Variant report

Variant	rs56000113
Chromosome Location	chr6:121597287-121597288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1273719	0.94[ASN][1000 genomes]
rs17083186	0.94[ASN][1000 genomes]
rs17083373	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083415	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083440	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154	1.00[ASN][1000 genomes]
rs2133990	1.00[ASN][1000 genomes]
rs2186097	0.97[ASN][1000 genomes]
rs2892765	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072142	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132315	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305755	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371872	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584021	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55731091	0.94[ASN][1000 genomes]
rs55799213	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55975505	0.84[AFR][1000 genomes]
rs55983388	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56927912	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58124381	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61047660	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61293964	1.00[ASN][1000 genomes]
rs6903467	1.00[ASN][1000 genomes]
rs6919916	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6920055	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920884	0.97[ASN][1000 genomes]
rs6925413	1.00[ASN][1000 genomes]
rs6941089	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73526695	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73528541	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73768932	1.00[ASN][1000 genomes]
rs73768938	1.00[ASN][1000 genomes]
rs7451033	1.00[ASN][1000 genomes]
rs7741356	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742071	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743455	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744891	1.00[ASN][1000 genomes]
rs7749984	1.00[ASN][1000 genomes]
rs7751636	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755977	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757350	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7759798	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761551	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765795	1.00[ASN][1000 genomes]
rs7767417	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768813	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9490148	0.85[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	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121575000-121606400	Weak transcription	NH-A	brain
2	chr6:121582200-121603400	Weak transcription	HSMMtube	muscle
3	chr6:121585400-121614200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:121585600-121625000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:121585800-121599000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:121586400-121655000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:121586600-121613000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:121588200-121616800	Weak transcription	Primary T cells from cord blood	blood
9	chr6:121588400-121655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:121588600-121612000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:121588600-121617600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:121588800-121604000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:121588800-121642000	Weak transcription	Left Ventricle	heart
14	chr6:121589000-121602600	Weak transcription	Liver	Liver
15	chr6:121589000-121632800	Weak transcription	Fetal Lung	lung
16	chr6:121589000-121635200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:121589000-121637600	Weak transcription	Ovary	ovary
18	chr6:121589000-121654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:121589200-121601400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:121589200-121605200	Weak transcription	Dnd41	blood
21	chr6:121589200-121622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:121589200-121630000	Weak transcription	Fetal Intestine Large	intestine
23	chr6:121589200-121631800	Weak transcription	Fetal Intestine Small	intestine
24	chr6:121589200-121655000	Weak transcription	Fetal Stomach	stomach
25	chr6:121589400-121612400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:121589600-121615600	Weak transcription	Fetal Brain Female	brain
27	chr6:121590200-121630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:121592400-121598600	Weak transcription	Small Intestine	intestine
29	chr6:121593800-121605800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:121594000-121606200	Weak transcription	NHLF	lung
31	chr6:121594200-121654800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:121594600-121622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:121595400-121616600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:121596000-121605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:121596200-121598200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:121596600-121605200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:121597200-121603400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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