Variant report

Variant	rs56221313
Chromosome Location	chr2:128018992-128018993
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11895096	1.00[AMR][1000 genomes]
rs11899966	1.00[AMR][1000 genomes]
rs34679970	1.00[AMR][1000 genomes]
rs56013308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56273301	1.00[AMR][1000 genomes]
rs57204735	1.00[AMR][1000 genomes]
rs6717862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953256	1.00[AMR][1000 genomes]
rs7558970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7558971	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr2:128012400-128028000	Weak transcription	Hela-S3	cervix
2	chr2:128012600-128026200	Weak transcription	Stomach Mucosa	stomach
3	chr2:128012800-128019600	Strong transcription	GM12878-XiMat	blood
4	chr2:128012800-128020800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:128013000-128020200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:128013000-128020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:128013000-128020600	Strong transcription	Fetal Brain Female	brain
8	chr2:128013000-128020600	Strong transcription	Dnd41	blood
9	chr2:128013000-128020800	Strong transcription	Fetal Intestine Large	intestine
10	chr2:128013000-128021200	Strong transcription	Primary T cells from cord blood	blood
11	chr2:128013000-128021800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:128013200-128019000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr2:128013200-128019000	Strong transcription	Ovary	ovary
14	chr2:128013200-128020400	Strong transcription	HepG2	liver
15	chr2:128013200-128020600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:128013200-128020800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr2:128013400-128019000	Strong transcription	Adipose Nuclei	Adipose
18	chr2:128013400-128019000	Strong transcription	Aorta	Aorta
19	chr2:128013400-128019000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:128013400-128019200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:128013400-128019400	Strong transcription	Fetal Stomach	stomach
22	chr2:128013400-128019600	Strong transcription	Placenta	Placenta
23	chr2:128013400-128020000	Strong transcription	Lung	lung
24	chr2:128013400-128020200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:128013400-128020200	Strong transcription	Fetal Intestine Small	intestine
26	chr2:128013400-128020200	Strong transcription	Thymus	Thymus
27	chr2:128013400-128020600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:128013400-128020600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:128013400-128020800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:128013400-128020800	Strong transcription	Left Ventricle	heart
31	chr2:128013400-128022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:128013600-128019000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:128013600-128019000	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:128013600-128019800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:128013600-128020800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:128013600-128020800	Strong transcription	Liver	Liver
37	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:128013800-128019200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:128013800-128019600	Strong transcription	NH-A	brain
40	chr2:128013800-128020200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:128014000-128019000	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr2:128014000-128019000	Strong transcription	Brain Anterior Caudate	brain
43	chr2:128014000-128019000	Strong transcription	HUVEC	blood vessel
44	chr2:128014000-128019200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr2:128014000-128019200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:128014000-128019200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:128014000-128019200	Strong transcription	Fetal Lung	lung
48	chr2:128014000-128019200	Strong transcription	Osteobl	bone
49	chr2:128014000-128019400	Strong transcription	Brain Hippocampus Middle	brain
50	chr2:128014000-128019400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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