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57496473	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57691405	1.00[AFR][1000 genomes]
rs58170839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59255338	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs59722252	0.89[ASN][1000 genomes]
rs60409361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61137046	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61563447	0.89[ASN][1000 genomes]
rs73783479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73783486	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783489	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783491	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783494	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783499	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783500	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783511	0.89[ASN][1000 genomes]
rs73786208	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786211	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786236	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786237	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786243	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786248	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786254	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786256	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786257	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786289	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786297	0.89[ASN][1000 genomes]
rs73786300	0.89[ASN][1000 genomes]
rs73786301	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73786302	0.89[ASN][1000 genomes]
rs73787405	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73787409	0.89[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	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126201800-126253400	Weak transcription	A549	lung
2	chr5:126205000-126212800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:126205000-126214000	Weak transcription	Pancreas	Pancrea
4	chr5:126205200-126214400	Weak transcription	Psoas Muscle	Psoas
5	chr5:126205200-126216200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:126205200-126219200	Weak transcription	Osteobl	bone
7	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:126205400-126212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:126205400-126212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:126205400-126212600	Weak transcription	HUVEC	blood vessel
11	chr5:126205400-126214000	Weak transcription	Adipose Nuclei	Adipose
12	chr5:126205400-126214200	Enhancers	Fetal Brain Male	brain
13	chr5:126205400-126215000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:126205400-126217200	Weak transcription	Brain Anterior Caudate	brain
15	chr5:126205400-126219200	Weak transcription	Brain Substantia Nigra	brain
16	chr5:126205400-126219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:126205400-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:126205400-126220800	Weak transcription	Thymus	Thymus
19	chr5:126205400-126221400	Weak transcription	Fetal Thymus	thymus
20	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:126205600-126215400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:126205600-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:126205600-126223400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:126205600-126238200	Weak transcription	Primary T cells from cord blood	blood
25	chr5:126206000-126211600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:126206400-126220400	Weak transcription	Lung	lung
27	chr5:126206800-126214600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:126206800-126220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:126207200-126212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:126207600-126221600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:126208000-126214600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr5:126208400-126212800	Weak transcription	Ovary	ovary
33	chr5:126208800-126213800	Weak transcription	Right Ventricle	heart
34	chr5:126209000-126219600	Weak transcription	HSMMtube	muscle
35	chr5:126209200-126214400	Strong transcription	Primary B cells from cord blood	blood
36	chr5:126209400-126211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:126209400-126213400	Weak transcription	Left Ventricle	heart
38	chr5:126210200-126211600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:126210400-126211400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:126210400-126211600	Bivalent Enhancer	Fetal Stomach	stomach
41	chr5:126210400-126211800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr5:126210400-126211800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:126210400-126212200	Enhancers	Colon Smooth Muscle	Colon
44	chr5:126210400-126212200	Enhancers	Fetal Brain Female	brain
45	chr5:126210400-126212200	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:126210400-126213800	Enhancers	Placenta	Placenta
47	chr5:126210400-126214200	Strong transcription	HSMM	muscle
48	chr5:126210400-126215000	Enhancers	Fetal Heart	heart
49	chr5:126210600-126211600	Strong transcription	Fetal Muscle Leg	muscle
50	chr5:126210600-126211800	Enhancers	HUES6 Cell Line	embryonic stem cell

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