Variant report

Variant	rs457106
Chromosome Location	chr5:118813240-118813241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:118813202-118813357	A549	lung:	n/a	chr5:118813277-118813290

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118804681..118808687-chr5:118810812..118814012,4	K562	blood:

Variant related genes	Relation type
HSD17B4	TF binding region
ENSG00000239084	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10077888	1.00[LWK][hapmap]
rs1490756	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs2259347	0.87[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2451816	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs250303	1.00[LWK][hapmap]
rs2546210	0.87[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs25640	0.89[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs257969	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs257970	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs257971	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs257972	0.86[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs257973	0.89[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs257974	0.92[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs257975	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs257978	0.86[EUR][1000 genomes]
rs26180	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs2678070	0.93[CEU][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2914210	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs2945327	0.89[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs32651	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs32652	1.00[LWK][hapmap]
rs32659	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs32662	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs32663	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs32665	0.82[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35235684	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3797368	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs3813309	1.00[LWK][hapmap]
rs39971	0.83[EUR][1000 genomes]
rs455949	0.82[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs461108	0.85[GIH][hapmap]
rs463098	0.87[CHB][hapmap]
rs463513	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6875595	0.81[GIH][hapmap]
rs924623	1.00[LWK][hapmap]

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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs457106	TNFAIP8	cis	lymphoblastoid	seeQTL
rs457106	PRR16	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:118789400-118831200	Weak transcription	NH-A	brain
3	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
4	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
7	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
9	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:118792400-118815000	Weak transcription	K562	blood
11	chr5:118794800-118861200	Weak transcription	HSMM	muscle
12	chr5:118795200-118813400	Weak transcription	Small Intestine	intestine
13	chr5:118804200-118813600	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:118804400-118820000	Weak transcription	NHDF-Ad	bronchial
16	chr5:118804600-118813400	Weak transcription	Right Ventricle	heart
17	chr5:118804600-118818800	Weak transcription	Stomach Mucosa	stomach
18	chr5:118804600-118819400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:118804800-118813400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:118804800-118821400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:118804800-118837000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:118805200-118813400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:118805200-118839400	Weak transcription	NHEK	skin
24	chr5:118805600-118813400	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:118805600-118817200	Weak transcription	Fetal Brain Female	brain
26	chr5:118805800-118817000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:118805800-118829400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:118806000-118813400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:118806000-118846400	Weak transcription	Esophagus	oesophagus
30	chr5:118806000-118846400	Weak transcription	Spleen	Spleen
31	chr5:118806200-118813400	Weak transcription	Ovary	ovary
32	chr5:118806200-118813600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:118806200-118831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:118806200-118844800	Weak transcription	Thymus	Thymus
35	chr5:118806200-118846400	Weak transcription	Pancreas	Pancrea
36	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:118806400-118815200	Weak transcription	Hela-S3	cervix
38	chr5:118806400-118831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:118806400-118845000	Weak transcription	Fetal Stomach	stomach
40	chr5:118806400-118846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:118806600-118813400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:118806600-118814600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:118806600-118832000	Weak transcription	HUVEC	blood vessel
44	chr5:118806800-118845400	Weak transcription	Fetal Heart	heart
45	chr5:118807200-118813600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:118808000-118815800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:118808000-118839600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr5:118808000-118839800	Weak transcription	Psoas Muscle	Psoas
49	chr5:118808200-118815800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr5:118808200-118816200	Strong transcription	Primary monocytes fromperipheralblood	blood

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