Variant report

Variant	rs1790149
Chromosome Location	chr11:75188569-75188570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75186137..75188818-chr11:75245561..75247908,2	K562	blood:
2	chr11:75187397..75189556-chr11:75217050..75219601,2	K562	blood:
3	chr11:75179585..75185021-chr11:75186117..75188825,5	K562	blood:
4	chr11:75187049..75188638-chr11:75235705..75238592,2	K562	blood:
5	chr11:75186653..75188818-chr11:75244939..75247061,2	K562	blood:

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction
ENSG00000254460	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1004856	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs10751243	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1557471	0.85[YRI][hapmap]
rs1557474	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623440	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1631470	0.89[YRI][hapmap]
rs1631865	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790145	0.88[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790153	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790154	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1790155	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790156	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790158	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790160	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793398	0.81[JPT][hapmap]
rs1793411	0.88[ASW][hapmap];0.92[CEU][hapmap];0.92[CHB][hapmap];0.80[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1793412	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1793414	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs1793415	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894213	1.00[CHB][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs471857	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs473462	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs474056	0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs482458	1.00[CHB][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs482503	1.00[CHB][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs486326	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs488305	0.92[CHB][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs492309	0.86[EUR][1000 genomes]
rs504685	1.00[CHB][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs518611	1.00[CHB][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs523617	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs532454	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs535520	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs535523	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs546632	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs547844	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs550957	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609793	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs611449	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs623338	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs625938	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs628972	0.83[ASW][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs653673	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs668727	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1790149	IL18BP	cis	parietal	SCAN
rs1790149	ARAP1	cis	cerebellum	SCAN
rs1790149	C11orf51	cis	cerebellum	SCAN
rs1790149	PLEKHB1	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75181800-75188800	Enhancers	Fetal Muscle Trunk	muscle
2	chr11:75182400-75192400	Strong transcription	Fetal Intestine Large	intestine
3	chr11:75184400-75188800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:75184800-75188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:75185000-75189000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:75185400-75188800	Enhancers	Lung	lung
7	chr11:75185600-75188600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:75185600-75189000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:75185800-75188800	Enhancers	Liver	Liver
10	chr11:75186200-75188600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:75186600-75188600	Genic enhancers	Fetal Muscle Leg	muscle
12	chr11:75186600-75188800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:75186800-75188800	Genic enhancers	Placenta	Placenta
14	chr11:75186800-75188800	Enhancers	K562	blood
15	chr11:75186800-75189000	Enhancers	Pancreas	Pancrea
16	chr11:75187000-75190000	Weak transcription	Fetal Stomach	stomach
17	chr11:75187000-75193600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:75187000-75194800	Strong transcription	Fetal Intestine Small	intestine
19	chr11:75187000-75201400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:75187200-75191000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:75187200-75201200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:75187200-75203000	Weak transcription	Primary T cells from cord blood	blood
23	chr11:75187400-75190600	Weak transcription	Right Atrium	heart
24	chr11:75187400-75191400	Weak transcription	GM12878-XiMat	blood
25	chr11:75187400-75192000	Weak transcription	Thymus	Thymus
26	chr11:75187400-75192200	Strong transcription	HepG2	liver
27	chr11:75187400-75198200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:75187400-75202800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:75187400-75202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:75187400-75202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:75187400-75203000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:75187600-75190000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:75187600-75192600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:75187600-75201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:75187600-75202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:75187800-75189200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:75187800-75189400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:75187800-75189400	Weak transcription	Fetal Brain Female	brain
39	chr11:75187800-75189800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:75187800-75190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:75187800-75190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:75187800-75192800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:75187800-75201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:75188000-75190000	Strong transcription	Adipose Nuclei	Adipose
45	chr11:75188000-75201600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:75188200-75188800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:75188200-75189000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:75188200-75189000	Genic enhancers	Spleen	Spleen
49	chr11:75188200-75200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:75188400-75188800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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