Variant report

Variant	rs336359
Chromosome Location	chr4:142947611-142947612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:142946395..142950633-chr4:142951002..142956006,4	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10018891	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519621	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs173060	0.90[EUR][1000 genomes]
rs1845971	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1912713	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1912714	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1912715	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1988510	1.00[EUR][1000 genomes]
rs1988511	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2645809	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2645825	1.00[EUR][1000 genomes]
rs2645827	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2645828	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667082	1.00[EUR][1000 genomes]
rs2667087	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667088	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667089	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667090	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667091	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667120	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336337	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336338	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336339	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336340	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336341	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336343	1.00[EUR][1000 genomes]
rs336344	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336345	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336347	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336348	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336351	1.00[EUR][1000 genomes]
rs336352	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336354	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336355	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336356	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336362	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336363	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337232	0.90[EUR][1000 genomes]
rs6848572	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][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	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv830096	chr4:142867099-143023761	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv428775	chr4:142943213-143050195	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142940600-142948400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:142941800-142957800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:142942000-142953200	Weak transcription	Right Ventricle	heart
4	chr4:142942200-142949000	Weak transcription	Primary T cells from cord blood	blood
5	chr4:142942200-142949000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:142942400-142949200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:142943400-142949000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:142943800-142965400	Weak transcription	Aorta	Aorta
9	chr4:142944000-142948800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:142944200-142948400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:142944200-142955600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:142944200-142958600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:142944200-142962800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:142945400-142951400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:142945400-142954800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:142945400-142983200	Weak transcription	Left Ventricle	heart
17	chr4:142945600-142948000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:142945600-142948200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:142945600-142949000	Weak transcription	NHEK	skin
20	chr4:142945600-142953400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:142945600-142955800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:142945800-142949800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:142947000-142948600	Weak transcription	HMEC	breast
24	chr4:142947000-142948600	Weak transcription	HSMM	muscle
25	chr4:142947400-142958000	Weak transcription	HSMMtube	muscle
26	chr4:142947600-142949000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:142947600-142949200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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