Variant report

Variant	rs279699
Chromosome Location	chr7:121770470-121770471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121768771..121771920-chr7:121774258..121777646,3	K562	blood:
2	chr7:121766737..121769191-chr7:121770279..121772578,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1147487	0.84[GIH][hapmap]
rs1147492	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1147493	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1147494	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1147502	0.86[ASW][hapmap]
rs1147504	0.86[ASW][hapmap]
rs11767822	0.84[ASW][hapmap]
rs1206351	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206352	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206353	0.86[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206354	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206356	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206357	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1206358	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206359	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206360	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206363	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1206364	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206365	0.83[CHB][hapmap]
rs1206367	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206368	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206369	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206373	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206374	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206376	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1206379	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206380	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206381	0.84[GIH][hapmap]
rs1206382	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1206507	0.84[ASW][hapmap];0.83[LWK][hapmap]
rs1206516	0.84[ASW][hapmap];0.83[LWK][hapmap]
rs1206517	0.84[ASW][hapmap];0.83[LWK][hapmap]
rs12217	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1725066	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860507	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533862	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279663	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279664	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279666	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279667	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279668	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279669	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279671	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs279674	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs279675	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs279677	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs279681	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs279698	0.81[TSI][hapmap]
rs279704	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs279706	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758692	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs969549	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 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	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
6	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:121744600-121783200	Weak transcription	Lung	lung
9	chr7:121744800-121775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:121744800-121776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:121745600-121774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:121747800-121775800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:121747800-121776200	Weak transcription	Fetal Brain Male	brain
14	chr7:121750000-121776600	Weak transcription	Psoas Muscle	Psoas
15	chr7:121750200-121773600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:121750200-121775400	Weak transcription	Gastric	stomach
17	chr7:121750400-121775800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:121750800-121775400	Weak transcription	Small Intestine	intestine
19	chr7:121753800-121776200	Weak transcription	NH-A	brain
20	chr7:121755200-121772000	Weak transcription	NHEK	skin
21	chr7:121755200-121776200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:121755200-121776800	Weak transcription	Aorta	Aorta
23	chr7:121756400-121772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:121756600-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:121756600-121776600	Weak transcription	Brain Angular Gyrus	brain
26	chr7:121756600-121783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:121756600-121783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:121756800-121775400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:121756800-121776200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:121756800-121776200	Weak transcription	HUVEC	blood vessel
31	chr7:121756800-121776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:121756800-121776800	Weak transcription	Brain Substantia Nigra	brain
33	chr7:121756800-121776800	Weak transcription	Right Ventricle	heart
34	chr7:121756800-121783000	Weak transcription	Fetal Intestine Large	intestine
35	chr7:121757000-121771800	Weak transcription	NHDF-Ad	bronchial
36	chr7:121757200-121773600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:121757200-121776000	Weak transcription	Brain Germinal Matrix	brain
38	chr7:121757200-121776000	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:121757200-121776200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:121757200-121776400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:121757200-121776800	Weak transcription	Pancreas	Pancrea
42	chr7:121757800-121776200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:121758400-121771800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:121758400-121776200	Weak transcription	Fetal Kidney	kidney
45	chr7:121758800-121772200	Weak transcription	Fetal Heart	heart
46	chr7:121758800-121776200	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:121758800-121776200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:121759200-121775600	Weak transcription	Brain Anterior Caudate	brain
49	chr7:121759600-121775600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:121760200-121772600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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