Variant report

Variant	rs692248
Chromosome Location	chr7:129087742-129087743
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129080681..129082360-chr7:129086305..129089273,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11768964	0.95[EUR][1000 genomes]
rs1272593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55832716	0.88[EUR][1000 genomes]
rs581829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613068	0.92[EUR][1000 genomes]
rs613169	0.92[EUR][1000 genomes]
rs632505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639605	0.93[EUR][1000 genomes]
rs655239	0.95[EUR][1000 genomes]
rs656981	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs666499	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs690872	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690903	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs692132	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs692507	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs692686	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712692	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712693	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779572	0.81[AFR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:129075200-129096000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:129075200-129100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129075200-129108400	Weak transcription	Gastric	stomach
5	chr7:129075400-129093200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:129075400-129105800	Weak transcription	Ovary	ovary
8	chr7:129075800-129091800	Weak transcription	HepG2	liver
9	chr7:129076000-129088800	Weak transcription	Fetal Lung	lung
10	chr7:129076000-129095000	Weak transcription	Dnd41	blood
11	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:129076400-129088000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:129078600-129087800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:129079200-129090200	Weak transcription	HSMM	muscle
16	chr7:129079200-129095200	Weak transcription	NHLF	lung
17	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
19	chr7:129080000-129091800	Weak transcription	Osteobl	bone
20	chr7:129080000-129094600	Weak transcription	Hela-S3	cervix
21	chr7:129080000-129104800	Weak transcription	A549	lung
22	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
23	chr7:129080400-129094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:129080600-129101800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:129082000-129091400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
27	chr7:129083400-129088400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:129083400-129092400	Weak transcription	HMEC	breast
29	chr7:129083800-129091400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:129083800-129112800	Strong transcription	K562	blood
31	chr7:129084200-129088000	Strong transcription	Brain Anterior Caudate	brain
32	chr7:129084400-129092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:129084400-129092200	Weak transcription	Left Ventricle	heart
34	chr7:129084400-129093000	Weak transcription	Right Ventricle	heart
35	chr7:129085400-129088600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:129085600-129088000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:129085800-129088000	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:129085800-129103600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:129086000-129088400	Weak transcription	Fetal Heart	heart
40	chr7:129086200-129087800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:129086200-129088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:129086400-129087800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:129086400-129091600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:129086400-129094800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:129086800-129088200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:129086800-129088400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr7:129087000-129088600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:129087000-129090400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:129087200-129088000	Strong transcription	Psoas Muscle	Psoas
50	chr7:129087200-129088400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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