Variant report

Variant	rs56059584
Chromosome Location	chr10:43889205-43889206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43832614..43835578-chr10:43888340..43890232,2	MCF-7	breast:
2	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
3	chr10:43873117..43874743-chr10:43887091..43889680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243660	Chromatin interaction
ENSG00000252532	Chromatin interaction

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

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

rs_ID	r²[population]
rs10793431	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10899794	0.88[ASN][1000 genomes]
rs10899797	0.96[ASN][1000 genomes]
rs10899798	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10899799	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11238526	0.95[ASN][1000 genomes]
rs1126709	0.99[ASN][1000 genomes]
rs12257917	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416226	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17153606	0.81[EUR][1000 genomes]
rs2066043	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2066044	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2247860	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2247979	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2247981	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2248332	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2248335	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2248469	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2248931	0.80[ASN][1000 genomes]
rs2250444	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2252783	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2252785	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2252800	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252804	0.90[AFR][1000 genomes]
rs2255967	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256495	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2260200	0.82[AFR][1000 genomes]
rs2261636	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2265886	0.85[AFR][1000 genomes]
rs2265887	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2265888	0.81[AFR][1000 genomes]
rs2265952	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265953	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265954	0.82[AFR][1000 genomes]
rs2460558	0.88[ASN][1000 genomes]
rs2492404	0.85[ASN][1000 genomes]
rs2492405	0.84[AFR][1000 genomes]
rs2492407	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2492408	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2492409	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2492410	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2492411	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2492412	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2493648	0.82[AFR][1000 genomes]
rs2819032	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819033	0.82[EUR][1000 genomes]
rs2819034	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2946992	0.88[ASN][1000 genomes]
rs2999276	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2999282	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2999286	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2999287	0.86[AFR][1000 genomes]
rs3000700	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4584528	0.84[AFR][1000 genomes]
rs4597022	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4948726	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60739384	0.88[ASN][1000 genomes]
rs61859002	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6421744	0.80[AFR][1000 genomes]
rs7069214	0.82[AFR][1000 genomes]
rs7070029	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7088430	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7092125	0.81[EUR][1000 genomes]
rs7092599	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7894374	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7905676	0.99[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	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43858600-43891000	Weak transcription	Right Atrium	heart
2	chr10:43873200-43890200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:43873400-43891000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:43879200-43889800	Strong transcription	Brain Germinal Matrix	brain
5	chr10:43879400-43889400	Strong transcription	Fetal Brain Female	brain
6	chr10:43879600-43889400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:43879800-43889400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr10:43879800-43890600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:43880000-43889400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:43880000-43889600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:43880000-43889600	Strong transcription	Thymus	Thymus
12	chr10:43880000-43890200	Strong transcription	Fetal Muscle Leg	muscle
13	chr10:43880000-43890200	Strong transcription	HSMMtube	muscle
14	chr10:43880000-43890400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr10:43880000-43890800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr10:43880200-43890000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:43880200-43890200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:43880200-43890200	Strong transcription	Osteobl	bone
19	chr10:43880200-43890800	Strong transcription	HSMM	muscle
20	chr10:43880400-43889600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:43880400-43890200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:43880400-43890400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:43880400-43890400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:43880400-43890800	Strong transcription	Hela-S3	cervix
25	chr10:43880600-43889600	Strong transcription	Esophagus	oesophagus
26	chr10:43880600-43890600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:43880600-43890600	Strong transcription	NH-A	brain
28	chr10:43880800-43889400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:43880800-43889800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:43880800-43890200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:43881000-43889400	Strong transcription	HUVEC	blood vessel
32	chr10:43881000-43889600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:43881000-43890000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:43881000-43890400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr10:43881200-43889600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr10:43881200-43890000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr10:43881200-43890800	Strong transcription	Lung	lung
38	chr10:43881600-43890000	Strong transcription	NHDF-Ad	bronchial
39	chr10:43881800-43889400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr10:43881800-43890000	Strong transcription	NHLF	lung
41	chr10:43882000-43889600	Strong transcription	Colonic Mucosa	Colon
42	chr10:43882000-43889800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:43882000-43889800	Strong transcription	Aorta	Aorta
44	chr10:43882000-43889800	Strong transcription	Small Intestine	intestine
45	chr10:43882000-43890000	Strong transcription	Ovary	ovary
46	chr10:43882000-43890200	Strong transcription	Fetal Stomach	stomach
47	chr10:43882000-43890400	Strong transcription	Rectal Smooth Muscle	rectum
48	chr10:43882200-43890400	Strong transcription	NHEK	skin
49	chr10:43882600-43891000	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr10:43883000-43890400	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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