Variant report

Variant	rs58515193
Chromosome Location	chr2:183846379-183846380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183838297..183842260-chr2:183845536..183849861,4	K562	blood:
2	chr2:183845824..183847389-chr2:183850200..183853171,2	K562	blood:
3	chr2:183837480..183840062-chr2:183843767..183847602,3	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11885629	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885833	1.00[EUR][1000 genomes]
rs11888086	1.00[EUR][1000 genomes]
rs11892717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896088	1.00[EUR][1000 genomes]
rs16823829	1.00[EUR][1000 genomes]
rs16823945	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823949	1.00[EUR][1000 genomes]
rs16823966	1.00[EUR][1000 genomes]
rs16823968	0.93[AFR][1000 genomes]
rs2102770	0.93[AFR][1000 genomes]
rs4358084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55803212	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886059	1.00[EUR][1000 genomes]
rs56179717	1.00[EUR][1000 genomes]
rs56219690	0.86[AFR][1000 genomes]
rs56344408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362542	1.00[EUR][1000 genomes]
rs57047150	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59253255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59308931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60558126	1.00[EUR][1000 genomes]
rs60602756	1.00[EUR][1000 genomes]
rs60705462	0.89[AFR][1000 genomes]
rs6733333	1.00[EUR][1000 genomes]
rs6736252	1.00[EUR][1000 genomes]
rs6757286	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73035662	0.89[AFR][1000 genomes]
rs73037284	1.00[EUR][1000 genomes]
rs73040079	1.00[EUR][1000 genomes]
rs73040083	1.00[EUR][1000 genomes]
rs73040085	1.00[EUR][1000 genomes]
rs73040088	1.00[EUR][1000 genomes]
rs73042107	1.00[EUR][1000 genomes]
rs73042129	1.00[EUR][1000 genomes]
rs73042136	1.00[EUR][1000 genomes]
rs73042149	1.00[EUR][1000 genomes]
rs73042166	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046217	1.00[EUR][1000 genomes]
rs73046218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046226	1.00[EUR][1000 genomes]
rs73046232	1.00[EUR][1000 genomes]
rs73046235	1.00[EUR][1000 genomes]
rs73046257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046260	1.00[EUR][1000 genomes]
rs73048203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980523	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7558834	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561870	1.00[EUR][1000 genomes]
rs7584932	1.00[EUR][1000 genomes]
rs7601416	1.00[EUR][1000 genomes]
rs7602182	1.00[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
4	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:183798600-183847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:183804800-183859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:183812000-183857800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:183812200-183874800	Weak transcription	Gastric	stomach
10	chr2:183812400-183856800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
12	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:183818600-183860400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:183820000-183850800	Weak transcription	Brain Angular Gyrus	brain
15	chr2:183827000-183859000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:183827200-183849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:183827200-183874400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:183831400-183856000	Weak transcription	Fetal Stomach	stomach
19	chr2:183832000-183860000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:183833600-183847000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:183833600-183864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:183833600-183874800	Weak transcription	Brain Substantia Nigra	brain
23	chr2:183833600-183874800	Weak transcription	Pancreas	Pancrea
24	chr2:183833600-183878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:183833600-183879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:183833800-183847200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:183836200-183851400	Strong transcription	HMEC	breast
28	chr2:183836200-183854000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:183836200-183854200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:183836200-183855200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:183836400-183854000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:183836400-183863400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:183836600-183851400	Strong transcription	NH-A	brain
34	chr2:183836600-183867800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:183836800-183851200	Strong transcription	Osteobl	bone
36	chr2:183836800-183858000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:183837000-183847600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:183837000-183863400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:183837000-183866600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:183837200-183860800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:183837800-183851200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:183837800-183866400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:183838000-183854200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:183838400-183867000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:183838600-183865600	Weak transcription	Small Intestine	intestine
46	chr2:183839000-183851400	Strong transcription	HUVEC	blood vessel
47	chr2:183839000-183852600	Weak transcription	Brain Germinal Matrix	brain
48	chr2:183839400-183855200	Strong transcription	Fetal Intestine Large	intestine
49	chr2:183839400-183858000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:183839600-183847000	Weak transcription	Brain Hippocampus Middle	brain

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