Variant report

Variant	rs9927250
Chromosome Location	chr16:31506900-31506901
allele	A/G
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	chr16:31506739-31506950	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:31506672-31506901	K562	blood:	n/a	n/a
3	POLR2A	chr16:31506893-31506990	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31505926..31509513-chr16:31519166..31521852,3	K562	blood:
2	chr16:31502081..31506584-chr16:31506817..31510870,6	K562	blood:
3	chr16:31497480..31508766-chr16:31514543..31521176,19	MCF-7	breast:
4	chr16:31499615..31502036-chr16:31506018..31508250,2	K562	blood:

Variant related genes	Relation type
C16orf58	TF binding region
ENSG00000260625	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000260740	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3813002	0.95[JPT][hapmap]
rs4536493	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31499800-31509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:31499800-31509600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:31499800-31512200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:31499800-31512200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:31499800-31516200	Weak transcription	GM12878-XiMat	blood
6	chr16:31499800-31517200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:31499800-31517400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:31500000-31508200	Weak transcription	Primary B cells from cord blood	blood
9	chr16:31500200-31507400	Weak transcription	HMEC	breast
10	chr16:31500200-31508000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:31500200-31508400	Weak transcription	NHEK	skin
12	chr16:31500200-31511400	Weak transcription	NH-A	brain
13	chr16:31500200-31512200	Strong transcription	Fetal Intestine Small	intestine
14	chr16:31500400-31507400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:31500400-31512200	Strong transcription	NHLF	lung
16	chr16:31500400-31514200	Weak transcription	Fetal Heart	heart
17	chr16:31500400-31518000	Weak transcription	Small Intestine	intestine
18	chr16:31500600-31512200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:31500600-31512200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:31500600-31512200	Strong transcription	Fetal Muscle Leg	muscle
21	chr16:31500600-31518200	Weak transcription	Stomach Mucosa	stomach
22	chr16:31500800-31512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:31500800-31512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:31500800-31512000	Strong transcription	Fetal Intestine Large	intestine
25	chr16:31500800-31512200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:31500800-31512200	Strong transcription	Fetal Stomach	stomach
27	chr16:31500800-31512600	Strong transcription	Placenta	Placenta
28	chr16:31501000-31512000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:31501000-31512000	Strong transcription	Brain Anterior Caudate	brain
30	chr16:31501000-31512000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr16:31501000-31512200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:31501000-31512200	Strong transcription	Adipose Nuclei	Adipose
33	chr16:31501000-31512200	Strong transcription	Ovary	ovary
34	chr16:31501000-31512200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr16:31501000-31512200	Strong transcription	Right Ventricle	heart
36	chr16:31501000-31512400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr16:31501200-31511800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:31501200-31512000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:31501200-31512000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr16:31501200-31512000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:31501200-31512200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:31501200-31512200	Strong transcription	Primary T cells from cord blood	blood
43	chr16:31501200-31512200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:31501200-31512200	Strong transcription	Brain Germinal Matrix	brain
45	chr16:31501200-31512200	Strong transcription	Brain Hippocampus Middle	brain
46	chr16:31501200-31512200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr16:31501200-31512200	Strong transcription	Fetal Lung	lung
48	chr16:31501200-31512200	Strong transcription	Pancreas	Pancrea
49	chr16:31501200-31512200	Strong transcription	HepG2	liver
50	chr16:31501200-31512400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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