Variant report

Variant	rs58268778
Chromosome Location	chr2:233726590-233726591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
2	chr2:233723605..233727098-chr2:233736700..233739372,3	MCF-7	breast:
3	chr2:233725993..233729161-chr2:233734807..233736601,3	K562	blood:

Variant related genes	Relation type
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11883745	0.83[EUR][1000 genomes]
rs11883794	0.85[EUR][1000 genomes]
rs11884898	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11885029	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11885497	0.81[EUR][1000 genomes]
rs11885646	0.83[EUR][1000 genomes]
rs11890879	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11892639	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11894688	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11897789	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11900295	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11900327	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11901015	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11904714	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2271702	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289913	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2293781	0.83[EUR][1000 genomes]
rs2305138	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2344614	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2880899	0.83[EUR][1000 genomes]
rs34487721	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3738904	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816336	0.83[EUR][1000 genomes]
rs3817310	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4144794	0.85[EUR][1000 genomes]
rs55686138	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55913849	0.81[EUR][1000 genomes]
rs56140815	0.83[EUR][1000 genomes]
rs56344253	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56357073	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56953250	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57092158	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57211905	0.83[EUR][1000 genomes]
rs57513852	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57657135	0.83[EUR][1000 genomes]
rs57667610	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57986228	0.83[EUR][1000 genomes]
rs58466616	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58520085	0.85[EUR][1000 genomes]
rs58835825	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59488869	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59502980	0.83[EUR][1000 genomes]
rs59514271	0.83[EUR][1000 genomes]
rs59667905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60103392	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60532570	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61518838	0.83[EUR][1000 genomes]
rs6719766	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73092767	0.83[EUR][1000 genomes]
rs73092790	0.83[EUR][1000 genomes]
rs73102244	0.83[EUR][1000 genomes]
rs73102257	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73102286	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73106355	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73106363	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73107693	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73108328	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73108346	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73995715	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73999704	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73999707	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7560000	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7564410	0.85[EUR][1000 genomes]
rs7578385	0.83[EUR][1000 genomes]
rs7598518	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7601559	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:233703400-233726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:233704400-233726600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:233704600-233728000	Strong transcription	Primary T cells from cord blood	blood
6	chr2:233704800-233726600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:233705000-233726600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:233705600-233726600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:233705600-233727800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:233712000-233728200	Strong transcription	Fetal Stomach	stomach
11	chr2:233718000-233726600	Strong transcription	Adipose Nuclei	Adipose
12	chr2:233718200-233726600	Strong transcription	Brain Germinal Matrix	brain
13	chr2:233718600-233727800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:233718600-233727800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:233718800-233726800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:233718800-233727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:233719200-233726600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:233719800-233726600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:233719800-233726600	Strong transcription	Placenta	Placenta
20	chr2:233719800-233726600	Strong transcription	Lung	lung
21	chr2:233719800-233726800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr2:233720000-233726600	Strong transcription	Rectal Smooth Muscle	rectum
23	chr2:233720000-233727000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:233720800-233726600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:233720800-233727800	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:233721200-233726600	Strong transcription	Left Ventricle	heart
27	chr2:233721200-233727800	Strong transcription	Brain Anterior Caudate	brain
28	chr2:233721400-233726600	Strong transcription	Brain Cingulate Gyrus	brain
29	chr2:233721400-233726600	Strong transcription	Fetal Lung	lung
30	chr2:233721400-233727800	Genic enhancers	Fetal Intestine Small	intestine
31	chr2:233722200-233726600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:233722400-233726600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:233722400-233727400	Weak transcription	Fetal Heart	heart
34	chr2:233722400-233728200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:233722400-233728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach
37	chr2:233723000-233733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:233723200-233728600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:233723200-233733200	Weak transcription	Small Intestine	intestine
41	chr2:233723200-233736600	Weak transcription	Colonic Mucosa	Colon
42	chr2:233723200-233738600	Weak transcription	K562	blood
43	chr2:233723600-233728000	Weak transcription	NH-A	brain
44	chr2:233723600-233728400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:233723600-233729800	Weak transcription	HUVEC	blood vessel
46	chr2:233723600-233734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:233723600-233735200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:233723600-233736400	Weak transcription	Right Ventricle	heart
49	chr2:233723600-233736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:233724000-233726800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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