Variant report

Variant	rs12134984
Chromosome Location	chr1:176129731-176129732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10494497	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12116561	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12119366	0.85[AMR][1000 genomes]
rs12121832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12124916	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12125192	0.85[AMR][1000 genomes]
rs12125328	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12127204	0.85[AMR][1000 genomes]
rs12127719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12128099	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12128327	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12129466	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12129873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12130538	0.85[AMR][1000 genomes]
rs12132072	0.92[AMR][1000 genomes]
rs12133268	0.85[AMR][1000 genomes]
rs12133310	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12133701	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12134392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135045	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12137136	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12139160	0.85[AMR][1000 genomes]
rs12140631	0.85[AMR][1000 genomes]
rs12141054	0.85[AMR][1000 genomes]
rs12142010	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12142461	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143425	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12144612	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12144692	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12144806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145452	0.85[AMR][1000 genomes]
rs12145703	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145778	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12146072	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1330863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16849475	0.85[AMR][1000 genomes]
rs4400573	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56230548	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7349083	0.85[AMR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176054400-176131600	Weak transcription	NH-A	brain
2	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
3	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
4	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
6	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
7	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:176085400-176142400	Weak transcription	Lung	lung
9	chr1:176095600-176130200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:176096000-176138800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
12	chr1:176102800-176130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:176102800-176130600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:176108600-176129800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:176110600-176164000	Weak transcription	NHLF	lung
16	chr1:176111800-176139400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:176116000-176146200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:176121200-176130800	Weak transcription	HepG2	liver
19	chr1:176122000-176130200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:176122000-176139800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:176123200-176130600	Weak transcription	Thymus	Thymus
22	chr1:176123800-176131200	Weak transcription	K562	blood
23	chr1:176123800-176139800	Weak transcription	Fetal Kidney	kidney
24	chr1:176123800-176144200	Weak transcription	Left Ventricle	heart
25	chr1:176123800-176150000	Weak transcription	Osteobl	bone
26	chr1:176125200-176131000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:176126000-176130400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:176126000-176132000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:176126400-176129800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:176126400-176130000	Weak transcription	Fetal Stomach	stomach
31	chr1:176126400-176130200	ZNF genes & repeats	GM12878-XiMat	blood
32	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
33	chr1:176126800-176139800	Weak transcription	HSMMtube	muscle
34	chr1:176127000-176130000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:176127000-176147000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:176127200-176130600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:176127200-176137800	Weak transcription	HSMM	muscle
39	chr1:176127200-176153400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:176127400-176139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:176127400-176139600	Weak transcription	Brain Anterior Caudate	brain
42	chr1:176127400-176140200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:176127400-176141200	Weak transcription	HMEC	breast
44	chr1:176127400-176143200	Weak transcription	Brain Substantia Nigra	brain
45	chr1:176127400-176144200	Weak transcription	A549	lung
46	chr1:176127400-176153400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:176127400-176155400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:176127600-176130000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:176127600-176130000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:176127600-176130400	Weak transcription	Liver	Liver

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