Variant report

Variant	rs6999024
Chromosome Location	chr8:121585846-121585847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10089944	0.84[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10099784	0.91[CHB][hapmap]
rs10102980	0.87[CHB][hapmap]
rs10103010	0.88[CHB][hapmap]
rs10104248	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10104255	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10108821	0.86[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10109195	0.88[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10113166	0.87[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28415690	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28561998	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28716772	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4329308	0.88[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4338145	0.92[CHB][hapmap];0.83[EUR][1000 genomes]
rs4409430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4448320	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4514023	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4514024	0.87[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4515596	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4521809	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4556123	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55646138	0.82[EUR][1000 genomes]
rs55704534	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57500848	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57589495	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57622256	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57854118	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57931690	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58181006	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58342310	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929354	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59896584	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60307797	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61312574	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469936	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6981454	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017132	0.85[CEU][hapmap]
rs7017780	0.87[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680550	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680551	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680552	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680553	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680554	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680556	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680558	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680559	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680560	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680561	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680564	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680565	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73705090	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73707305	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812594	0.87[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7814782	0.87[CHB][hapmap]
rs7824846	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826902	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827232	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7827807	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7828280	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7835353	0.87[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7845125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7845469	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr8:121556200-121586400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121557800-121597400	Weak transcription	Osteobl	bone
3	chr8:121560400-121586800	Weak transcription	Fetal Stomach	stomach
4	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:121561200-121586000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:121561200-121586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:121561200-121586800	Weak transcription	Gastric	stomach
9	chr8:121561200-121586800	Weak transcription	Lung	lung
10	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
11	chr8:121561400-121586000	Weak transcription	NHLF	lung
12	chr8:121561400-121586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:121568400-121586400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:121568600-121586200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:121568600-121586800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:121569800-121586200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:121572400-121592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:121575200-121592800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:121575600-121597000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:121575800-121587400	Weak transcription	NHDF-Ad	bronchial
21	chr8:121577600-121589000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:121578800-121586200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:121579600-121587400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:121580400-121587800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:121580400-121593000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:121581000-121592400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:121581000-121592400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:121581200-121586400	Weak transcription	Aorta	Aorta
29	chr8:121581400-121593600	Strong transcription	HepG2	liver
30	chr8:121581600-121589200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:121582400-121588400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:121582600-121586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:121582600-121589600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:121582800-121586400	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:121582800-121586400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:121582800-121587400	Strong transcription	HSMMtube	muscle
37	chr8:121582800-121587800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:121582800-121589400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr8:121582800-121593200	Strong transcription	Liver	Liver
40	chr8:121583200-121586000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:121583200-121590600	Weak transcription	Psoas Muscle	Psoas
42	chr8:121583200-121597400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:121583200-121598200	Weak transcription	Spleen	Spleen
44	chr8:121583400-121586800	Weak transcription	Fetal Intestine Large	intestine
45	chr8:121583600-121586200	Weak transcription	HSMM	muscle
46	chr8:121583600-121586400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:121584200-121586000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:121584200-121586400	Weak transcription	Adipose Nuclei	Adipose
49	chr8:121584200-121588200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr8:121584400-121587200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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