Variant report

Variant	rs559430
Chromosome Location	chr11:119775597-119775598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2441940	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4938738	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs508479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs517918	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs518932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs525588	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs542467	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs553578	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs554422	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs563372	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs583687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs596770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641896	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662733	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051526	chr11:119750335-119775811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1038232	chr11:119759344-119785065	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1044698	chr11:119767614-119789683	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1051760	chr11:119770181-119789683	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1048084	chr11:119771748-119808864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119763000-119780800	Weak transcription	Right Atrium	heart
2	chr11:119768000-119778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:119772600-119775800	Enhancers	Stomach Mucosa	stomach
4	chr11:119772600-119779800	Enhancers	Liver	Liver
5	chr11:119773200-119776000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:119773600-119776000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr11:119773600-119776200	Enhancers	Fetal Intestine Large	intestine
8	chr11:119773600-119776200	Enhancers	Fetal Intestine Small	intestine
9	chr11:119773800-119776600	Enhancers	Esophagus	oesophagus
10	chr11:119774200-119778400	Enhancers	Pancreas	Pancrea
11	chr11:119774400-119775800	Enhancers	Brain Germinal Matrix	brain
12	chr11:119774400-119777600	Weak transcription	Brain Angular Gyrus	brain
13	chr11:119774400-119778800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:119774600-119776400	Enhancers	Small Intestine	intestine
15	chr11:119774600-119776600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:119774600-119776800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:119774600-119778400	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:119774600-119778400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:119775000-119776800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr11:119775200-119780200	Enhancers	Placenta	Placenta
21	chr11:119775400-119775800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:119775400-119775800	Enhancers	Spleen	Spleen
23	chr11:119775400-119776200	Active TSS	Colonic Mucosa	Colon
24	chr11:119775400-119776600	Enhancers	Fetal Heart	heart
25	chr11:119775400-119780400	Weak transcription	Gastric	stomach

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