Variant report

Variant	rs1449257
Chromosome Location	chr2:182405231-182405232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182404574..182407560-chr2:182408390..182411205,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10180793	0.95[AFR][1000 genomes]
rs1026401	0.95[AFR][1000 genomes]
rs1037623	0.95[AFR][1000 genomes]
rs1375489	0.95[AFR][1000 genomes]
rs1449258	0.95[AFR][1000 genomes]
rs1466110	0.95[AFR][1000 genomes]
rs155117	0.95[AFR][1000 genomes]
rs155118	0.95[AFR][1000 genomes]
rs1597305	0.83[AFR][1000 genomes]
rs2198730	0.95[AFR][1000 genomes]
rs2368214	0.95[AFR][1000 genomes]
rs3863936	0.83[AFR][1000 genomes]
rs3910673	0.83[AFR][1000 genomes]
rs6706626	0.95[AFR][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:38 , 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	chr2:182356000-182406800	Strong transcription	Primary B cells from cord blood	blood
9	chr2:182358200-182405800	Strong transcription	Primary hematopoietic stem cells	blood
10	chr2:182382600-182405600	Strong transcription	Dnd41	blood
11	chr2:182382800-182406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:182383000-182405800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:182383000-182406000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:182383600-182405600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:182383600-182405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:182384200-182406000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:182384200-182406400	Strong transcription	Primary T cells from cord blood	blood
18	chr2:182389200-182410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:182389200-182410200	Weak transcription	HMEC	breast
20	chr2:182392600-182410200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:182396200-182410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:182397800-182406200	Strong transcription	GM12878-XiMat	blood
23	chr2:182398800-182405600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:182400600-182411000	Weak transcription	NH-A	brain
25	chr2:182401400-182417600	Weak transcription	NHDF-Ad	bronchial
26	chr2:182402000-182405600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:182402800-182414600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:182403000-182405400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:182403400-182406800	Weak transcription	HSMM	muscle
30	chr2:182403800-182408800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:182404200-182405800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:182404200-182406600	Weak transcription	Lung	lung
33	chr2:182404600-182405800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:182404600-182406200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:182404800-182406200	Strong transcription	Thymus	Thymus
36	chr2:182404800-182406200	Genic enhancers	HSMMtube	muscle
37	chr2:182404800-182407000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:182405200-182405800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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