Variant report

Variant	rs6435553
Chromosome Location	chr2:210984670-210984671
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048697	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1990513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2192323	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2539872	0.82[AFR][1000 genomes]
rs263677	1.00[AMR][1000 genomes]
rs2887881	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063963	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065813	1.00[AMR][1000 genomes]
rs73065817	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:210956000-210990200	Weak transcription	HSMMtube	muscle
3	chr2:210963400-210995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:210965000-211009800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:210976400-210991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:210977000-210988800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:210978000-211010600	Weak transcription	Small Intestine	intestine
8	chr2:210978200-211009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:210979200-211005000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:210979400-210987800	Weak transcription	Adipose Nuclei	Adipose
11	chr2:210980000-210990200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:210980400-210985600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:210981000-210986000	Weak transcription	Psoas Muscle	Psoas
14	chr2:210981200-210990000	Weak transcription	Liver	Liver
15	chr2:210981200-210991200	Weak transcription	Left Ventricle	heart
16	chr2:210981200-210992400	Weak transcription	Lung	lung
17	chr2:210981400-210984800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:210981400-210986400	Weak transcription	Right Ventricle	heart
19	chr2:210981400-210990600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:210981400-211009600	Weak transcription	Pancreas	Pancrea
21	chr2:210981400-211009800	Weak transcription	Gastric	stomach
22	chr2:210981600-211009600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:210982200-210985600	Weak transcription	Fetal Lung	lung
24	chr2:210982200-211001800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:210982400-210986000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:210982400-210990600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:210983200-210985200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr2:210983400-210990200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:210983600-210984800	Weak transcription	Aorta	Aorta
30	chr2:210983600-210990400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:210983600-210990400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:210983600-210991200	Weak transcription	Thymus	Thymus
33	chr2:210983600-211009600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:210984000-210985000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr2:210984200-210985000	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr2:210984200-210985400	ZNF genes & repeats	Fetal Brain Female	brain
37	chr2:210984400-210984800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr2:210984400-210984800	ZNF genes & repeats	Fetal Kidney	kidney
39	chr2:210984400-210985200	ZNF genes & repeats	Fetal Thymus	thymus
40	chr2:210984600-210984800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:210984600-210985000	Strong transcription	Primary T cells from cord blood	blood
42	chr2:210984600-210985000	ZNF genes & repeats	Ovary	ovary
43	chr2:210984600-210985200	ZNF genes & repeats	Primary B cells from cord blood	blood

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