Variant report

Variant	rs17091163
Chromosome Location	chr12:42780205-42780206
allele	C/T
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	ZNF143	chr12:42780153-42780253	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42778808..42780511-chr12:42787009..42789795,2	K562	blood:

Variant related genes	Relation type
PPHLN1	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10160853	0.83[ASN][1000 genomes]
rs1037401	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10506175	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11181373	0.83[ASN][1000 genomes]
rs1139095	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830387	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832838	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297206	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs12300188	0.85[ASN][1000 genomes]
rs12312515	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12315471	0.83[ASN][1000 genomes]
rs12317772	0.83[ASN][1000 genomes]
rs12318401	0.83[ASN][1000 genomes]
rs17091061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17091083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091094	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091117	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17091138	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091220	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs17091226	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17121217	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1962526	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987127	0.88[ASN][1000 genomes]
rs2305423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406676	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747559	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810787	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3911246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57447201	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653125	0.83[EUR][1000 genomes]
rs58594062	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59402225	0.95[EUR][1000 genomes]
rs59423833	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59501472	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60092940	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60287587	0.83[ASN][1000 genomes]
rs60598518	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60659836	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67128387	0.83[EUR][1000 genomes]
rs73114487	0.83[ASN][1000 genomes]
rs73116432	0.88[ASN][1000 genomes]
rs73116492	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73118486	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120410	0.95[EUR][1000 genomes]
rs73120468	0.95[EUR][1000 genomes]
rs73120476	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120499	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124406	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124495	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126404	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126407	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126412	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126433	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73126453	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73131138	0.83[ASN][1000 genomes]
rs7961228	0.88[ASN][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	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17091163	ZCRB1	cis	multi-tissue	Pritchard

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
3	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:42721800-42797000	Weak transcription	NHLF	lung
5	chr12:42721800-42803600	Weak transcription	Gastric	stomach
6	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
7	chr12:42732200-42781200	Weak transcription	Fetal Brain Female	brain
8	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:42738000-42787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:42759400-42783200	Weak transcription	A549	lung
13	chr12:42761200-42782200	Weak transcription	Lung	lung
14	chr12:42763800-42804200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:42766200-42796800	Weak transcription	Aorta	Aorta
16	chr12:42766600-42781600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
18	chr12:42769800-42794200	Weak transcription	Left Ventricle	heart
19	chr12:42770000-42794000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:42770200-42783400	Weak transcription	NHDF-Ad	bronchial
21	chr12:42770200-42786600	Weak transcription	HSMM	muscle
22	chr12:42770200-42815800	Weak transcription	Fetal Lung	lung
23	chr12:42770400-42781400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:42770400-42790400	Weak transcription	HUVEC	blood vessel
25	chr12:42770400-42795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:42770400-42816600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:42770600-42787200	Weak transcription	GM12878-XiMat	blood
28	chr12:42770800-42782000	Weak transcription	Placenta	Placenta
29	chr12:42771000-42781400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:42771000-42781600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:42771000-42781800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:42771000-42781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:42771000-42781800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:42771000-42782400	Weak transcription	Fetal Stomach	stomach
35	chr12:42771000-42792600	Weak transcription	HepG2	liver
36	chr12:42771000-42795000	Weak transcription	HSMMtube	muscle
37	chr12:42771000-42796800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:42771000-42799000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:42771200-42781000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:42771200-42781000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:42771200-42781800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:42771200-42794400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:42771200-42801000	Weak transcription	NH-A	brain
44	chr12:42771400-42780800	Weak transcription	Fetal Intestine Large	intestine
45	chr12:42771400-42781000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:42771400-42781400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:42771400-42783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:42771600-42780800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:42771600-42781000	Weak transcription	Liver	Liver
50	chr12:42771600-42781800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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