Variant report

Variant	rs336320
Chromosome Location	chr4:143008387-143008388
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	chr4:143006661..143009015-chr4:143011228..143013827,2	MCF-7	breast:
2	chr4:143003226..143005064-chr4:143008065..143011031,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1353603	1.00[MEX][hapmap]
rs1511248	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs1874575	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs2645786	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs2645789	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645796	1.00[MEX][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667083	0.83[AMR][1000 genomes]
rs2667117	1.00[MEX][hapmap]
rs336304	1.00[MEX][hapmap]
rs336306	1.00[MEX][hapmap]
rs336309	0.93[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs336313	1.00[MEX][hapmap]
rs336317	1.00[MEX][hapmap]
rs336325	1.00[MEX][hapmap]
rs336328	1.00[AMR][1000 genomes]
rs336329	1.00[MEX][hapmap]
rs336330	1.00[MEX][hapmap]
rs336378	1.00[MEX][hapmap]
rs336379	1.00[MEX][hapmap]
rs336381	1.00[MEX][hapmap]
rs7692727	0.83[AMR][1000 genomes]
rs7698659	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884618	0.85[YRI][hapmap];0.83[AMR][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	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
3	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
4	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
5	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:46 , 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	chr4:142966000-143010000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:142985800-143011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:142988000-143015400	Weak transcription	Aorta	Aorta
7	chr4:142988200-143029400	Weak transcription	Left Ventricle	heart
8	chr4:142988400-143008600	Weak transcription	NHDF-Ad	bronchial
9	chr4:142990000-143051200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:142996800-143012600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:142997600-143014000	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:142997800-143024600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:143001400-143040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:143001600-143010400	Weak transcription	NHEK	skin
15	chr4:143002000-143009000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:143002000-143011200	Weak transcription	HSMM	muscle
17	chr4:143002600-143010000	Weak transcription	Osteobl	bone
18	chr4:143002600-143041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:143002800-143009600	Weak transcription	Fetal Heart	heart
20	chr4:143004000-143015400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:143004000-143017000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:143004000-143021800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:143004600-143051600	Weak transcription	Pancreas	Pancrea
24	chr4:143004800-143010000	Weak transcription	HMEC	breast
25	chr4:143005400-143008400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr4:143005800-143009200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:143006000-143008400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:143006000-143008600	Strong transcription	Dnd41	blood
29	chr4:143006200-143008400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:143006200-143012200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:143006200-143016400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:143007000-143011600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:143007200-143009800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:143007200-143012600	Weak transcription	HSMMtube	muscle
35	chr4:143007200-143012800	Weak transcription	Primary T cells from cord blood	blood
36	chr4:143007200-143014000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:143007200-143015400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:143007200-143016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:143007400-143025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:143007600-143014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:143007600-143024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:143007800-143010200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:143007800-143013800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:143007800-143015400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:143008000-143012200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:143008000-143025600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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