Variant report

Variant	rs73787405
Chromosome Location	chr5:126351559-126351560
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	chr5:126351284..126355566-chr5:126362544..126367406,6	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	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2240530	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55736801	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55780389	1.00[ASN][1000 genomes]
rs55807699	0.89[ASN][1000 genomes]
rs55887767	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55926617	1.00[ASN][1000 genomes]
rs55958512	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56063325	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56102558	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56298765	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57273792	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57394214	0.89[ASN][1000 genomes]
rs57448612	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57496473	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57691405	0.83[AFR][1000 genomes]
rs58170839	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59022768	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59255338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59584486	0.89[ASN][1000 genomes]
rs59722252	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60381307	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60409361	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61137046	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61563447	1.00[ASN][1000 genomes]
rs61563838	0.89[ASN][1000 genomes]
rs73783474	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783479	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783483	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783485	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783486	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783489	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783491	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783494	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783499	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783500	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783511	1.00[ASN][1000 genomes]
rs73783517	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783518	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783519	0.89[ASN][1000 genomes]
rs73783522	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73786208	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786211	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786236	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786237	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786243	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786248	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786254	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786256	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786257	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786289	1.00[ASN][1000 genomes]
rs73786297	1.00[ASN][1000 genomes]
rs73786300	1.00[ASN][1000 genomes]
rs73786301	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786302	1.00[AMR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126320800-126356000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126334400-126363000	Weak transcription	Ovary	ovary
3	chr5:126345600-126362400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:126347800-126359600	Weak transcription	Psoas Muscle	Psoas
5	chr5:126347800-126360000	Weak transcription	Brain Substantia Nigra	brain
6	chr5:126347800-126362800	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:126347800-126365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:126348600-126351800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:126349200-126364400	Weak transcription	Primary T cells from cord blood	blood
10	chr5:126349400-126351600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr5:126349600-126351800	Enhancers	HUVEC	blood vessel
12	chr5:126350000-126351600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:126350200-126362800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:126350400-126352000	Enhancers	HSMM	muscle
15	chr5:126350400-126355400	Weak transcription	GM12878-XiMat	blood
16	chr5:126350800-126351800	Enhancers	K562	blood
17	chr5:126351000-126351600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:126351000-126351600	Enhancers	Small Intestine	intestine
19	chr5:126351000-126351800	Enhancers	Adipose Nuclei	Adipose
20	chr5:126351000-126351800	Enhancers	Fetal Heart	heart
21	chr5:126351000-126351800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:126351200-126352000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr5:126351200-126355000	Weak transcription	Primary B cells from cord blood	blood
24	chr5:126351200-126359600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:126351400-126351800	Enhancers	Left Ventricle	heart
26	chr5:126351400-126354800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:126351400-126360600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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