Variant report

Variant	rs34592687
Chromosome Location	chr4:16208541-16208542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:16208524-16208844	NB4	blood:	n/a	chr4:16208675-16208685
2	MYC	chr4:16208537-16208764	NB4	blood:	n/a	chr4:16208675-16208685

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:16208002..16209532-chr4:16222968..16225755,2	MCF-7	breast:
2	chr4:16207822..16210788-chr4:16227616..16230389,3	MCF-7	breast:
3	chr4:16207543..16210716-chr4:16226514..16229225,4	K562	blood:
4	chr4:16205687..16210095-chr4:16211514..16215415,4	K562	blood:
5	chr4:16207884..16210057-chr4:16223808..16226102,2	K562	blood:
6	chr4:16206563..16211517-chr4:16224602..16229225,6	K562	blood:
7	chr4:16204628..16208605-chr4:16216498..16220405,4	K562	blood:

No data

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000263327	Chromatin interaction
ENSG00000169762	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10017532	0.80[ASN][1000 genomes]
rs10516297	0.90[ASN][1000 genomes]
rs11730922	0.92[ASN][1000 genomes]
rs13110290	0.82[ASN][1000 genomes]
rs13120908	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13132678	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13136055	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13136172	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2028631	0.82[ASN][1000 genomes]
rs28654954	0.80[ASN][1000 genomes]
rs2872216	0.92[ASN][1000 genomes]
rs33980476	0.85[ASN][1000 genomes]
rs34129131	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34496855	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34663238	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34837883	0.92[EUR][1000 genomes]
rs35475888	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35517826	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35804424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35806798	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35899968	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35931597	0.83[ASN][1000 genomes]
rs3749544	0.94[ASN][1000 genomes]
rs4235382	0.83[ASN][1000 genomes]
rs4481232	0.86[ASN][1000 genomes]
rs4571326	0.86[ASN][1000 genomes]
rs4698457	0.84[ASN][1000 genomes]
rs56353092	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6810390	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6823229	0.92[ASN][1000 genomes]
rs6823230	0.92[ASN][1000 genomes]
rs6852432	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9995025	0.81[ASN][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
3	chr4:16193000-16216000	Weak transcription	Spleen	Spleen
4	chr4:16193000-16225800	Weak transcription	Colonic Mucosa	Colon
5	chr4:16193200-16225800	Weak transcription	Fetal Brain Female	brain
6	chr4:16193400-16211200	Weak transcription	Placenta	Placenta
7	chr4:16193600-16208600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:16198600-16211200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:16198600-16216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:16198600-16221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:16198600-16222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:16198800-16211400	Weak transcription	Aorta	Aorta
13	chr4:16198800-16218800	Weak transcription	HSMM	muscle
14	chr4:16198800-16225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:16198800-16226000	Weak transcription	NHEK	skin
16	chr4:16198800-16226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:16199800-16209800	Weak transcription	NHLF	lung
18	chr4:16199800-16215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:16200000-16208600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:16200000-16214200	Weak transcription	Fetal Heart	heart
21	chr4:16200200-16209000	Weak transcription	NHDF-Ad	bronchial
22	chr4:16200800-16213600	Weak transcription	HUVEC	blood vessel
23	chr4:16200800-16214800	Weak transcription	Stomach Mucosa	stomach
24	chr4:16200800-16218000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:16202800-16220800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:16203600-16209600	Enhancers	Brain Anterior Caudate	brain
27	chr4:16203800-16211200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:16204200-16213800	Weak transcription	Ovary	ovary
29	chr4:16204400-16209800	Enhancers	Brain Substantia Nigra	brain
30	chr4:16204600-16209600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:16204600-16210400	Enhancers	Brain Angular Gyrus	brain
32	chr4:16204800-16210800	Enhancers	Brain Hippocampus Middle	brain
33	chr4:16204800-16226600	Weak transcription	NH-A	brain
34	chr4:16205000-16209400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:16205200-16225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:16205800-16211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:16206000-16208600	Strong transcription	Fetal Intestine Small	intestine
38	chr4:16206000-16211200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:16206000-16211600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:16206200-16208800	Enhancers	Right Atrium	heart
41	chr4:16206200-16208800	Enhancers	Right Ventricle	heart
42	chr4:16206200-16208800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:16206200-16209000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr4:16206400-16210000	Weak transcription	Fetal Intestine Large	intestine
45	chr4:16206400-16216000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:16206400-16218400	Weak transcription	Fetal Lung	lung
47	chr4:16206600-16218400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:16206800-16208800	Enhancers	Left Ventricle	heart
49	chr4:16206800-16208800	Enhancers	Psoas Muscle	Psoas
50	chr4:16206800-16209200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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