Variant report

Variant	rs9807932
Chromosome Location	chr2:46952758-46952759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10164807	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10172110	0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190001	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11125088	1.00[AMR][1000 genomes]
rs13399271	0.87[AFR][1000 genomes]
rs13399713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402553	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418951	1.00[AMR][1000 genomes]
rs28702871	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41409850	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41483445	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55817465	0.85[AFR][1000 genomes]
rs6711782	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6714964	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716072	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759784	1.00[AMR][1000 genomes]
rs6760403	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73926574	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73926585	1.00[AMR][1000 genomes]
rs7566758	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808073	1.00[AMR][1000 genomes]
rs9808427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46953400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:46946800-46953000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:46947000-46954600	Weak transcription	HUVEC	blood vessel
5	chr2:46947000-46954800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:46947600-46975600	Weak transcription	HSMM	muscle
7	chr2:46948000-46954600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:46948000-46954600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:46948000-46954600	Weak transcription	Thymus	Thymus
10	chr2:46948200-46953000	Enhancers	A549	lung
11	chr2:46948200-46954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:46948200-46954600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:46948200-46954600	Weak transcription	Left Ventricle	heart
14	chr2:46948200-46954600	Weak transcription	Right Ventricle	heart
15	chr2:46948200-46954800	Weak transcription	Pancreas	Pancrea
16	chr2:46948200-46955000	Weak transcription	Ovary	ovary
17	chr2:46948200-46955800	Weak transcription	Lung	lung
18	chr2:46948200-46956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:46948200-46962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:46948200-46964400	Weak transcription	NHEK	skin
21	chr2:46948200-46967400	Weak transcription	Esophagus	oesophagus
22	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
24	chr2:46948400-46954600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:46948400-46954800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:46948400-46961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:46948600-46954600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:46948600-46964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:46948600-46964400	Weak transcription	NH-A	brain
30	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
31	chr2:46948800-46955200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:46949000-46954600	Weak transcription	Psoas Muscle	Psoas
33	chr2:46949000-46954600	Weak transcription	Small Intestine	intestine
34	chr2:46949000-46954800	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:46949400-46953800	Enhancers	HepG2	liver
36	chr2:46949600-46958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:46949800-46954600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:46950000-46954600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:46950600-46953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:46950800-46952800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:46950800-46952800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:46950800-46954600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:46950800-46958200	Weak transcription	NHLF	lung
44	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
45	chr2:46951400-46954600	Weak transcription	Fetal Heart	heart
46	chr2:46951400-46962200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:46951600-46954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:46951600-46954600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:46951800-46952800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:46951800-46952800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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