Variant report

Variant	rs16961592
Chromosome Location	chr18:28849754-28849755
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	chr18:28681468..28683863-chr18:28849493..28851108,2	K562	blood:

Variant related genes	Relation type
ENSG00000265888	Chromatin interaction
ENSG00000134755	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1365290	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961568	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961573	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961588	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961601	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961605	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961609	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961613	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961641	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16961648	0.93[AMR][1000 genomes]
rs16961679	0.87[AMR][1000 genomes]
rs17728162	0.83[ASN][1000 genomes]
rs17728400	0.88[EUR][1000 genomes]
rs17801172	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17801274	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912319	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56697971	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59592286	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59593146	0.88[EUR][1000 genomes]
rs59844732	0.93[AMR][1000 genomes]
rs60220975	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62087705	0.86[AMR][1000 genomes]
rs62087706	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087750	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087751	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087754	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087755	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087756	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62088669	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62088670	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62088672	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62088673	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088674	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088676	0.82[EUR][1000 genomes]
rs62088713	0.88[EUR][1000 genomes]
rs6506905	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506907	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234474	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7237750	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8096678	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28847600-28850400	Enhancers	Fetal Intestine Small	intestine
2	chr18:28847800-28850800	Enhancers	Fetal Intestine Large	intestine
3	chr18:28848000-28849800	Enhancers	NHEK	skin
4	chr18:28848200-28854800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:28848800-28850800	Enhancers	Liver	Liver
6	chr18:28849000-28849800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr18:28849000-28850000	Enhancers	Small Intestine	intestine
8	chr18:28849200-28849800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:28849200-28849800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:28849200-28850000	Enhancers	Fetal Heart	heart
11	chr18:28849200-28853800	Weak transcription	A549	lung
12	chr18:28849400-28849800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr18:28849400-28850200	Enhancers	GM12878-XiMat	blood
14	chr18:28849400-28854200	Weak transcription	HMEC	breast
15	chr18:28849400-28854800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:28849400-28854800	Weak transcription	Hela-S3	cervix
17	chr18:28849400-28854800	Weak transcription	NH-A	brain
18	chr18:28849400-28855000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:28849600-28850200	Enhancers	Stomach Mucosa	stomach
20	chr18:28849600-28853800	Weak transcription	HepG2	liver
21	chr18:28849600-28854200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr18:28849600-28854200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:28849600-28854200	Weak transcription	Rectal Mucosa Donor 31	rectum

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