Variant report

Variant	rs7209700
Chromosome Location	chr17:45351118-45351119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:
2	chr17:45350786..45352366-chr17:45359022..45360755,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1000232	0.95[CEU][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11656809	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11656865	0.80[EUR][1000 genomes]
rs11657963	0.80[EUR][1000 genomes]
rs12949936	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs15908	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs16941801	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2015729	0.80[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs2292699	0.83[YRI][hapmap]
rs2292863	0.84[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2292865	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs3851806	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs3851807	0.80[CEU][hapmap]
rs4634	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4642	0.90[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56327427	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7212751	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs7214468	0.80[YRI][hapmap]
rs8066295	0.80[EUR][1000 genomes]
rs8073827	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs8074094	0.80[EUR][1000 genomes]
rs8074348	0.93[AFR][1000 genomes]
rs8080254	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
IgG glycosylation	23382691	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7209700	TBKBP1	cis	multi-tissue	Pritchard

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
2	chr17:45343600-45352600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45343800-45351200	Weak transcription	Ovary	ovary
4	chr17:45343800-45351200	Weak transcription	Right Ventricle	heart
5	chr17:45343800-45352600	Weak transcription	Spleen	Spleen
6	chr17:45344000-45352600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:45344800-45351800	Weak transcription	Right Atrium	heart
8	chr17:45345000-45351600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr17:45345000-45351800	Weak transcription	Left Ventricle	heart
10	chr17:45345400-45351800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr17:45345800-45352000	Weak transcription	NHLF	lung
12	chr17:45346200-45353200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr17:45346600-45352200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:45346800-45352600	Weak transcription	Fetal Intestine Small	intestine
15	chr17:45346800-45353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:45347800-45351200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:45348400-45351600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:45348400-45351800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:45348400-45351800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:45348400-45352200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:45348600-45352000	Weak transcription	Osteobl	bone
22	chr17:45348800-45351600	Weak transcription	NHDF-Ad	bronchial
23	chr17:45348800-45352400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:45350200-45351600	Weak transcription	Gastric	stomach
25	chr17:45350600-45351400	Enhancers	K562	blood
26	chr17:45350600-45351600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:45350600-45352600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45350600-45352800	Enhancers	Colon Smooth Muscle	Colon
29	chr17:45350600-45353400	Enhancers	Fetal Heart	heart
30	chr17:45350600-45355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:45350600-45355000	Enhancers	Aorta	Aorta
32	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:45350800-45351600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:45350800-45351800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:45350800-45352800	Weak transcription	Primary B cells from cord blood	blood
36	chr17:45351000-45351600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:45351000-45351800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr17:45351000-45351800	Enhancers	Duodenum Mucosa	Duodenum
39	chr17:45351000-45351800	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links