Variant report

Variant	rs6727471
Chromosome Location	chr2:46855503-46855504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46854125..46858531-chr2:46860398..46864023,5	K562	blood:
2	chr2:46842803..46845605-chr2:46855285..46857185,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119878	Chromatin interaction
ENSG00000151665	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1057899	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060656	1.00[ASN][1000 genomes]
rs11306	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1137748	1.00[ASN][1000 genomes]
rs11901678	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903907	0.87[ASN][1000 genomes]
rs13404342	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13406609	1.00[ASN][1000 genomes]
rs13410076	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376406	1.00[ASN][1000 genomes]
rs1456018	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035272	0.87[ASN][1000 genomes]
rs17035361	1.00[ASN][1000 genomes]
rs1809087	0.87[ASN][1000 genomes]
rs2276554	0.97[ASN][1000 genomes]
rs3213985	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768723	1.00[ASN][1000 genomes]
rs3768724	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4300884	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377377	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57134465	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57955462	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58101879	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58342271	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59183773	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59823825	0.87[ASN][1000 genomes]
rs60211996	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60738814	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61252474	1.00[ASN][1000 genomes]
rs6544904	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544908	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6713104	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719813	1.00[ASN][1000 genomes]
rs6733143	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756134	1.00[ASN][1000 genomes]
rs68104662	0.93[ASN][1000 genomes]
rs72875696	0.87[ASN][1000 genomes]
rs7563577	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591561	0.87[ASN][1000 genomes]
rs7592446	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs962467	0.87[ASN][1000 genomes]
rs9808496	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
9	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46844800-46865600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:46844800-46868400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:46844800-46868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:46844800-46868800	Weak transcription	Esophagus	oesophagus
5	chr2:46844800-46872200	Weak transcription	Pancreas	Pancrea
6	chr2:46845400-46858400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:46845400-46864800	Weak transcription	Psoas Muscle	Psoas
8	chr2:46845400-46867000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:46845400-46871000	Weak transcription	Stomach Mucosa	stomach
10	chr2:46845400-46873000	Weak transcription	Right Ventricle	heart
11	chr2:46845600-46868200	Weak transcription	Aorta	Aorta
12	chr2:46845600-46868800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:46846000-46868600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:46846200-46857400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:46846400-46856000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:46846400-46857800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:46846800-46857200	Strong transcription	Adipose Nuclei	Adipose
18	chr2:46846800-46857800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:46846800-46858200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:46846800-46858200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:46846800-46858400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:46846800-46858400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:46846800-46858600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:46846800-46859400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:46848000-46856200	Weak transcription	Gastric	stomach
26	chr2:46848400-46857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:46848600-46860000	Weak transcription	NHLF	lung
28	chr2:46848600-46860600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:46848600-46861800	Weak transcription	GM12878-XiMat	blood
30	chr2:46848600-46864800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:46848600-46867400	Weak transcription	Lung	lung
32	chr2:46848600-46871200	Weak transcription	HSMMtube	muscle
33	chr2:46848600-46872600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:46848600-46872800	Weak transcription	Left Ventricle	heart
35	chr2:46848600-46872800	Weak transcription	Ovary	ovary
36	chr2:46848800-46858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:46848800-46868000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:46848800-46871000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:46848800-46872600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:46848800-46873000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:46849000-46858600	Weak transcription	Fetal Kidney	kidney
42	chr2:46849000-46859600	Weak transcription	Fetal Brain Male	brain
43	chr2:46849000-46859600	Weak transcription	K562	blood
44	chr2:46849000-46861800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:46849000-46868600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:46849000-46868600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:46849000-46877200	Weak transcription	Brain Substantia Nigra	brain
48	chr2:46849200-46857000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:46849200-46859400	Weak transcription	NHDF-Ad	bronchial
50	chr2:46849200-46861600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links