Variant report

Variant	rs2221379
Chromosome Location	chr3:105586538-105586539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105525619..105527234-chr3:105585628..105587643,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1020327	1.00[AMR][1000 genomes]
rs1025885	1.00[AMR][1000 genomes]
rs1025886	1.00[AMR][1000 genomes]
rs1036877	1.00[AMR][1000 genomes]
rs1039545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10933832	1.00[AMR][1000 genomes]
rs1348348	1.00[AMR][1000 genomes]
rs1443099	1.00[AMR][1000 genomes]
rs1443107	1.00[AMR][1000 genomes]
rs1503922	1.00[AMR][1000 genomes]
rs1548056	1.00[AMR][1000 genomes]
rs1561920	1.00[AMR][1000 genomes]
rs1822348	1.00[AMR][1000 genomes]
rs1838045	1.00[AMR][1000 genomes]
rs1867428	1.00[AMR][1000 genomes]
rs1867429	1.00[AMR][1000 genomes]
rs1963622	1.00[AMR][1000 genomes]
rs1992520	1.00[AMR][1000 genomes]
rs2197351	1.00[AMR][1000 genomes]
rs3862049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4243428	1.00[AMR][1000 genomes]
rs4282093	1.00[AMR][1000 genomes]
rs4613490	1.00[AMR][1000 genomes]
rs4894945	1.00[AMR][1000 genomes]
rs4894947	1.00[AMR][1000 genomes]
rs4894948	1.00[AMR][1000 genomes]
rs4894959	1.00[AMR][1000 genomes]
rs4894961	1.00[AMR][1000 genomes]
rs6437615	1.00[AMR][1000 genomes]
rs6437617	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6437625	1.00[AMR][1000 genomes]
rs6765716	1.00[AMR][1000 genomes]
rs6768096	1.00[AMR][1000 genomes]
rs6791888	0.82[AFR][1000 genomes]
rs6804286	1.00[AMR][1000 genomes]
rs6805573	0.94[AFR][1000 genomes]
rs6805675	1.00[AMR][1000 genomes]
rs7622735	1.00[AMR][1000 genomes]
rs7643647	1.00[AMR][1000 genomes]
rs7649437	1.00[AMR][1000 genomes]
rs9288816	1.00[AMR][1000 genomes]
rs9288819	1.00[AMR][1000 genomes]
rs9288820	1.00[AMR][1000 genomes]
rs976961	1.00[AMR][1000 genomes]
rs976962	1.00[AMR][1000 genomes]
rs9809911	1.00[AMR][1000 genomes]
rs9811870	1.00[AMR][1000 genomes]
rs981479	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9830539	1.00[AMR][1000 genomes]
rs9831221	1.00[AMR][1000 genomes]
rs9833645	1.00[AMR][1000 genomes]
rs9838768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9859644	1.00[AMR][1000 genomes]
rs9866153	0.85[AFR][1000 genomes]
rs9872290	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	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv877312	chr3:105560638-105916506	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105558600-105586600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:105563000-105586800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:105581800-105588800	Active TSS	Right Ventricle	heart
4	chr3:105582200-105588200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:105582200-105589000	Active TSS	Right Atrium	heart
6	chr3:105583200-105586800	Weak transcription	Spleen	Spleen
7	chr3:105583600-105589000	Active TSS	Left Ventricle	heart
8	chr3:105584200-105586600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:105584200-105589200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:105584400-105588600	Active TSS	HSMM	muscle
11	chr3:105584600-105588600	Active TSS	Stomach Smooth Muscle	stomach
12	chr3:105584600-105589200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:105584800-105588600	Active TSS	NHDF-Ad	bronchial
14	chr3:105585000-105586600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr3:105585000-105586800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr3:105585000-105587600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:105585000-105588400	Active TSS	Primary T cells fromperipheralblood	blood
18	chr3:105585000-105588400	Active TSS	HMEC	breast
19	chr3:105585000-105588600	Active TSS	Fetal Stomach	stomach
20	chr3:105585200-105586800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:105585200-105587200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:105585200-105587400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr3:105585200-105588400	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr3:105585200-105588400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:105585200-105588400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr3:105585200-105588400	Active TSS	Placenta	Placenta
27	chr3:105585200-105588400	Active TSS	NH-A	brain
28	chr3:105585200-105588600	Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:105585200-105588600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:105585200-105588600	Active TSS	Fetal Muscle Leg	muscle
31	chr3:105585200-105588600	Active TSS	HSMMtube	muscle
32	chr3:105585200-105588600	Active TSS	NHLF	lung
33	chr3:105585200-105588800	Active TSS	Fetal Kidney	kidney
34	chr3:105585200-105589000	Active TSS	Ovary	ovary
35	chr3:105585200-105589000	Active TSS	Psoas Muscle	Psoas
36	chr3:105585400-105587000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:105585400-105587200	Flanking Active TSS	Dnd41	blood
38	chr3:105585400-105588200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:105585400-105588400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr3:105585400-105588400	Active TSS	Fetal Brain Female	brain
41	chr3:105585400-105588800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:105585400-105588800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:105585600-105586600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr3:105585600-105586600	Flanking Active TSS	Fetal Brain Male	brain
45	chr3:105585600-105586600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr3:105585600-105586800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr3:105585600-105587200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:105585600-105588400	Active TSS	Fetal Lung	lung
49	chr3:105585600-105588600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:105585600-105588600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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