Variant report

Variant	rs13405054
Chromosome Location	chr2:210931211-210931212
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10183204	1.00[AMR][1000 genomes]
rs10192256	1.00[AMR][1000 genomes]
rs10200097	1.00[AMR][1000 genomes]
rs10210462	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11885370	1.00[AMR][1000 genomes]
rs11888495	1.00[AMR][1000 genomes]
rs11888689	1.00[AMR][1000 genomes]
rs11898086	1.00[AMR][1000 genomes]
rs11898587	1.00[AMR][1000 genomes]
rs11899048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11901653	1.00[AMR][1000 genomes]
rs13395167	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13414717	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28621658	1.00[AMR][1000 genomes]
rs28668171	1.00[AMR][1000 genomes]
rs35264561	1.00[AMR][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210881800-210953000	Weak transcription	Gastric	stomach
2	chr2:210893400-210939000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:210894000-210969400	Weak transcription	Fetal Kidney	kidney
4	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
5	chr2:210913000-210937800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:210913000-210964400	Weak transcription	Primary B cells from cord blood	blood
7	chr2:210918200-210935400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:210920000-210937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:210920200-210937800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:210920200-210939600	Weak transcription	HSMMtube	muscle
11	chr2:210920200-210942800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:210920200-210963800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:210920200-210968200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:210920400-210931600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:210921000-210950800	Weak transcription	Liver	Liver
16	chr2:210921000-210977200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:210921000-210980800	Weak transcription	Esophagus	oesophagus
18	chr2:210921200-210937600	Weak transcription	Brain Anterior Caudate	brain
19	chr2:210921200-210942000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:210921600-210937200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:210921800-210937200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:210921800-210939800	Weak transcription	Adipose Nuclei	Adipose
24	chr2:210922000-210939000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:210922000-210977600	Weak transcription	Fetal Lung	lung
26	chr2:210924200-210931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:210924200-210962400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:210924200-210962400	Weak transcription	Fetal Intestine Large	intestine
29	chr2:210924200-210964800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:210924400-210942800	Weak transcription	Fetal Brain Male	brain
31	chr2:210924600-210937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:210928200-210977400	Weak transcription	Aorta	Aorta
33	chr2:210928400-210933800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:210928400-210939000	Weak transcription	Fetal Brain Female	brain
35	chr2:210928400-210945000	Weak transcription	Lung	lung
36	chr2:210928400-210971200	Weak transcription	Fetal Stomach	stomach
37	chr2:210928400-210973000	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:210928400-210977200	Weak transcription	Fetal Intestine Small	intestine
39	chr2:210928400-210977400	Weak transcription	Primary T cells from cord blood	blood
40	chr2:210928400-210980600	Weak transcription	Right Ventricle	heart
41	chr2:210929000-210940600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:210929000-210971400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:210929200-210931800	Strong transcription	Fetal Thymus	thymus
44	chr2:210929600-210977400	Weak transcription	Thymus	Thymus
45	chr2:210929800-210953000	Weak transcription	Left Ventricle	heart
46	chr2:210930600-210932000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:210931000-210932400	Strong transcription	Ovary	ovary

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