Variant report

Variant	rs1249909
Chromosome Location	chr3:112392281-112392282
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1154270	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs1249912	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859934	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61418949	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs820569	0.84[AFR][1000 genomes]
rs820571	0.83[AFR][1000 genomes]
rs820572	0.83[AFR][1000 genomes]
rs820573	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112388000-112395800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:112388600-112393200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr3:112389000-112392800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:112389000-112393400	Enhancers	Primary T cells from cord blood	blood
5	chr3:112389000-112394000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr3:112389000-112394000	Enhancers	HSMM	muscle
7	chr3:112389200-112396800	Enhancers	Osteobl	bone
8	chr3:112389400-112392800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:112389600-112395200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:112389600-112395800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:112389600-112396200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:112389800-112394200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:112389800-112395200	Enhancers	NHDF-Ad	bronchial
14	chr3:112390200-112392400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:112390200-112393200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr3:112390200-112393400	Enhancers	NH-A	brain
17	chr3:112390400-112392600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:112390400-112393600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:112390400-112395800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:112391000-112395400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:112391200-112395200	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:112391200-112395200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:112391200-112395800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:112391400-112395200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:112391400-112407800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:112391600-112394200	Weak transcription	NHEK	skin
27	chr3:112391600-112394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:112391600-112395400	Enhancers	A549	lung
29	chr3:112391600-112395600	Weak transcription	Fetal Lung	lung
30	chr3:112391800-112392600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:112391800-112393000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:112391800-112393000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:112391800-112393000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:112391800-112393000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr3:112391800-112393400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:112391800-112393600	Enhancers	HSMMtube	muscle
37	chr3:112391800-112394000	Enhancers	NHLF	lung
38	chr3:112391800-112395000	Weak transcription	Hela-S3	cervix
39	chr3:112391800-112395200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:112391800-112395400	Weak transcription	Thymus	Thymus
41	chr3:112391800-112395800	Weak transcription	Spleen	Spleen
42	chr3:112392000-112392400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:112392000-112394200	Weak transcription	K562	blood
44	chr3:112392000-112395200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:112392000-112395200	Weak transcription	Placenta	Placenta
46	chr3:112392000-112395400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:112392000-112397200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:112392200-112392600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:112392200-112393200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:112392200-112395000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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