Variant report

Variant	rs16893158
Chromosome Location	chr4:16183109-16183110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16181639..16184226-chr4:16188641..16191282,2	K562	blood:
2	chr4:16182193..16183806-chr4:16249768..16252550,2	K562	blood:
3	chr4:16176527..16179395-chr4:16180746..16183280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10516298	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10516299	0.90[CHD][hapmap]
rs10939653	0.97[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs11724076	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11724423	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11724467	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11731602	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11736424	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11736827	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12504884	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12506249	0.82[ASN][1000 genomes]
rs12506478	0.95[ASN][1000 genomes]
rs12513244	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12643544	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12645055	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12651110	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1373112	0.92[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1662652	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1662654	0.85[CHD][hapmap]
rs16893099	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16893119	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16893138	0.89[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16893143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16893144	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16893147	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs178450	0.87[CHD][hapmap]
rs28645901	0.82[ASN][1000 genomes]
rs317869	0.85[CHD][hapmap]
rs317874	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs317878	0.88[CHD][hapmap]
rs35851218	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56023844	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56218994	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57089965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58047733	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60460559	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60768295	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73128422	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73128457	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130433	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73130439	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73130445	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73130449	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130451	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130453	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130456	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs894639	0.90[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16893158	IL1R1	trans	lymphoblastoid	seeQTL
rs16893158	MYO6	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16161600-16186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:16161800-16193200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr4:16162600-16183200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr4:16163000-16183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:16163000-16183200	Strong transcription	Placenta	Placenta
6	chr4:16163200-16183400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:16163200-16183400	Weak transcription	Hela-S3	cervix
8	chr4:16163200-16195800	Weak transcription	HMEC	breast
9	chr4:16164400-16195000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:16165000-16190800	Weak transcription	HUVEC	blood vessel
11	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:16168200-16187400	Weak transcription	Osteobl	bone
14	chr4:16168200-16198000	Weak transcription	A549	lung
15	chr4:16168400-16194600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:16168400-16197800	Weak transcription	NHLF	lung
17	chr4:16168400-16198000	Weak transcription	NH-A	brain
18	chr4:16168600-16191000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:16168600-16198000	Weak transcription	NHEK	skin
20	chr4:16170400-16191400	Weak transcription	Colonic Mucosa	Colon
21	chr4:16170600-16191000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:16171600-16191000	Weak transcription	Esophagus	oesophagus
25	chr4:16171600-16191600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:16171600-16194400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:16171600-16198000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:16172000-16187200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:16172000-16191000	Weak transcription	Pancreas	Pancrea
30	chr4:16172000-16191000	Weak transcription	Small Intestine	intestine
31	chr4:16172000-16191000	Weak transcription	Spleen	Spleen
32	chr4:16172000-16198000	Weak transcription	HSMMtube	muscle
33	chr4:16172200-16190800	Weak transcription	Right Ventricle	heart
34	chr4:16172400-16187400	Weak transcription	Fetal Kidney	kidney
35	chr4:16172600-16191000	Weak transcription	Fetal Brain Female	brain
36	chr4:16172800-16190800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:16174400-16196800	Weak transcription	Stomach Mucosa	stomach
38	chr4:16175000-16187200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:16175000-16187400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:16176000-16191200	Weak transcription	NHDF-Ad	bronchial
41	chr4:16176200-16198000	Weak transcription	HSMM	muscle
42	chr4:16177000-16194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:16177600-16183800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:16177600-16184200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr4:16178000-16183600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:16178400-16183200	Strong transcription	Dnd41	blood
47	chr4:16178600-16188000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:16178800-16187200	Weak transcription	Lung	lung
49	chr4:16178800-16191000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:16178800-16191400	Weak transcription	Gastric	stomach

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