Variant report

Variant	rs336332
Chromosome Location	chr4:143029822-143029823
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	chr4:143020271..143023015-chr4:143028673..143031244,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1039936	0.81[ASN][1000 genomes]
rs1511247	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs168059	0.87[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs168061	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2201696	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2292393	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2667096	0.87[CHB][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap]
rs2667101	0.87[CHB][hapmap]
rs28714697	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs336292	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs336295	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs336296	0.82[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs336297	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs336298	0.83[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs336300	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs336307	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs336308	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336312	0.81[ASN][1000 genomes]
rs336318	0.81[ASN][1000 genomes]
rs336319	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs336321	0.81[ASN][1000 genomes]
rs336323	0.81[ASN][1000 genomes]
rs336324	0.81[ASN][1000 genomes]
rs336326	0.83[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs336331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087587	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775605	0.81[LWK][hapmap];0.89[YRI][hapmap]
rs3775637	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4637485	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][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	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	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
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs336332	MAML3	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142990000-143051200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:143001400-143040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:143002600-143041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:143004600-143051600	Weak transcription	Pancreas	Pancrea
5	chr4:143010400-143043400	Weak transcription	Psoas Muscle	Psoas
6	chr4:143010400-143057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:143012400-143040600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:143014000-143035800	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:143014600-143049600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:143015800-143049600	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:143016600-143030800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:143017800-143044400	Weak transcription	Fetal Heart	heart
13	chr4:143018000-143031000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:143018200-143033400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:143022400-143030800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:143022400-143045200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:143022600-143033600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:143022600-143049600	Weak transcription	NHDF-Ad	bronchial
20	chr4:143023400-143036200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:143025400-143035800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr4:143025400-143066800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:143026400-143031600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:143026400-143031800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:143026800-143035800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:143027000-143035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:143027400-143036000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:143028600-143030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:143028600-143030800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr4:143028600-143032000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:143028600-143032400	Strong transcription	HSMM	muscle
32	chr4:143028600-143034000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:143028600-143034200	Strong transcription	Primary T cells from cord blood	blood
34	chr4:143028600-143035000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:143028600-143035200	Strong transcription	HMEC	breast
36	chr4:143028600-143036400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:143029000-143030200	Strong transcription	NHEK	skin
38	chr4:143029000-143031000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:143029000-143031800	Weak transcription	Fetal Kidney	kidney
40	chr4:143029000-143032000	Strong transcription	HSMMtube	muscle
41	chr4:143029000-143032200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:143029000-143032400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:143029000-143032800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:143029200-143030000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:143029400-143030000	Strong transcription	Left Ventricle	heart
46	chr4:143029800-143030000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:143029800-143030000	Strong transcription	Dnd41	blood

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