Variant report

Variant	rs548069516
Chromosome Location	chr4:16180597-16180598
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	RFX5	chr4:16180596-16180808	HepG2	liver:	n/a	chr4:16180715-16180730
2	POLR2A	chr4:16180103-16181748	K562	blood:	n/a	n/a

Variant related genes	Relation type
TAPT1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3492272	chr4:16179299-16181002	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3492273	chr4:16179299-16181002	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16160400-16182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:16161000-16182600	Strong transcription	Fetal Thymus	thymus
3	chr4:16161600-16181800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:16161600-16182600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:16161600-16182800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:16161600-16186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:16161800-16193200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:16162200-16182800	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:16162600-16183200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr4:16163000-16182800	Strong transcription	Liver	Liver
11	chr4:16163000-16183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:16163000-16183200	Strong transcription	Placenta	Placenta
13	chr4:16163200-16183400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:16163200-16183400	Weak transcription	Hela-S3	cervix
15	chr4:16163200-16195800	Weak transcription	HMEC	breast
16	chr4:16164000-16181800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:16164200-16183000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr4:16164400-16181000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr4:16164400-16195000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:16164800-16183000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:16165000-16190800	Weak transcription	HUVEC	blood vessel
22	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:16168200-16187400	Weak transcription	Osteobl	bone
25	chr4:16168200-16198000	Weak transcription	A549	lung
26	chr4:16168400-16180600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:16168400-16194600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:16168400-16197800	Weak transcription	NHLF	lung
29	chr4:16168400-16198000	Weak transcription	NH-A	brain
30	chr4:16168600-16191000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:16168600-16198000	Weak transcription	NHEK	skin
32	chr4:16170400-16191400	Weak transcription	Colonic Mucosa	Colon
33	chr4:16170600-16191000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:16170800-16180600	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:16171400-16182600	Strong transcription	Adipose Nuclei	Adipose
37	chr4:16171400-16182600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:16171600-16191000	Weak transcription	Esophagus	oesophagus
40	chr4:16171600-16191600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:16171600-16194400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:16171600-16198000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:16172000-16187200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:16172000-16191000	Weak transcription	Pancreas	Pancrea
45	chr4:16172000-16191000	Weak transcription	Small Intestine	intestine
46	chr4:16172000-16191000	Weak transcription	Spleen	Spleen
47	chr4:16172000-16198000	Weak transcription	HSMMtube	muscle
48	chr4:16172200-16190800	Weak transcription	Right Ventricle	heart
49	chr4:16172400-16180600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:16172400-16187400	Weak transcription	Fetal Kidney	kidney

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