Variant report

Variant	rs2214846
Chromosome Location	chr7:40592053-40592054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10226881	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228522	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239229	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240076	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241399	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs10260770	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262003	0.87[AFR][1000 genomes]
rs10264524	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10273835	0.81[YRI][hapmap]
rs10277710	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282307	0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1034804	0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11486857	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171712	0.83[YRI][hapmap]
rs17171725	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171735	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171746	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171748	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs17171754	0.94[YRI][hapmap];0.80[AFR][1000 genomes]
rs28479858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28565517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28644197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4492257	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs57955744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60699942	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943218	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6960628	0.88[YRI][hapmap]
rs6975971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782395	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782411	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801001	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9655412	0.81[YRI][hapmap]
rs9886164	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40590000-40595200	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:40590400-40592200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:40590400-40592600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr7:40590600-40592200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:40590800-40592600	Enhancers	HUVEC	blood vessel
6	chr7:40591000-40592200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:40591000-40592200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:40591000-40592200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:40591000-40592200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:40591000-40592200	Enhancers	Fetal Lung	lung
11	chr7:40591000-40592200	Enhancers	NH-A	brain
12	chr7:40591000-40592200	Enhancers	NHDF-Ad	bronchial
13	chr7:40591000-40592200	Enhancers	Osteobl	bone
14	chr7:40591200-40592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:40591200-40592200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:40591200-40592200	Enhancers	Fetal Kidney	kidney
17	chr7:40591200-40592200	Enhancers	HMEC	breast
18	chr7:40591200-40592200	Enhancers	HSMMtube	muscle
19	chr7:40591200-40592200	Enhancers	NHLF	lung
20	chr7:40591200-40592400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr7:40591200-40592400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr7:40591200-40592600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:40591200-40592600	Enhancers	HSMM	muscle
24	chr7:40591400-40592200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:40591400-40592200	Enhancers	Fetal Thymus	thymus
26	chr7:40591400-40592200	Enhancers	Left Ventricle	heart
27	chr7:40591400-40592200	Enhancers	Spleen	Spleen
28	chr7:40591400-40592200	Enhancers	K562	blood
29	chr7:40591400-40592600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:40591400-40592600	Enhancers	Dnd41	blood
31	chr7:40591600-40592200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:40591600-40592200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr7:40591600-40592200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr7:40591600-40592200	Enhancers	Adipose Nuclei	Adipose
35	chr7:40591600-40592200	Enhancers	Fetal Intestine Large	intestine
36	chr7:40591600-40592200	Enhancers	GM12878-XiMat	blood
37	chr7:40591600-40592400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:40591800-40592200	Enhancers	Placenta	Placenta
39	chr7:40591800-40592200	Enhancers	Fetal Stomach	stomach
40	chr7:40591800-40592200	Enhancers	HepG2	liver
41	chr7:40591800-40595400	Weak transcription	Aorta	Aorta
42	chr7:40592000-40592200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:40592000-40595600	Weak transcription	Fetal Heart	heart

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