Variant report

Variant	rs2449493
Chromosome Location	chr3:101454514-101454515
allele	A/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:11)

rs_ID	r²[population]
rs13090844	0.80[EUR][1000 genomes]
rs2449492	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2466369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611836	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611840	1.00[ASN][1000 genomes]
rs2625282	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2625283	1.00[ASN][1000 genomes]
rs2625289	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2722162	1.00[ASN][1000 genomes]
rs2722166	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806256	0.81[AMR][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	chr3:101445800-101454600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:101445800-101454800	Strong transcription	Fetal Thymus	thymus
9	chr3:101445800-101456200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr3:101445800-101456200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:101446200-101455600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:101446200-101455600	Strong transcription	Thymus	Thymus
13	chr3:101446200-101455600	Strong transcription	Dnd41	blood
14	chr3:101446200-101455800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:101446200-101455800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr3:101446200-101456000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:101446400-101455600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:101446800-101455400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:101446800-101455800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:101447000-101455800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:101447000-101455800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:101447000-101455800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:101447200-101455600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:101447800-101455600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:101447800-101455800	Strong transcription	Left Ventricle	heart
26	chr3:101447800-101455800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr3:101448000-101456000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:101448400-101456200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:101449200-101454600	Strong transcription	GM12878-XiMat	blood
30	chr3:101449600-101455600	Strong transcription	HUVEC	blood vessel
31	chr3:101449600-101456200	Strong transcription	Primary B cells from cord blood	blood
32	chr3:101449800-101455400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:101449800-101455600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:101449800-101455600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:101449800-101455600	Strong transcription	Fetal Intestine Large	intestine
36	chr3:101449800-101456000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr3:101450000-101455400	Strong transcription	Ovary	ovary
38	chr3:101450000-101455800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:101450200-101454800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr3:101450200-101455400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:101450200-101455400	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr3:101450200-101455400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:101450200-101456000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr3:101450200-101456600	Strong transcription	Primary T cells from cord blood	blood
45	chr3:101450400-101455400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:101450400-101455400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:101450400-101455800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:101450600-101454600	Strong transcription	Hela-S3	cervix
49	chr3:101450600-101455400	Strong transcription	NHLF	lung
50	chr3:101450600-101455600	Strong transcription	Muscle Satellite Cultured Cells	--

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