Variant report

Variant	rs8058014
Chromosome Location	chr16:72857544-72857545
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:72857318-72858186	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72856101..72858857-chr16:73031891..73033903,2	MCF-7	breast:

Variant related genes	Relation type
RNU7-71P	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2266943	0.81[TSI][hapmap]
rs7203453	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs740178	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8058014	MTSS1L	cis	parietal	SCAN
rs8058014	HYDIN	cis	cerebellum	SCAN
rs8058014	DPEP3	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr16:72832200-72858400	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
5	chr16:72833600-72861000	Weak transcription	Hela-S3	cervix
6	chr16:72833800-72861800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:72834800-72872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:72835200-72860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:72835200-72867400	Weak transcription	NHEK	skin
11	chr16:72845600-72858800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:72845600-72861400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:72845600-72861600	Weak transcription	Fetal Kidney	kidney
14	chr16:72845600-72869400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr16:72845800-72862200	Weak transcription	Colonic Mucosa	Colon
17	chr16:72845800-72863200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:72845800-72863200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr16:72845800-72865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:72845800-72867000	Weak transcription	Ovary	ovary
21	chr16:72846000-72858400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:72846000-72858800	Weak transcription	Fetal Intestine Small	intestine
23	chr16:72846000-72860800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:72846000-72861400	Weak transcription	Placenta	Placenta
25	chr16:72846000-72861400	Weak transcription	Left Ventricle	heart
26	chr16:72846000-72861600	Weak transcription	Gastric	stomach
27	chr16:72846000-72863200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:72846200-72858800	Weak transcription	A549	lung
29	chr16:72846600-72861400	Weak transcription	Fetal Intestine Large	intestine
30	chr16:72846600-72863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:72846800-72860800	Weak transcription	Adipose Nuclei	Adipose
32	chr16:72847000-72861600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:72847600-72858800	Weak transcription	Liver	Liver
34	chr16:72848400-72861400	Weak transcription	Aorta	Aorta
35	chr16:72848400-72861400	Weak transcription	Pancreas	Pancrea
36	chr16:72848400-72874200	Weak transcription	Right Ventricle	heart
37	chr16:72850000-72861400	Weak transcription	GM12878-XiMat	blood
38	chr16:72851800-72861400	Weak transcription	Right Atrium	heart
39	chr16:72852600-72857600	Weak transcription	Brain Substantia Nigra	brain
40	chr16:72852600-72858000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:72852600-72861200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:72852600-72866400	Weak transcription	Brain Anterior Caudate	brain
43	chr16:72853000-72857800	Weak transcription	Fetal Brain Female	brain
44	chr16:72853200-72857800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr16:72854000-72857600	Weak transcription	Fetal Stomach	stomach
46	chr16:72854000-72858400	Weak transcription	HSMM	muscle
47	chr16:72854000-72860800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:72854000-72861000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr16:72854000-72864000	Weak transcription	NH-A	brain
50	chr16:72854200-72858800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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