Variant report

Variant	rs2449492
Chromosome Location	chr3:101454385-101454386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2449493	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2466369	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2611836	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2611840	0.83[ASN][1000 genomes]
rs2625282	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2625283	0.83[ASN][1000 genomes]
rs2625289	0.80[EUR][1000 genomes]
rs2722162	0.83[ASN][1000 genomes]
rs2722166	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101444600-101454800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:101445400-101455600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:101445400-101455600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:101445600-101454600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr3:101445600-101456400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:101445600-101497400	Weak transcription	Fetal Heart	heart
7	chr3:101445800-101454400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr3:101445800-101454600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:101445800-101454800	Strong transcription	Fetal Thymus	thymus
10	chr3:101445800-101456200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr3:101445800-101456200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:101446200-101455600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:101446200-101455600	Strong transcription	Thymus	Thymus
14	chr3:101446200-101455600	Strong transcription	Dnd41	blood
15	chr3:101446200-101455800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:101446200-101455800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:101446200-101456000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:101446400-101454400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:101446400-101455600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:101446800-101455400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:101446800-101455800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:101447000-101455800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:101447000-101455800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:101447000-101455800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:101447200-101455600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:101447800-101455600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:101447800-101455800	Strong transcription	Left Ventricle	heart
28	chr3:101447800-101455800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr3:101448000-101456000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:101448400-101456200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:101449200-101454600	Strong transcription	GM12878-XiMat	blood
32	chr3:101449600-101455600	Strong transcription	HUVEC	blood vessel
33	chr3:101449600-101456200	Strong transcription	Primary B cells from cord blood	blood
34	chr3:101449800-101455400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:101449800-101455600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:101449800-101455600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:101449800-101455600	Strong transcription	Fetal Intestine Large	intestine
38	chr3:101449800-101456000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr3:101450000-101455400	Strong transcription	Ovary	ovary
40	chr3:101450000-101455800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:101450200-101454800	Strong transcription	Rectal Smooth Muscle	rectum
42	chr3:101450200-101455400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:101450200-101455400	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr3:101450200-101455400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:101450200-101456000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr3:101450200-101456600	Strong transcription	Primary T cells from cord blood	blood
47	chr3:101450400-101455400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:101450400-101455400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:101450400-101455800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:101450600-101454600	Strong transcription	Hela-S3	cervix

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