Variant report

Variant	rs4728165
Chromosome Location	chr7:129089445-129089446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129088957..129092842-chr7:129097712..129099718,4	K562	blood:

Variant related genes	Relation type
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10500117	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10954233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10954234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155142	0.87[EUR][1000 genomes]
rs12667232	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12671604	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2305326	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34000750	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34794308	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34916100	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35131522	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35277123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35544616	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731578	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731579	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731580	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4731581	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4731582	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4731583	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62489110	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6943021	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs753336	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs966481	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129096000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:129075200-129100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129075200-129108400	Weak transcription	Gastric	stomach
4	chr7:129075400-129093200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:129075400-129105800	Weak transcription	Ovary	ovary
7	chr7:129075800-129091800	Weak transcription	HepG2	liver
8	chr7:129076000-129095000	Weak transcription	Dnd41	blood
9	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:129079200-129090200	Weak transcription	HSMM	muscle
12	chr7:129079200-129095200	Weak transcription	NHLF	lung
13	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
15	chr7:129080000-129091800	Weak transcription	Osteobl	bone
16	chr7:129080000-129094600	Weak transcription	Hela-S3	cervix
17	chr7:129080000-129104800	Weak transcription	A549	lung
18	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
19	chr7:129080400-129094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:129080600-129101800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:129082000-129091400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
23	chr7:129083400-129092400	Weak transcription	HMEC	breast
24	chr7:129083800-129091400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:129083800-129112800	Strong transcription	K562	blood
26	chr7:129084400-129092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:129084400-129092200	Weak transcription	Left Ventricle	heart
28	chr7:129084400-129093000	Weak transcription	Right Ventricle	heart
29	chr7:129085800-129103600	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:129086400-129091600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:129086400-129094800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:129087000-129090400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:129087200-129090600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:129087600-129090600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:129087600-129093800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:129087600-129103600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:129088000-129096200	Weak transcription	Psoas Muscle	Psoas
38	chr7:129088400-129089600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:129088400-129093400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:129088400-129098000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:129088800-129090200	Weak transcription	Fetal Heart	heart
42	chr7:129088800-129091800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:129088800-129099800	Weak transcription	HSMMtube	muscle
44	chr7:129089000-129091400	Weak transcription	Brain Anterior Caudate	brain
45	chr7:129089000-129092000	Weak transcription	NHEK	skin
46	chr7:129089200-129091200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:129089200-129093200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:129089200-129106600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:129089400-129091400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:129089400-129091400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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