Variant report

Variant	rs56269595
Chromosome Location	chr11:65868455-65868456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1049872	0.81[AMR][1000 genomes]
rs11823726	0.88[ASN][1000 genomes]
rs12419425	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420458	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17147325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17147371	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2000672	0.81[AMR][1000 genomes]
rs33988687	0.83[AMR][1000 genomes]
rs34073119	0.81[AMR][1000 genomes]
rs3741370	0.82[ASN][1000 genomes]
rs3782081	0.82[ASN][1000 genomes]
rs3862387	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4930337	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930340	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55835736	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55944083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56314482	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61890288	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61890290	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61891827	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs873491	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65845800-65868800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:65848400-65874200	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:65849200-65879600	Weak transcription	Aorta	Aorta
5	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:65851800-65872000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:65851800-65878800	Weak transcription	HSMM	muscle
8	chr11:65852000-65874000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:65852200-65871600	Weak transcription	Hela-S3	cervix
10	chr11:65853400-65871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:65859000-65873600	Weak transcription	Fetal Intestine Small	intestine
12	chr11:65863800-65880200	Weak transcription	Fetal Stomach	stomach
13	chr11:65867200-65870600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:65867400-65869000	Enhancers	Adipose Nuclei	Adipose
15	chr11:65867400-65869200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:65867600-65868800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:65867600-65868800	Enhancers	Fetal Heart	heart
18	chr11:65867600-65869200	Enhancers	Stomach Mucosa	stomach
19	chr11:65867800-65868600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:65867800-65868600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:65867800-65868600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:65867800-65868600	Enhancers	Colon Smooth Muscle	Colon
23	chr11:65867800-65868600	Enhancers	Pancreas	Pancrea
24	chr11:65867800-65868600	Enhancers	HMEC	breast
25	chr11:65867800-65868600	Flanking Active TSS	NHEK	skin
26	chr11:65867800-65868800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr11:65867800-65869000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:65867800-65869200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:65867800-65869400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr11:65867800-65869400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:65867800-65869600	Enhancers	Dnd41	blood
32	chr11:65867800-65869800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:65868000-65868600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr11:65868000-65868600	Enhancers	Small Intestine	intestine
35	chr11:65868000-65868800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:65868000-65869000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr11:65868000-65869000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:65868000-65869200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr11:65868000-65869200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:65868000-65869200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:65868000-65869200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:65868000-65869800	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr11:65868000-65871800	Weak transcription	NH-A	brain
44	chr11:65868200-65868600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:65868200-65868600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:65868200-65868600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:65868200-65868600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:65868200-65868600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:65868200-65868600	Flanking Active TSS	Fetal Thymus	thymus
50	chr11:65868200-65868600	Enhancers	Skeletal Muscle Female	skeletal muscle

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