Variant report

Variant	rs379347
Chromosome Location	chr7:101714040-101714041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10268506	1.00[CHB][hapmap]
rs365397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366345	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367773	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375417	0.88[CEU][hapmap]
rs376183	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs377587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380934	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393074	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406012	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs409420	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs411844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412332	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412524	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413348	1.00[ASN][1000 genomes]
rs420709	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs421154	1.00[ASN][1000 genomes]
rs421430	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425577	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294126	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430154	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432002	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432600	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438908	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441160	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443159	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443293	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729771	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185898	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv607985	chr7:101683563-101718950	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101689400-101714600	Weak transcription	HSMMtube	muscle
2	chr7:101689800-101714800	Weak transcription	NHLF	lung
3	chr7:101705600-101714800	Weak transcription	Fetal Kidney	kidney
4	chr7:101705600-101717400	Weak transcription	Pancreas	Pancrea
5	chr7:101707200-101738000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:101707400-101714400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:101707400-101715800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:101707600-101714600	Weak transcription	Osteobl	bone
9	chr7:101707600-101716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:101708000-101714800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:101708000-101715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:101708000-101722800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:101708200-101714400	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:101708200-101714600	Weak transcription	Colonic Mucosa	Colon
15	chr7:101708200-101714600	Weak transcription	Esophagus	oesophagus
16	chr7:101708200-101722000	Weak transcription	NH-A	brain
17	chr7:101708200-101723000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:101708200-101765000	Weak transcription	Small Intestine	intestine
19	chr7:101708400-101714600	Weak transcription	Fetal Brain Female	brain
20	chr7:101708400-101720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:101708400-101720400	Weak transcription	HMEC	breast
22	chr7:101708400-101722800	Weak transcription	Brain Substantia Nigra	brain
23	chr7:101708400-101722800	Weak transcription	Right Atrium	heart
24	chr7:101708400-101726000	Weak transcription	NHEK	skin
25	chr7:101708600-101714600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:101708600-101714600	Weak transcription	A549	lung
27	chr7:101708800-101714600	Weak transcription	Brain Germinal Matrix	brain
28	chr7:101709400-101720000	Strong transcription	Fetal Stomach	stomach
29	chr7:101709600-101715200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:101710400-101714400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:101710400-101715200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:101711000-101723200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:101711600-101714400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:101711600-101714800	Strong transcription	Spleen	Spleen
35	chr7:101711800-101714400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:101711800-101714400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:101711800-101714800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr7:101711800-101714800	Strong transcription	Dnd41	blood
39	chr7:101711800-101715800	Strong transcription	Liver	Liver
40	chr7:101711800-101717000	Strong transcription	HepG2	liver
41	chr7:101712000-101714400	Strong transcription	Fetal Thymus	thymus
42	chr7:101712000-101714400	Strong transcription	Thymus	Thymus
43	chr7:101712000-101714600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:101712000-101714600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:101712000-101714800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:101712000-101714800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:101712000-101715200	Strong transcription	Primary T cells from cord blood	blood
48	chr7:101712000-101715800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:101712000-101716000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:101712000-101716000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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