Variant report

Variant	rs13085453
Chromosome Location	chr3:98591218-98591219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs56996908	1.00[AMR][1000 genomes]
rs57492353	1.00[AMR][1000 genomes]
rs57581846	1.00[AMR][1000 genomes]
rs58345395	1.00[AMR][1000 genomes]
rs58880987	1.00[AMR][1000 genomes]
rs58977425	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58988785	1.00[AMR][1000 genomes]
rs59256676	1.00[AMR][1000 genomes]
rs59462320	1.00[AMR][1000 genomes]
rs59480491	1.00[AMR][1000 genomes]
rs59581962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59726038	1.00[AMR][1000 genomes]
rs60266120	1.00[AMR][1000 genomes]
rs60389001	1.00[AMR][1000 genomes]
rs60488063	1.00[AMR][1000 genomes]
rs60718786	1.00[AMR][1000 genomes]
rs61133181	1.00[AMR][1000 genomes]
rs61172524	1.00[AMR][1000 genomes]
rs61517408	1.00[AMR][1000 genomes]
rs72923005	1.00[AMR][1000 genomes]
rs72923016	1.00[AMR][1000 genomes]
rs72923020	1.00[AMR][1000 genomes]
rs72923040	1.00[AMR][1000 genomes]
rs72923043	1.00[AMR][1000 genomes]
rs72923045	1.00[AMR][1000 genomes]
rs72923046	1.00[AMR][1000 genomes]
rs72923053	1.00[AMR][1000 genomes]
rs72923071	1.00[AMR][1000 genomes]
rs72925007	1.00[AMR][1000 genomes]
rs72925011	1.00[AMR][1000 genomes]
rs72925074	1.00[AMR][1000 genomes]
rs72925099	1.00[AMR][1000 genomes]
rs72926923	1.00[AMR][1000 genomes]
rs72926985	1.00[AMR][1000 genomes]
rs72934627	1.00[AMR][1000 genomes]
rs72934633	1.00[AMR][1000 genomes]
rs72934639	1.00[AMR][1000 genomes]
rs72934644	1.00[AMR][1000 genomes]
rs72934650	1.00[AMR][1000 genomes]
rs72934662	1.00[AMR][1000 genomes]
rs72934664	1.00[AMR][1000 genomes]
rs72934665	1.00[AMR][1000 genomes]
rs72934681	1.00[AMR][1000 genomes]
rs72934683	1.00[AMR][1000 genomes]
rs72934691	1.00[AMR][1000 genomes]
rs72936622	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936667	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936668	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936670	0.91[AFR][1000 genomes]
rs72938535	0.81[AFR][1000 genomes]
rs72938539	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938557	0.81[AFR][1000 genomes]
rs72938573	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938584	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938585	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940515	1.00[AMR][1000 genomes]
rs72940521	1.00[AMR][1000 genomes]
rs72940528	1.00[AMR][1000 genomes]
rs72940538	1.00[AMR][1000 genomes]
rs72940543	1.00[AMR][1000 genomes]
rs72940552	1.00[AMR][1000 genomes]
rs72940570	1.00[AMR][1000 genomes]
rs72940573	1.00[AMR][1000 genomes]
rs72940576	1.00[AMR][1000 genomes]
rs72940577	1.00[AMR][1000 genomes]
rs72940581	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1009032	chr3:98514221-98607721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv3441569	chr3:98585311-98607020	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3394363	chr3:98590662-98593860	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3394331	chr3:98591112-98593710	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98536200-98594200	Weak transcription	HepG2	liver
2	chr3:98537000-98592800	Weak transcription	K562	blood
3	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:98575400-98603800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:98575800-98593200	Weak transcription	HUVEC	blood vessel
6	chr3:98575800-98603200	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:98575800-98603800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:98576000-98598600	Weak transcription	Fetal Kidney	kidney
9	chr3:98577200-98598800	Weak transcription	Left Ventricle	heart
10	chr3:98578000-98601000	Weak transcription	Lung	lung
11	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:98584400-98593400	Weak transcription	Fetal Heart	heart
13	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:98584600-98604200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:98586200-98591400	Strong transcription	NH-A	brain
16	chr3:98586200-98594000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:98586200-98595800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:98586400-98594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:98586600-98594200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:98586600-98598600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:98587200-98596200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:98587200-98604600	Weak transcription	Ovary	ovary
23	chr3:98587400-98594200	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr3:98587400-98595600	Strong transcription	NHEK	skin
25	chr3:98587800-98601800	Strong transcription	HSMM	muscle
26	chr3:98588800-98592400	ZNF genes & repeats	A549	lung
27	chr3:98589000-98592800	Strong transcription	Osteobl	bone
28	chr3:98589000-98594200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:98589000-98598600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:98589200-98602200	Weak transcription	NHLF	lung
31	chr3:98589400-98598800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:98589400-98609200	Weak transcription	Fetal Intestine Large	intestine
33	chr3:98589600-98597000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:98589600-98599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:98589800-98593200	Strong transcription	HMEC	breast
36	chr3:98589800-98604000	Weak transcription	Fetal Stomach	stomach
37	chr3:98590000-98591400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:98590000-98592200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:98590000-98609600	Weak transcription	Brain Anterior Caudate	brain
40	chr3:98590200-98592000	Genic enhancers	NHDF-Ad	bronchial
41	chr3:98590400-98591400	Strong transcription	Adipose Nuclei	Adipose
42	chr3:98590400-98591400	ZNF genes & repeats	Fetal Brain Female	brain
43	chr3:98590400-98591600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:98590400-98592200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:98590400-98592600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:98590400-98594000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:98590600-98591400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:98590600-98591400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:98590800-98591400	Strong transcription	Liver	Liver
50	chr3:98590800-98591600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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