Variant report

Variant	rs4775048
Chromosome Location	chr15:58748517-58748518
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58742210..58745056-chr15:58745443..58748993,3	K562	blood:
2	chr15:58739121..58741793-chr15:58746543..58749268,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11631153	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11631312	1.00[CEU][hapmap]
rs11631896	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12911658	1.00[CEU][hapmap]
rs17190566	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs41292486	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4775050	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7182229	1.00[CEU][hapmap]
rs73422607	0.99[ASN][1000 genomes]
rs936960	1.00[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv904267	chr15:58699010-58769583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1047048	chr15:58701400-58784800	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1043362	chr15:58726337-58756571	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv457173	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv569600	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4775048	LIPC	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58737400-58749800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:58737400-58761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:58739600-58749600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:58740400-58748800	Weak transcription	NHLF	lung
5	chr15:58740400-58749800	Weak transcription	Adipose Nuclei	Adipose
6	chr15:58740600-58749600	Weak transcription	Small Intestine	intestine
7	chr15:58740800-58749600	Weak transcription	Liver	Liver
8	chr15:58740800-58749600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:58743800-58770400	Enhancers	Fetal Thymus	thymus
10	chr15:58744200-58751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:58745000-58748600	Enhancers	Fetal Muscle Leg	muscle
12	chr15:58745200-58751400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:58746200-58749800	Enhancers	GM12878-XiMat	blood
14	chr15:58746600-58749600	Weak transcription	Lung	lung
15	chr15:58746800-58749800	Weak transcription	Primary T cells from cord blood	blood
16	chr15:58747000-58748600	Weak transcription	Pancreas	Pancrea
17	chr15:58747000-58749400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:58747000-58749600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr15:58747000-58749600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:58747000-58749600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:58747000-58749600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:58747000-58749600	Weak transcription	Osteobl	bone
23	chr15:58747000-58751400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:58747000-58752600	Weak transcription	Right Ventricle	heart
25	chr15:58747200-58749600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:58747400-58749600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:58747400-58749600	Weak transcription	HMEC	breast
28	chr15:58747400-58749600	Weak transcription	NHDF-Ad	bronchial
29	chr15:58747400-58749800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:58747600-58749400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:58747600-58749600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr15:58747600-58749600	Weak transcription	K562	blood
33	chr15:58747600-58749800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:58747600-58750000	Weak transcription	Stomach Mucosa	stomach
35	chr15:58747600-58750800	Weak transcription	Brain Substantia Nigra	brain
36	chr15:58747600-58754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:58747800-58749600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:58747800-58749600	Weak transcription	HSMMtube	muscle
39	chr15:58747800-58750000	Weak transcription	Thymus	Thymus
40	chr15:58747800-58750000	Weak transcription	Dnd41	blood
41	chr15:58747800-58750600	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:58747800-58754400	Weak transcription	Brain Anterior Caudate	brain
43	chr15:58748200-58748800	Enhancers	Left Ventricle	heart
44	chr15:58748200-58749400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:58748200-58749400	Weak transcription	HSMM	muscle
46	chr15:58748200-58749800	Enhancers	Fetal Muscle Trunk	muscle
47	chr15:58748200-58754000	Enhancers	Spleen	Spleen
48	chr15:58748400-58749800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:58748400-58749800	Weak transcription	HepG2	liver
50	chr15:58748400-58755000	Weak transcription	Gastric	stomach

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