Variant report

Variant	rs11554586
Chromosome Location	chr2:127864546-127864547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11678744	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11680911	0.81[ASN][1000 genomes]
rs11682186	0.86[ASN][1000 genomes]
rs11685593	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11689089	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11690153	0.86[AFR][1000 genomes]
rs11694264	0.86[ASN][1000 genomes]
rs1583647	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35515254	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4663104	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55646068	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55654668	0.86[ASN][1000 genomes]
rs55669136	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55828408	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56026783	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56117224	0.86[ASN][1000 genomes]
rs56193035	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56405130	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57109420	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57724183	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58402148	0.86[AFR][1000 genomes]
rs59176034	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59253801	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60447541	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60572885	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60692476	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61308109	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6714558	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72838215	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72838226	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72838284	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72838285	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72838287	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72838288	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72846701	0.86[AFR][1000 genomes]
rs749007	0.86[ASN][1000 genomes]
rs7561528	0.81[ASN][1000 genomes]
rs893433	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv459241	chr2:127800981-127868435	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583033	chr2:127800981-127868435	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875011	chr2:127800981-127868435	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875012	chr2:127800981-127895573	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1005149	chr2:127841930-127880106	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127862000-127865600	Active TSS	Psoas Muscle	Psoas
2	chr2:127862600-127864600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr2:127862600-127865400	Active TSS	HSMMtube	muscle
4	chr2:127862600-127865600	Active TSS	Rectal Smooth Muscle	rectum
5	chr2:127862800-127865400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:127862800-127865400	Active TSS	Brain Angular Gyrus	brain
7	chr2:127862800-127865400	Active TSS	Brain Substantia Nigra	brain
8	chr2:127862800-127865400	Active TSS	Fetal Kidney	kidney
9	chr2:127862800-127865600	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:127862800-127865600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:127862800-127865800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:127863000-127864600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:127863000-127864600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr2:127863000-127865200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:127863000-127865200	Active TSS	HSMM	muscle
16	chr2:127863000-127865400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:127863000-127865400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr2:127863000-127865400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:127863000-127865400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:127863000-127865400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:127863000-127865400	Active TSS	Brain Hippocampus Middle	brain
22	chr2:127863000-127865400	Active TSS	Fetal Intestine Small	intestine
23	chr2:127863000-127865400	Active TSS	Hela-S3	cervix
24	chr2:127863000-127865400	Active TSS	NHDF-Ad	bronchial
25	chr2:127863000-127865600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:127863000-127865600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:127863000-127865600	Active TSS	Brain Anterior Caudate	brain
28	chr2:127863000-127865800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr2:127863000-127865800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:127863000-127866200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:127863200-127864600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr2:127863200-127864800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr2:127863200-127865200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr2:127863200-127865200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:127863200-127865200	Active TSS	Fetal Stomach	stomach
36	chr2:127863200-127865200	Active TSS	Osteobl	bone
37	chr2:127863200-127865400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:127863200-127865400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:127863200-127865400	Active TSS	Aorta	Aorta
40	chr2:127863200-127865400	Active TSS	Colon Smooth Muscle	Colon
41	chr2:127863200-127865400	Active TSS	Fetal Lung	lung
42	chr2:127863200-127865400	Active TSS	Left Ventricle	heart
43	chr2:127863200-127865400	Active TSS	Ovary	ovary
44	chr2:127863200-127865400	Active TSS	Right Atrium	heart
45	chr2:127863200-127865600	Active TSS	Gastric	stomach
46	chr2:127863200-127865800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr2:127863400-127864600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:127863400-127864600	Flanking Active TSS	Esophagus	oesophagus
49	chr2:127863400-127864600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr2:127863400-127864800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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