Variant report

Variant	rs73786243
Chromosome Location	chr5:126305685-126305686
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126301356..126304361-chr5:126305442..126307816,3	K562	blood:
2	chr5:126295165..126298889-chr5:126304910..126308773,5	K562	blood:
3	chr5:126303677..126307322-chr5:126308047..126312316,4	K562	blood:
4	chr5:126305254..126310520-chr5:126310606..126314158,9	K562	blood:
5	chr5:126294787..126301080-chr5:126303359..126308773,11	K562	blood:
6	chr5:126302242..126304361-chr5:126305442..126307816,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11241915	0.89[ASN][1000 genomes]
rs17165220	0.89[ASN][1000 genomes]
rs17165223	0.85[ASN][1000 genomes]
rs17839706	0.89[ASN][1000 genomes]
rs2240529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2240530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55736801	0.89[ASN][1000 genomes]
rs55780389	1.00[ASN][1000 genomes]
rs55807699	0.89[ASN][1000 genomes]
rs55887767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55926617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55958512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56063325	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56102558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56298765	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57273792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57394214	0.89[ASN][1000 genomes]
rs57448612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57496473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57691405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58170839	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59022768	0.89[ASN][1000 genomes]
rs59255338	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59584486	0.89[ASN][1000 genomes]
rs59722252	1.00[ASN][1000 genomes]
rs60381307	0.89[ASN][1000 genomes]
rs60409361	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61137046	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61563447	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61563838	0.89[ASN][1000 genomes]
rs73783474	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783479	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783483	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783485	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783511	1.00[ASN][1000 genomes]
rs73783517	0.89[ASN][1000 genomes]
rs73783518	0.89[ASN][1000 genomes]
rs73783519	0.89[ASN][1000 genomes]
rs73783522	0.89[ASN][1000 genomes]
rs73786208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786289	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786297	1.00[ASN][1000 genomes]
rs73786300	1.00[ASN][1000 genomes]
rs73786301	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786302	1.00[ASN][1000 genomes]
rs73787405	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73787409	1.00[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126297800-126307400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:126299800-126312000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:126300000-126306400	Weak transcription	Right Atrium	heart
4	chr5:126300400-126308200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:126301000-126307400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:126301000-126308800	Weak transcription	Small Intestine	intestine
7	chr5:126301200-126306000	Weak transcription	HSMMtube	muscle
8	chr5:126301200-126306200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:126301200-126308200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:126301400-126306000	Weak transcription	NH-A	brain
11	chr5:126301400-126306200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:126301400-126306400	Weak transcription	Stomach Mucosa	stomach
13	chr5:126301600-126308000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:126302000-126312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:126302400-126306200	Weak transcription	NHLF	lung
16	chr5:126302600-126305800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:126302600-126306000	Weak transcription	HSMM	muscle
18	chr5:126303600-126306200	Enhancers	K562	blood
19	chr5:126303600-126306400	Enhancers	Fetal Heart	heart
20	chr5:126304000-126306200	Enhancers	GM12878-XiMat	blood
21	chr5:126304400-126308000	Enhancers	Primary B cells from cord blood	blood
22	chr5:126304400-126310600	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:126304600-126307800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:126305000-126309400	Enhancers	Primary hematopoietic stem cells	blood
25	chr5:126305200-126306000	Enhancers	Fetal Thymus	thymus
26	chr5:126305200-126307400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:126305200-126307400	Enhancers	Left Ventricle	heart
28	chr5:126305200-126308000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:126305200-126308600	Enhancers	Right Ventricle	heart
30	chr5:126305200-126309000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:126305400-126307400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:126305400-126309200	Enhancers	HUVEC	blood vessel
33	chr5:126305600-126305800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:126305600-126306000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:126305600-126306200	Weak transcription	NHDF-Ad	bronchial
36	chr5:126305600-126307600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:126305600-126308000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:126305600-126308000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:126305600-126308400	Enhancers	Osteobl	bone

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