Variant report

Variant	rs56063325
Chromosome Location	chr5:126248947-126248948
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	chr5:126248689..126250202-chr5:126280275..126282842,2	K562	blood:
2	chr5:126220165..126221679-chr5:126246569..126249323,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2240529	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2240530	1.00[AFR][1000 genomes]
rs55780389	0.84[ASN][1000 genomes]
rs55887767	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs55926617	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs55958512	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56102558	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56298765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57273792	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs57448612	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs57496473	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs57691405	1.00[AFR][1000 genomes]
rs58170839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59255338	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59722252	0.84[ASN][1000 genomes]
rs60409361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61137046	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61563447	0.84[ASN][1000 genomes]
rs73783474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73783479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73783483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73783485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783486	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73783489	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73783491	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73783494	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783499	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783500	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783511	0.84[ASN][1000 genomes]
rs73786208	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786211	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786236	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786237	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786243	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786248	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786254	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786256	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786257	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786289	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786297	0.84[ASN][1000 genomes]
rs73786300	0.84[ASN][1000 genomes]
rs73786301	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73786302	0.84[ASN][1000 genomes]
rs73787405	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73787409	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126201800-126253400	Weak transcription	A549	lung
2	chr5:126214600-126250400	Weak transcription	Pancreas	Pancrea
3	chr5:126214800-126255200	Weak transcription	Psoas Muscle	Psoas
4	chr5:126229600-126253600	Weak transcription	Brain Anterior Caudate	brain
5	chr5:126231200-126254000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:126233800-126256000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:126237000-126254000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:126237800-126256000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:126238200-126256000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:126238800-126253800	Weak transcription	HSMMtube	muscle
11	chr5:126239000-126250200	Weak transcription	Ovary	ovary
12	chr5:126239200-126250600	Weak transcription	Right Ventricle	heart
13	chr5:126239200-126250600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:126241200-126250600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:126243000-126250400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:126244000-126253600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:126244400-126257000	Weak transcription	Fetal Thymus	thymus
18	chr5:126244400-126261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:126245200-126249000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:126245400-126250400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:126245400-126253000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr5:126245400-126253600	Strong transcription	Primary B cells from cord blood	blood
23	chr5:126245400-126256000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:126245600-126250400	Weak transcription	Aorta	Aorta
25	chr5:126245600-126253600	Strong transcription	HSMM	muscle
26	chr5:126245800-126256600	Weak transcription	Thymus	Thymus
27	chr5:126246200-126249200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:126246200-126250400	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:126246200-126250400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:126246200-126250400	Weak transcription	Spleen	Spleen
31	chr5:126246200-126250600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:126246200-126253200	Weak transcription	Stomach Mucosa	stomach
33	chr5:126246200-126253400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:126246200-126253600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:126246200-126255400	Weak transcription	Brain Substantia Nigra	brain
36	chr5:126246200-126256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:126246200-126259800	Weak transcription	Fetal Kidney	kidney
38	chr5:126246400-126253600	Weak transcription	Colonic Mucosa	Colon
39	chr5:126246400-126256000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr5:126247000-126249200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr5:126247000-126253600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:126247000-126253800	Weak transcription	NHLF	lung
43	chr5:126247000-126255400	Weak transcription	Fetal Brain Female	brain
44	chr5:126247200-126249000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:126247200-126250600	Weak transcription	Fetal Stomach	stomach
46	chr5:126247200-126254600	Weak transcription	HepG2	liver
47	chr5:126247400-126253000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:126247400-126254000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:126247600-126249600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:126247600-126253000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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