Variant report

Variant	rs10519618
Chromosome Location	chr4:143000714-143000715
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	chr4:142993302..142997726-chr4:142999331..143002418,4	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10003401	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs10003713	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs10006183	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs10006284	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs10006285	0.89[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap]
rs10018345	0.80[CEU][hapmap]
rs10029467	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs10030014	0.81[JPT][hapmap]
rs10032149	0.80[CEU][hapmap]
rs10032328	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs10032526	0.80[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12330961	0.89[JPT][hapmap]
rs12498546	0.81[JPT][hapmap];0.87[MKK][hapmap];0.84[YRI][hapmap]
rs12501475	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505349	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643489	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12644579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13123463	0.80[CHD][hapmap];0.85[ASN][1000 genomes]
rs17015544	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs2270657	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs2270659	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs2276942	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs3756117	0.89[CEU][hapmap]
rs3775616	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775630	0.81[JPT][hapmap]
rs3775639	0.81[JPT][hapmap]
rs3775640	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs3775641	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs3775642	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs3775648	0.81[JPT][hapmap]
rs3775650	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs3775651	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs3775652	0.80[CEU][hapmap]
rs3775653	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs3775654	0.89[CEU][hapmap]
rs3775655	0.89[CEU][hapmap]
rs3775657	0.80[CEU][hapmap]
rs3775658	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs59505980	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6845623	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs6850756	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs72716496	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72718408	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9986085	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs9995208	0.80[CEU][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142948400-143029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:142961800-143009600	Weak transcription	A549	lung
3	chr4:142962200-143002200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:142963400-143001000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:142963400-143002200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:142966000-143010000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:142978000-143002200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:142978200-143001400	Weak transcription	Dnd41	blood
10	chr4:142978200-143006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:142985800-143011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:142988000-143015400	Weak transcription	Aorta	Aorta
13	chr4:142988200-143029400	Weak transcription	Left Ventricle	heart
14	chr4:142988400-143008600	Weak transcription	NHDF-Ad	bronchial
15	chr4:142990000-143051200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:142994000-143001200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:142995600-143001200	Weak transcription	NHEK	skin
18	chr4:142996800-143012600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:142997000-143000800	Weak transcription	Fetal Heart	heart
20	chr4:142997000-143006000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:142997400-143001200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:142997600-143001000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:142997600-143001200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:142997600-143002000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:142997600-143014000	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:142997800-143001200	Weak transcription	Primary T cells from cord blood	blood
27	chr4:142997800-143001200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:142997800-143001200	Weak transcription	HSMMtube	muscle
29	chr4:142997800-143001800	Weak transcription	HSMM	muscle
30	chr4:142997800-143002000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:142997800-143024600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:142998000-143000800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:142998200-143001800	Weak transcription	HMEC	breast
34	chr4:142999800-143002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:143000000-143001800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:143000200-143001000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:143000200-143005000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:143000200-143006400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:143000400-143003800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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