Variant report

Variant	rs13395515
Chromosome Location	chr2:55426586-55426587
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10175803	0.85[AFR][1000 genomes]
rs10176835	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10179352	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10193886	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10200424	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10208867	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11125559	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13420684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13427699	0.84[AFR][1000 genomes]
rs1437390	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1437393	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1669	0.83[AFR][1000 genomes]
rs2118284	0.90[AFR][1000 genomes]
rs62135101	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6545477	0.86[AFR][1000 genomes]
rs6711753	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6720077	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6727118	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6727131	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6747364	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6757361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9677948	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55395600-55427000	Weak transcription	Left Ventricle	heart
2	chr2:55395800-55427000	Weak transcription	Aorta	Aorta
3	chr2:55397200-55450000	Weak transcription	NH-A	brain
4	chr2:55402800-55450000	Weak transcription	NHDF-Ad	bronchial
5	chr2:55403200-55426800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:55403200-55431800	Weak transcription	Fetal Brain Male	brain
7	chr2:55411200-55427000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:55412800-55428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:55413000-55427000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:55413600-55427000	Weak transcription	Fetal Lung	lung
11	chr2:55414600-55427000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:55415400-55450000	Weak transcription	GM12878-XiMat	blood
13	chr2:55416000-55426800	Weak transcription	Fetal Kidney	kidney
14	chr2:55416000-55428400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:55416200-55428800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:55416800-55450000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:55417400-55450200	Weak transcription	Placenta	Placenta
18	chr2:55417800-55439200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:55417800-55450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:55418400-55433600	Weak transcription	Brain Anterior Caudate	brain
21	chr2:55419200-55427000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:55419200-55429600	Weak transcription	Fetal Intestine Large	intestine
23	chr2:55419400-55434400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:55419600-55431800	Weak transcription	Fetal Heart	heart
25	chr2:55420000-55427800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:55420400-55427800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:55420400-55433800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:55420600-55433600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:55421000-55433600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:55421800-55427400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:55421800-55432000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:55422000-55427400	Strong transcription	Fetal Stomach	stomach
33	chr2:55422200-55427000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:55422600-55427000	Weak transcription	Brain Substantia Nigra	brain
35	chr2:55422800-55428000	Strong transcription	Ovary	ovary
36	chr2:55423000-55426600	Strong transcription	Fetal Intestine Small	intestine
37	chr2:55423000-55427400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:55423200-55438800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:55423600-55431000	Weak transcription	Gastric	stomach
40	chr2:55423800-55432800	Weak transcription	Pancreas	Pancrea
41	chr2:55423800-55448000	Weak transcription	HSMM	muscle
42	chr2:55424000-55426800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:55424200-55427000	Weak transcription	Lung	lung
44	chr2:55424200-55428000	Weak transcription	Esophagus	oesophagus
45	chr2:55424200-55428400	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:55424200-55432600	Weak transcription	HSMMtube	muscle
47	chr2:55424200-55432800	Weak transcription	NHEK	skin
48	chr2:55424200-55450000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:55424400-55434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:55424400-55435000	Weak transcription	Osteobl	bone

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