Variant report

Variant	rs16892051
Chromosome Location	chr4:15494754-15494755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16892054	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892063	0.87[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs16892095	0.87[CHB][hapmap];1.00[GIH][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs16892112	0.87[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[ASN][1000 genomes]
rs16892131	0.87[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap]
rs4698389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4698390	0.85[JPT][hapmap]
rs4698397	0.87[CHB][hapmap];0.87[CHD][hapmap];1.00[YRI][hapmap]
rs73235015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235019	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73235029	0.85[ASN][1000 genomes]
rs73235033	0.93[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv966255	chr4:15490773-15496105	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16892051	LOC285550	cis	multi-tissue	Pritchard

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481600-15498600	Weak transcription	Liver	Liver
2	chr4:15481600-15519000	Weak transcription	Gastric	stomach
3	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
5	chr4:15482600-15526400	Weak transcription	HMEC	breast
6	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:15483600-15498600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:15485000-15504800	Weak transcription	Ovary	ovary
9	chr4:15486600-15499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:15487200-15498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
12	chr4:15490200-15498400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:15490400-15498800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:15490400-15519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:15490400-15539600	Weak transcription	Esophagus	oesophagus
16	chr4:15490600-15495000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:15490600-15497000	Weak transcription	Brain Substantia Nigra	brain
18	chr4:15490600-15497600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:15490600-15502400	Weak transcription	Lung	lung
20	chr4:15490600-15505000	Weak transcription	Adipose Nuclei	Adipose
21	chr4:15490600-15505200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:15490600-15510600	Weak transcription	Aorta	Aorta
23	chr4:15490600-15519000	Weak transcription	A549	lung
24	chr4:15490800-15495800	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:15490800-15498200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:15490800-15504600	Weak transcription	Fetal Kidney	kidney
27	chr4:15491000-15495800	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:15491000-15504400	Weak transcription	Fetal Intestine Large	intestine
29	chr4:15491200-15504800	Weak transcription	Osteobl	bone
30	chr4:15491600-15498400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:15491600-15498800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:15491600-15502400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:15491600-15504400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:15491600-15511400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:15491800-15516400	Weak transcription	NHLF	lung
36	chr4:15492200-15498400	Weak transcription	Fetal Lung	lung
37	chr4:15492200-15503600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:15492200-15511000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:15492400-15497200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:15492400-15505000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:15492400-15505200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:15492600-15494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:15492600-15497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:15493000-15495800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:15493400-15504400	Weak transcription	Fetal Intestine Small	intestine
46	chr4:15493400-15504800	Weak transcription	Left Ventricle	heart
47	chr4:15494000-15494800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:15494200-15498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:15494400-15495600	Enhancers	HSMMtube	muscle
50	chr4:15494400-15496000	Enhancers	Fetal Heart	heart

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