Variant report

Variant	rs13394227
Chromosome Location	chr2:10146621-10146622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10179034	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10203214	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10203322	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1052835	0.96[ASN][1000 genomes]
rs1052838	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11246	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13385356	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465638	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1594398	0.98[ASN][1000 genomes]
rs1594399	0.99[ASN][1000 genomes]
rs16867280	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864537	0.99[ASN][1000 genomes]
rs1864538	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099204	0.81[AMR][1000 genomes]
rs2163338	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791749	0.96[ASN][1000 genomes]
rs3791750	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668661	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669515	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669516	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751681	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596286	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930137	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs934303	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:10125000-10147600	Weak transcription	K562	blood
4	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
5	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:10131600-10149600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:10132200-10146800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:10132400-10146800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:10134200-10147000	Weak transcription	HSMMtube	muscle
10	chr2:10134800-10150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:10137000-10148000	Weak transcription	Hela-S3	cervix
12	chr2:10137600-10146800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:10137600-10149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:10139600-10147000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:10139800-10150400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:10141000-10147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:10141400-10146800	Weak transcription	Lung	lung
18	chr2:10141600-10160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:10142000-10147600	Weak transcription	HepG2	liver
20	chr2:10142400-10148200	Enhancers	Adipose Nuclei	Adipose
21	chr2:10142600-10147000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:10142800-10148000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:10143800-10147200	Weak transcription	Osteobl	bone
24	chr2:10144200-10146800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:10144200-10146800	Weak transcription	Esophagus	oesophagus
26	chr2:10144400-10147200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:10144800-10147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:10145800-10146800	Weak transcription	NHDF-Ad	bronchial
29	chr2:10145800-10151000	Enhancers	Pancreas	Pancrea
30	chr2:10146200-10146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:10146400-10146800	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:10146400-10146800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:10146400-10146800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr2:10146400-10146800	Enhancers	HMEC	breast
35	chr2:10146400-10147000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr2:10146400-10147000	Enhancers	Fetal Brain Male	brain
37	chr2:10146400-10147000	Active TSS	Fetal Brain Female	brain
38	chr2:10146400-10147000	Flanking Active TSS	Right Ventricle	heart
39	chr2:10146400-10147000	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr2:10146400-10147000	Enhancers	HUVEC	blood vessel
41	chr2:10146400-10147200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:10146400-10147200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr2:10146400-10147200	Enhancers	Ovary	ovary
44	chr2:10146400-10147400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:10146400-10147600	Enhancers	Left Ventricle	heart
46	chr2:10146400-10148000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:10146400-10148800	Enhancers	Liver	Liver
48	chr2:10146400-10148800	Enhancers	Gastric	stomach
49	chr2:10146400-10150800	Enhancers	Colon Smooth Muscle	Colon
50	chr2:10146400-10150800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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