Variant report

Variant	rs1702799
Chromosome Location	chr4:48621022-48621023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10029425	1.00[AMR][1000 genomes]
rs10034207	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10049760	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10755182	1.00[AMR][1000 genomes]
rs10805171	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10805172	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10938535	1.00[AMR][1000 genomes]
rs10938538	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10938539	1.00[AMR][1000 genomes]
rs10938541	1.00[AMR][1000 genomes]
rs12500224	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12500244	1.00[AMR][1000 genomes]
rs12507475	1.00[AMR][1000 genomes]
rs12507546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13125379	1.00[AMR][1000 genomes]
rs1474072	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1517673	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1517676	1.00[AMR][1000 genomes]
rs1517677	1.00[AMR][1000 genomes]
rs1533511	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1554257	1.00[AMR][1000 genomes]
rs1616561	1.00[AMR][1000 genomes]
rs1702796	1.00[AMR][1000 genomes]
rs1712762	1.00[YRI][hapmap]
rs1712771	1.00[AMR][1000 genomes]
rs1949422	1.00[AMR][1000 genomes]
rs2138866	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2138867	1.00[AMR][1000 genomes]
rs2354939	0.82[YRI][hapmap]
rs28371079	1.00[AMR][1000 genomes]
rs2883410	1.00[AMR][1000 genomes]
rs2940319	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4235155	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4235157	1.00[AMR][1000 genomes]
rs4235159	0.93[AFR][1000 genomes]
rs4330326	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4558842	1.00[AMR][1000 genomes]
rs4694896	1.00[AMR][1000 genomes]
rs4694898	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694903	1.00[AMR][1000 genomes]
rs4695385	1.00[AMR][1000 genomes]
rs4695386	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695390	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695402	1.00[AMR][1000 genomes]
rs4695403	1.00[AMR][1000 genomes]
rs4695405	1.00[AMR][1000 genomes]
rs4695406	0.82[YRI][hapmap]
rs4998005	1.00[AMR][1000 genomes]
rs6447642	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6447643	1.00[YRI][hapmap]
rs6447654	1.00[AMR][1000 genomes]
rs6447656	1.00[AMR][1000 genomes]
rs6447657	1.00[AMR][1000 genomes]
rs6821456	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6823351	1.00[AMR][1000 genomes]
rs6827481	1.00[AMR][1000 genomes]
rs6828500	1.00[AMR][1000 genomes]
rs6835757	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844088	1.00[AMR][1000 genomes]
rs6846797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848222	1.00[AMR][1000 genomes]
rs6848417	1.00[AMR][1000 genomes]
rs6849798	1.00[AMR][1000 genomes]
rs6853876	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs707720	1.00[AMR][1000 genomes]
rs7434721	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664507	1.00[AMR][1000 genomes]
rs7689293	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7689662	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7692480	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7698064	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs776581	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs776583	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776589	1.00[AMR][1000 genomes]
rs776595	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776603	1.00[AMR][1000 genomes]
rs813856	0.81[AFR][1000 genomes]
rs938791	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9994214	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9997932	1.00[AMR][1000 genomes]
rs9998178	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][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	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
2	chr4:48557800-48622400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:48562800-48623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:48563000-48637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
6	chr4:48578600-48637000	Weak transcription	Esophagus	oesophagus
7	chr4:48588400-48644600	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:48590600-48627600	Weak transcription	Fetal Brain Female	brain
9	chr4:48591200-48626600	Weak transcription	Ovary	ovary
10	chr4:48592200-48623200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:48594000-48622600	Weak transcription	Psoas Muscle	Psoas
12	chr4:48594000-48637400	Weak transcription	Spleen	Spleen
13	chr4:48597800-48644600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:48598000-48623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:48598200-48634800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:48605200-48621400	Weak transcription	HMEC	breast
17	chr4:48605400-48622000	Weak transcription	Osteobl	bone
18	chr4:48606000-48626800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:48606800-48622400	Weak transcription	Brain Angular Gyrus	brain
20	chr4:48606800-48624800	Weak transcription	Right Ventricle	heart
21	chr4:48606800-48637800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:48606800-48645000	Weak transcription	Gastric	stomach
23	chr4:48607000-48625400	Weak transcription	Stomach Mucosa	stomach
24	chr4:48607400-48622400	Weak transcription	HepG2	liver
25	chr4:48608000-48625400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:48609600-48622000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr4:48609800-48637000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:48611400-48623800	Weak transcription	Fetal Brain Male	brain
29	chr4:48611800-48621200	Weak transcription	NHEK	skin
30	chr4:48613000-48624800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:48613400-48623000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:48614200-48622000	Weak transcription	Brain Anterior Caudate	brain
33	chr4:48614200-48622200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr4:48614400-48621800	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:48614400-48628800	Weak transcription	Fetal Kidney	kidney
36	chr4:48614600-48637000	Weak transcription	Small Intestine	intestine
37	chr4:48615600-48623400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:48616200-48625400	Strong transcription	Primary B cells from cord blood	blood
39	chr4:48616400-48625600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:48616600-48624200	Weak transcription	Brain Germinal Matrix	brain
41	chr4:48617200-48621800	Strong transcription	Fetal Intestine Large	intestine
42	chr4:48617200-48623200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:48617200-48623400	Strong transcription	Primary T cells from cord blood	blood
44	chr4:48617600-48623200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:48617800-48625200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:48617800-48627000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:48618200-48627800	Strong transcription	Dnd41	blood
48	chr4:48618400-48621400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:48618400-48621600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:48618400-48621600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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