Variant report

Variant	rs61573899
Chromosome Location	chr1:185203840-185203841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10218494	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10489582	1.00[EUR][1000 genomes]
rs10494582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798007	0.82[ASN][1000 genomes]
rs11804954	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12026308	1.00[EUR][1000 genomes]
rs12038977	1.00[EUR][1000 genomes]
rs12041641	1.00[EUR][1000 genomes]
rs12045533	1.00[EUR][1000 genomes]
rs12240005	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12240119	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16823734	1.00[EUR][1000 genomes]
rs16823739	1.00[EUR][1000 genomes]
rs16823862	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823869	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823875	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823884	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823891	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2025228	1.00[EUR][1000 genomes]
rs2144664	1.00[EUR][1000 genomes]
rs3766713	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3766716	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3895195	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41377350	1.00[EUR][1000 genomes]
rs57266144	1.00[EUR][1000 genomes]
rs57927210	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57960155	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58031282	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58292874	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58685423	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59035619	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59227355	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59611551	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59818790	1.00[EUR][1000 genomes]
rs60064915	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs6672580	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679946	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6687946	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6698620	1.00[EUR][1000 genomes]
rs7515757	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7516303	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540216	1.00[EUR][1000 genomes]
rs7555243	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs953701	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs953702	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
2	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
4	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
5	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
6	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
7	chr1:185190200-185204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:185192400-185206200	Weak transcription	Brain Substantia Nigra	brain
9	chr1:185192400-185208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:185192400-185209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:185192600-185204800	Weak transcription	Fetal Brain Female	brain
12	chr1:185192600-185205800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:185192600-185207400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:185192600-185218600	Weak transcription	Aorta	Aorta
15	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:185193400-185208000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:185193600-185204000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:185193600-185208000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:185193600-185213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:185193600-185213400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:185193600-185214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:185193600-185219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:185193600-185219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:185193800-185205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:185193800-185206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:185193800-185206400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:185194000-185218600	Weak transcription	Lung	lung
30	chr1:185194200-185213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:185196600-185209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:185197200-185218200	Weak transcription	Left Ventricle	heart
33	chr1:185197600-185220400	Weak transcription	Ovary	ovary
34	chr1:185198800-185210400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:185199800-185213200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:185201000-185204000	Weak transcription	Adipose Nuclei	Adipose
37	chr1:185202000-185204200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:185202000-185205200	Weak transcription	Brain Germinal Matrix	brain
39	chr1:185202400-185204000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:185202400-185206000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:185202400-185218800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:185203000-185204000	Strong transcription	Primary T cells from cord blood	blood
43	chr1:185203400-185204000	Enhancers	HepG2	liver

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