Variant report

Variant	rs3102445
Chromosome Location	chr4:143129102-143129103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143120582..143123051-chr4:143127171..143130077,2	MCF-7	breast:
2	chr4:143092506..143095371-chr4:143126612..143129573,2	MCF-7	breast:
3	chr4:143122005..143123779-chr4:143127335..143129791,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1343812	0.91[ASN][1000 genomes]
rs173045	0.87[EUR][1000 genomes]
rs1907120	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1994216	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994217	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627798	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2627804	0.88[ASN][1000 genomes]
rs2627823	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627832	0.83[AMR][1000 genomes]
rs2627833	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2636674	0.92[EUR][1000 genomes]
rs2636682	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2645808	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2645815	0.92[EUR][1000 genomes]
rs3102440	0.82[AMR][1000 genomes]
rs3102447	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:143082000-143130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:143092400-143131000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
8	chr4:143112600-143137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:143114600-143150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:143116800-143141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:143120600-143130000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:143122400-143132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:143122600-143143600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:143123000-143130200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:143123600-143129200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:143125200-143133800	Weak transcription	Fetal Heart	heart
17	chr4:143126000-143130400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:143126200-143131200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:143126400-143129600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:143126400-143129800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:143126800-143130200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr4:143127000-143130200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:143127000-143130800	Weak transcription	A549	lung
24	chr4:143127200-143129200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:143127400-143129200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:143127400-143129400	Strong transcription	HMEC	breast
27	chr4:143127400-143130800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:143127600-143129800	Weak transcription	Ovary	ovary
29	chr4:143127800-143129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:143127800-143129600	Strong transcription	HSMM	muscle
31	chr4:143128000-143129200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:143128000-143129200	Strong transcription	NHEK	skin
33	chr4:143128000-143130200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:143128200-143129600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:143128400-143129200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr4:143128800-143132200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:143128800-143135000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:143128800-143157200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
40	chr4:143129000-143131600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:143129000-143133800	Weak transcription	Primary T cells from cord blood	blood
42	chr4:143129000-143134800	Weak transcription	HSMMtube	muscle
43	chr4:143129000-143153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:143129000-143155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:143129000-143157200	Weak transcription	Dnd41	blood

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