Variant report

Variant	rs17479949
Chromosome Location	chr4:16189279-16189280
allele	C/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	FOS	chr4:16189137-16189363	MCF10A-Er-Src	breast:	n/a	chr4:16189237-16189247 chr4:16189236-16189247 chr4:16189237-16189247 chr4:16189237-16189247 chr4:16189237-16189246 chr4:16189239-16189250 chr4:16189237-16189247
2	FOS	chr4:16189100-16189298	MCF10A-Er-Src	breast:	n/a	chr4:16189237-16189247 chr4:16189236-16189247 chr4:16189237-16189247 chr4:16189237-16189247 chr4:16189237-16189246 chr4:16189239-16189250 chr4:16189237-16189247
3	FOS	chr4:16189098-16189291	MCF10A-Er-Src	breast:	n/a	chr4:16189237-16189247 chr4:16189236-16189247 chr4:16189237-16189247 chr4:16189237-16189247 chr4:16189237-16189246 chr4:16189239-16189250 chr4:16189237-16189247
4	FOS	chr4:16189119-16189372	MCF10A-Er-Src	breast:	n/a	chr4:16189237-16189247 chr4:16189236-16189247 chr4:16189237-16189247 chr4:16189237-16189247 chr4:16189237-16189246 chr4:16189239-16189250 chr4:16189237-16189247
5	FOS	chr4:16189046-16189356	HUVEC	blood vessel:	n/a	chr4:16189237-16189247 chr4:16189236-16189247 chr4:16189237-16189247 chr4:16189237-16189247 chr4:16189237-16189246 chr4:16189239-16189250 chr4:16189237-16189247

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16188719..16191085-chr4:16191836..16194328,3	K562	blood:
2	chr4:16181639..16184226-chr4:16188641..16191282,2	K562	blood:

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000169762	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1373109	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs1443368	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1443369	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1443370	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1712479	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17478607	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2011754	0.96[EUR][1000 genomes]
rs28377010	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28485928	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28496446	0.94[EUR][1000 genomes]
rs28726676	0.96[EUR][1000 genomes]
rs317858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs317859	1.00[ASN][1000 genomes]
rs317860	1.00[ASN][1000 genomes]
rs317863	1.00[ASN][1000 genomes]
rs317867	1.00[ASN][1000 genomes]
rs317868	1.00[ASN][1000 genomes]
rs35046072	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35367114	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73798874	0.94[EUR][1000 genomes]
rs73798875	0.94[EUR][1000 genomes]
rs73798883	0.90[EUR][1000 genomes]
rs7690701	0.94[EUR][1000 genomes]
rs961450	0.94[EUR][1000 genomes]
rs975229	0.82[ASW][hapmap];0.86[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16161800-16193200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr4:16163200-16195800	Weak transcription	HMEC	breast
3	chr4:16164400-16195000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:16165000-16190800	Weak transcription	HUVEC	blood vessel
5	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:16168200-16198000	Weak transcription	A549	lung
8	chr4:16168400-16194600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:16168400-16197800	Weak transcription	NHLF	lung
10	chr4:16168400-16198000	Weak transcription	NH-A	brain
11	chr4:16168600-16191000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:16168600-16198000	Weak transcription	NHEK	skin
13	chr4:16170400-16191400	Weak transcription	Colonic Mucosa	Colon
14	chr4:16170600-16191000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:16171600-16191000	Weak transcription	Esophagus	oesophagus
18	chr4:16171600-16191600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:16171600-16194400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:16171600-16198000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:16172000-16191000	Weak transcription	Pancreas	Pancrea
22	chr4:16172000-16191000	Weak transcription	Small Intestine	intestine
23	chr4:16172000-16191000	Weak transcription	Spleen	Spleen
24	chr4:16172000-16198000	Weak transcription	HSMMtube	muscle
25	chr4:16172200-16190800	Weak transcription	Right Ventricle	heart
26	chr4:16172600-16191000	Weak transcription	Fetal Brain Female	brain
27	chr4:16172800-16190800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:16174400-16196800	Weak transcription	Stomach Mucosa	stomach
29	chr4:16176000-16191200	Weak transcription	NHDF-Ad	bronchial
30	chr4:16176200-16198000	Weak transcription	HSMM	muscle
31	chr4:16177000-16194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:16178800-16191000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:16178800-16191400	Weak transcription	Gastric	stomach
34	chr4:16179200-16196000	Weak transcription	Fetal Heart	heart
35	chr4:16180800-16192600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:16181000-16190600	Weak transcription	K562	blood
37	chr4:16181000-16190800	Weak transcription	Psoas Muscle	Psoas
38	chr4:16181000-16191000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:16181000-16197800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:16181000-16197800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:16181200-16190800	Weak transcription	Brain Angular Gyrus	brain
42	chr4:16181200-16190800	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:16181200-16190800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
45	chr4:16181400-16190800	Weak transcription	Brain Substantia Nigra	brain
46	chr4:16181800-16191000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:16182400-16190400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:16182600-16190800	Weak transcription	Brain Anterior Caudate	brain
49	chr4:16182600-16191000	Weak transcription	Thymus	Thymus
50	chr4:16182600-16191200	Weak transcription	Colon Smooth Muscle	Colon

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