Variant report

Variant	rs2652698
Chromosome Location	chr5:118846761-118846762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1143650	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2431545	1.00[AFR][1000 genomes]
rs2546206	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546207	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546208	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546209	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560719	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560720	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560721	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560724	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636960	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636967	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636970	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678069	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678072	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678073	1.00[AMR][1000 genomes]
rs2678075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678083	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678093	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34053410	1.00[AMR][1000 genomes]
rs35121430	1.00[AMR][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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118794800-118861200	Weak transcription	HSMM	muscle
2	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118816000-118847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:118827600-118847800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:118832400-118878200	Weak transcription	NH-A	brain
7	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:118833000-118860200	Weak transcription	Stomach Mucosa	stomach
9	chr5:118834400-118847800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:118836000-118850600	Weak transcription	HUVEC	blood vessel
11	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
13	chr5:118841000-118849800	Weak transcription	Osteobl	bone
14	chr5:118841000-118856600	Strong transcription	Liver	Liver
15	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
16	chr5:118841200-118880000	Weak transcription	A549	lung
17	chr5:118841400-118849000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
19	chr5:118841600-118849000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:118842000-118847800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:118842200-118847400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:118842200-118860200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:118842400-118853000	Strong transcription	Adipose Nuclei	Adipose
24	chr5:118842600-118847600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:118842600-118848600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:118843800-118847400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:118843800-118848600	Strong transcription	Fetal Intestine Large	intestine
28	chr5:118843800-118849000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:118843800-118851400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:118843800-118852800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:118844000-118847400	Strong transcription	Hela-S3	cervix
32	chr5:118844000-118849600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:118844200-118847600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:118844200-118848400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:118844200-118849000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:118844400-118847000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr5:118844400-118847000	Strong transcription	Right Ventricle	heart
38	chr5:118844400-118847200	Strong transcription	Primary T cells from cord blood	blood
39	chr5:118844400-118847200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:118844400-118847400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:118844400-118847400	Strong transcription	Left Ventricle	heart
42	chr5:118844400-118847400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:118844400-118847600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:118844400-118847600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:118844400-118847600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:118844400-118847600	Strong transcription	Dnd41	blood
47	chr5:118844400-118848600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr5:118844400-118852600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:118844400-118852800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:118844600-118847200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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