Variant report

Variant	rs16930142
Chromosome Location	chr8:48597442-48597443
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	CEBPB	chr8:48597403-48597467	A549	lung:	n/a	n/a

Variant related genes	Relation type
SPIDR	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16927308	0.94[YRI][hapmap]
rs16927336	0.94[YRI][hapmap]
rs60573041	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7463108	0.92[AFR][1000 genomes]
rs751786	0.88[AFR][1000 genomes]
rs7818094	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
3	chr8:48582200-48604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
7	chr8:48589600-48604200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:48590400-48610000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:48590600-48625200	Weak transcription	HepG2	liver
10	chr8:48590800-48607600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:48591400-48606000	Weak transcription	Right Ventricle	heart
12	chr8:48591800-48606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:48592800-48597600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:48593000-48601200	Weak transcription	Lung	lung
15	chr8:48593000-48605600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
17	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
19	chr8:48593600-48599000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:48593600-48600200	Weak transcription	Placenta	Placenta
21	chr8:48593600-48606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:48593600-48606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:48593800-48600200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:48593800-48609200	Weak transcription	Esophagus	oesophagus
27	chr8:48594000-48599600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:48594400-48597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:48594400-48597600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:48594600-48597600	Enhancers	NHDF-Ad	bronchial
31	chr8:48594600-48597800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:48595400-48597600	Enhancers	A549	lung
33	chr8:48595600-48601400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:48596000-48599600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:48596000-48603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:48596000-48604000	Weak transcription	Small Intestine	intestine
37	chr8:48596000-48604200	Weak transcription	Left Ventricle	heart
38	chr8:48596000-48604800	Weak transcription	Brain Substantia Nigra	brain
39	chr8:48596000-48605400	Weak transcription	Gastric	stomach
40	chr8:48596000-48607800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:48596200-48599600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:48596200-48599600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:48596200-48604000	Weak transcription	Brain Anterior Caudate	brain
44	chr8:48596400-48599600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:48596600-48597600	Enhancers	NHLF	lung
46	chr8:48596600-48598600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:48596800-48597600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:48597000-48610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:48597000-48610400	Weak transcription	Ovary	ovary
50	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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