Variant report

Variant	rs279676
Chromosome Location	chr7:121757026-121757027
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	chr7:121755276..121758622-chr7:121759872..121762000,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1206361	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1206362	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206371	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1206372	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1206375	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1206378	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12706384	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs13223149	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13225749	0.81[GIH][hapmap]
rs13232539	0.98[EUR][1000 genomes]
rs1405236	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1405237	0.82[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1725067	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2215358	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs279665	0.82[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279670	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279673	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279679	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs279680	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279689	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs279700	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs279701	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs279707	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv608335	chr7:121749963-121779485	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs279676	GNG11	trans	lymphoblastoid	seeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121716000-121772000	Weak transcription	Osteobl	bone
3	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:121725800-121758400	Weak transcription	HSMMtube	muscle
6	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
8	chr7:121731800-121770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr7:121739800-121760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:121743000-121770200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:121744600-121783200	Weak transcription	Lung	lung
14	chr7:121744800-121760400	Strong transcription	Liver	Liver
15	chr7:121744800-121775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:121744800-121776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:121745600-121774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:121747200-121762400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:121747800-121760000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:121747800-121760000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:121747800-121775800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:121747800-121776200	Weak transcription	Fetal Brain Male	brain
23	chr7:121748200-121763600	Weak transcription	HMEC	breast
24	chr7:121750000-121776600	Weak transcription	Psoas Muscle	Psoas
25	chr7:121750200-121773600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:121750200-121775400	Weak transcription	Gastric	stomach
27	chr7:121750400-121775800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:121750800-121769000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:121750800-121775400	Weak transcription	Small Intestine	intestine
30	chr7:121751000-121757400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:121751000-121758800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:121751000-121759000	Strong transcription	Adipose Nuclei	Adipose
33	chr7:121751400-121758800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:121751400-121759200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:121751400-121760200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:121751400-121761400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:121752000-121757200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:121752000-121757200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr7:121752000-121757400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:121752000-121758400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:121752000-121759400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:121752000-121760400	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr7:121752200-121757400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:121752400-121757400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:121752600-121758400	Weak transcription	Esophagus	oesophagus
46	chr7:121753000-121757800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr7:121753600-121757400	Weak transcription	NHLF	lung
48	chr7:121753600-121760200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:121753800-121768000	Weak transcription	HSMM	muscle
50	chr7:121753800-121776200	Weak transcription	NH-A	brain

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