Variant report

Variant	rs1449258
Chromosome Location	chr2:182400905-182400906
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10153755	1.00[AMR][1000 genomes]
rs10180793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206693	1.00[AMR][1000 genomes]
rs1026401	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1026404	1.00[MEX][hapmap]
rs1037623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12465604	1.00[MEX][hapmap]
rs12473700	1.00[MEX][hapmap]
rs13415157	1.00[AMR][1000 genomes]
rs13423639	1.00[AMR][1000 genomes]
rs13424840	1.00[AMR][1000 genomes]
rs1348124	1.00[AMR][1000 genomes]
rs1372125	1.00[MEX][hapmap]
rs1375489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1449257	0.95[AFR][1000 genomes]
rs1466109	1.00[MEX][hapmap]
rs1466110	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs155113	1.00[YRI][hapmap]
rs155117	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs155118	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1597305	0.87[AFR][1000 genomes]
rs2198729	1.00[MEX][hapmap]
rs2198730	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2198732	1.00[MEX][hapmap]
rs2368214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731835	1.00[MEX][hapmap]
rs3863936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3910673	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4404231	1.00[AMR][1000 genomes]
rs4667315	1.00[MEX][hapmap]
rs57055225	1.00[AMR][1000 genomes]
rs6706626	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6714695	1.00[MEX][hapmap]
rs6730994	1.00[AMR][1000 genomes]
rs73974897	1.00[AMR][1000 genomes]
rs9653241	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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
4	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
5	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:182349600-182405800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:182353800-182404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:182356000-182406800	Strong transcription	Primary B cells from cord blood	blood
10	chr2:182358200-182405800	Strong transcription	Primary hematopoietic stem cells	blood
11	chr2:182382600-182405600	Strong transcription	Dnd41	blood
12	chr2:182382800-182406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:182383000-182404600	Weak transcription	Esophagus	oesophagus
14	chr2:182383000-182405800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:182383000-182406000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:182383400-182404600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:182383600-182405600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:182383600-182405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:182384200-182406000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:182384200-182406400	Strong transcription	Primary T cells from cord blood	blood
21	chr2:182386000-182404600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:182386200-182402800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:182387000-182403400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:182389200-182410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:182389200-182410200	Weak transcription	HMEC	breast
26	chr2:182390000-182404800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:182391000-182404800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:182392600-182410200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:182394000-182404200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:182395600-182404800	Weak transcription	Small Intestine	intestine
31	chr2:182396200-182410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:182396600-182401000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:182397000-182404800	Weak transcription	Fetal Intestine Large	intestine
34	chr2:182397600-182404600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:182397800-182406200	Strong transcription	GM12878-XiMat	blood
36	chr2:182398000-182401000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:182398000-182401400	Strong transcription	NHDF-Ad	bronchial
38	chr2:182398000-182403600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:182398000-182403800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:182398400-182403200	Strong transcription	HSMMtube	muscle
41	chr2:182398400-182404200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:182398800-182405600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:182399200-182401000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:182399200-182401600	Strong transcription	HSMM	muscle
45	chr2:182399400-182401600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:182399400-182401600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:182399400-182401600	Weak transcription	Thymus	Thymus
48	chr2:182400400-182404200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:182400600-182411000	Weak transcription	NH-A	brain

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