Variant report

Variant	rs55958512
Chromosome Location	chr5:126261286-126261287
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126260569..126263445-chr5:126268454..126270885,3	K562	blood:
2	chr5:126254514..126256052-chr5:126261032..126263860,2	K562	blood:
3	chr5:126252312..126256052-chr5:126260813..126264855,4	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

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]
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]
rs73786243	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:126254000-126261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:126255400-126272400	Weak transcription	HSMM	muscle
6	chr5:126255600-126263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:126255600-126272400	Weak transcription	HSMMtube	muscle
8	chr5:126257200-126262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:126257200-126267800	Weak transcription	Psoas Muscle	Psoas
10	chr5:126257400-126261800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:126257400-126263200	Weak transcription	Brain Substantia Nigra	brain
12	chr5:126257800-126262800	Enhancers	Fetal Heart	heart
13	chr5:126257800-126267800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:126257800-126274000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:126258000-126261400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:126258000-126261800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:126258000-126261800	Weak transcription	Right Atrium	heart
18	chr5:126258000-126262000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:126258000-126262000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:126258000-126262000	Weak transcription	Right Ventricle	heart
21	chr5:126258000-126263200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:126258000-126263200	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:126258000-126266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:126258000-126266600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:126258000-126274800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:126258200-126261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:126258200-126266600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:126259200-126261400	Weak transcription	K562	blood
29	chr5:126259400-126261800	Weak transcription	Left Ventricle	heart
30	chr5:126259600-126261800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:126259800-126262200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:126260000-126261800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:126260600-126262400	Enhancers	Brain Germinal Matrix	brain
34	chr5:126261200-126261400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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