Variant report

Variant	rs8054046
Chromosome Location	chr16:31043276-31043277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:31043244-31043427	K562	blood:	n/a	n/a
2	ELF1	chr16:31043198-31043526	K562	blood:	n/a	chr16:31043335-31043348
3	SREBP2	chr16:31043144-31045147	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31005622..31010168-chr16:31042261..31047356,7	K562	blood:
2	chr16:31043007..31053782-chr16:31072765..31087431,40	MCF-7	breast:
3	chr16:31041879..31046302-chr16:31191388..31194694,4	K562	blood:
4	chr16:31043215..31044919-chr16:31118800..31122188,4	K562	blood:
5	chr16:31005622..31009984-chr16:31042414..31045630,5	K562	blood:
6	chr16:31007115..31010903-chr16:31041705..31047571,13	MCF-7	breast:
7	chr16:31043013..31046253-chr16:31082389..31087326,7	K562	blood:
8	chr16:30994885..31002476-chr16:31041204..31046530,9	MCF-7	breast:
9	chr16:30994248..30997173-chr16:31043016..31046845,4	K562	blood:
10	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
11	chr16:31043013..31047219-chr16:31082783..31087326,13	K562	blood:
12	chr16:30996405..31000424-chr16:31042886..31047088,8	MCF-7	breast:
13	chr16:31043165..31047105-chr16:31102487..31107326,5	MCF-7	breast:
14	chr16:31042749..31045217-chr16:31199190..31201398,2	K562	blood:

No data

Variant related genes	Relation type
STX4	TF binding region
ENSG00000167395	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000232748	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000103507	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17878544	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
8	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
9	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
12	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8054046	ZNF785	cis	Esophagus Muscularis	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31027800-31043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:31032200-31044000	Weak transcription	Ovary	ovary
3	chr16:31034400-31043600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr16:31035400-31043600	Weak transcription	Fetal Intestine Small	intestine
5	chr16:31037200-31043600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:31037800-31043800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:31039000-31043600	Weak transcription	Pancreas	Pancrea
8	chr16:31039400-31043400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:31039600-31043600	Weak transcription	Fetal Stomach	stomach
10	chr16:31041000-31043400	Weak transcription	HSMMtube	muscle
11	chr16:31041400-31043800	Enhancers	HepG2	liver
12	chr16:31042000-31043400	Weak transcription	Spleen	Spleen
13	chr16:31042000-31043800	Weak transcription	Primary T cells from cord blood	blood
14	chr16:31042000-31043800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:31043000-31043600	Enhancers	K562	blood
16	chr16:31043000-31043800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr16:31043000-31043800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr16:31043200-31043400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:31043200-31043400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:31043200-31043400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:31043200-31043400	Enhancers	Brain Angular Gyrus	brain
22	chr16:31043200-31043400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr16:31043200-31043400	Weak transcription	Gastric	stomach
24	chr16:31043200-31043400	Enhancers	Dnd41	blood
25	chr16:31043200-31043600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:31043200-31043600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr16:31043200-31043600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:31043200-31043600	Enhancers	Brain Germinal Matrix	brain
29	chr16:31043200-31043600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr16:31043200-31043800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr16:31043200-31043800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr16:31043200-31043800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr16:31043200-31043800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:31043200-31043800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:31043200-31043800	Enhancers	Adipose Nuclei	Adipose
36	chr16:31043200-31043800	Enhancers	Brain Cingulate Gyrus	brain
37	chr16:31043200-31043800	Enhancers	Brain Hippocampus Middle	brain
38	chr16:31043200-31043800	Enhancers	Fetal Muscle Leg	muscle
39	chr16:31043200-31043800	Enhancers	Placenta	Placenta
40	chr16:31043200-31043800	Enhancers	Fetal Thymus	thymus
41	chr16:31043200-31043800	Enhancers	Thymus	Thymus
42	chr16:31043200-31043800	Enhancers	A549	lung
43	chr16:31043200-31043800	Enhancers	HSMM	muscle
44	chr16:31043200-31043800	Enhancers	NH-A	brain
45	chr16:31043200-31043800	Enhancers	NHEK	skin
46	chr16:31043200-31044000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr16:31043200-31044000	Enhancers	Esophagus	oesophagus
48	chr16:31043200-31044000	Enhancers	Hela-S3	cervix
49	chr16:31043200-31044200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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