Variant report

Variant	rs6754901
Chromosome Location	chr2:183990776-183990777
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183775532..183777640-chr2:183990491..183993127,2	K562	blood:
2	chr2:183989189..183990903-chr2:184002119..184004777,2	MCF-7	breast:
3	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:
4	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
5	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
6	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
7	chr2:183990685..183993122-chr2:184003291..184005876,2	K562	blood:
8	chr2:183989265..183990800-chr2:184010673..184012208,2	MCF-7	breast:
9	chr2:183836718..183838459-chr2:183989290..183991920,2	K562	blood:
10	chr2:183954410..183956747-chr2:183990297..183991914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11894093	0.94[ASN][1000 genomes]
rs11904060	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12105081	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12989618	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12992879	0.92[ASN][1000 genomes]
rs12994342	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13008910	0.89[EUR][1000 genomes]
rs13023488	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13023969	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13024949	0.89[EUR][1000 genomes]
rs1829121	0.82[ASN][1000 genomes]
rs2254866	0.85[ASN][1000 genomes]
rs34100542	0.88[ASN][1000 genomes]
rs34424877	0.89[EUR][1000 genomes]
rs34591399	0.83[EUR][1000 genomes]
rs34743637	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34767214	0.95[ASN][1000 genomes]
rs34921390	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34967913	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35290003	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35479161	0.85[ASN][1000 genomes]
rs35661877	0.92[ASN][1000 genomes]
rs35672629	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35799804	0.92[ASN][1000 genomes]
rs35873918	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36021851	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36054361	0.92[ASN][1000 genomes]
rs36100240	0.89[EUR][1000 genomes]
rs3748884	0.88[ASN][1000 genomes]
rs3762477	0.92[ASN][1000 genomes]
rs6434007	0.88[ASN][1000 genomes]
rs6434008	0.89[ASN][1000 genomes]
rs6434009	0.89[ASN][1000 genomes]
rs6705625	0.82[ASN][1000 genomes]
rs6705795	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6709753	0.89[EUR][1000 genomes]
rs6715963	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6724387	0.89[EUR][1000 genomes]
rs6729425	0.88[ASN][1000 genomes]
rs6730009	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6732406	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6748218	0.88[ASN][1000 genomes]
rs6754938	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6758182	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6759975	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71427875	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs71427877	0.92[ASN][1000 genomes]
rs71427878	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71427880	0.81[ASN][1000 genomes]
rs73977848	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7587081	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7592910	0.95[ASN][1000 genomes]
rs7597557	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9917390	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][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	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
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183988200-183990800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:183988200-183991000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:183988200-183991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:183988400-183990800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:183988400-183991000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr2:183988400-183991000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:183988400-183991200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:183988400-183991200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:183988400-183991600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:183988800-183991200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:183988800-183991600	Active TSS	K562	blood
12	chr2:183989400-183990800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:183989400-183990800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:183989600-183990800	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:183989600-183991000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:183989800-183990800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:183989800-183991000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:183990000-183990800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:183990000-183990800	Flanking Active TSS	Fetal Kidney	kidney
20	chr2:183990000-183990800	Flanking Active TSS	HUVEC	blood vessel
21	chr2:183990000-183991000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr2:183990000-183991000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr2:183990000-183991000	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr2:183990000-183996200	Weak transcription	Lung	lung
25	chr2:183990000-184003600	Weak transcription	Left Ventricle	heart
26	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
27	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
30	chr2:183990200-183990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:183990200-183990800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:183990200-183990800	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:183990200-183990800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:183990200-183990800	Flanking Active TSS	Fetal Lung	lung
35	chr2:183990200-183990800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:183990200-183990800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:183990200-183991000	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:183990200-183991000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:183990200-183991000	Enhancers	Adipose Nuclei	Adipose
40	chr2:183990200-183991000	Enhancers	Brain Hippocampus Middle	brain
41	chr2:183990200-183991000	Enhancers	Right Ventricle	heart
42	chr2:183990200-183991000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:183990200-183991000	Enhancers	HSMM	muscle
44	chr2:183990200-183991200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:183990200-183991200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:183990200-183991200	Enhancers	Fetal Brain Male	brain
47	chr2:183990200-183991400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr2:183990200-183991400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:183990200-183991600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:183990200-183993600	Weak transcription	Primary monocytes fromperipheralblood	blood

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