Variant report

Variant	rs443071
Chromosome Location	chr1:220925241-220925242
allele	C/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	chr1:220925020-220925308	HepG2	liver:	n/a	chr1:220925172-220925183

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220923442..220925865-chr7:104652802..104654696,2	MCF-7	breast:

Variant related genes	Relation type
MARC2	TF binding region
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10779415	0.93[CEU][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs10863562	0.93[CEU][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs11118597	0.93[CEU][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs11118599	0.84[JPT][hapmap]
rs12738691	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12758783	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs189231	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs234223	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2935225	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2994529	0.91[EUR][1000 genomes]
rs2994530	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3015251	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3015252	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs337147	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs337148	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs337150	0.83[EUR][1000 genomes]
rs337156	0.85[EUR][1000 genomes]
rs337158	0.84[EUR][1000 genomes]
rs337159	0.85[EUR][1000 genomes]
rs337160	0.84[EUR][1000 genomes]
rs337161	0.84[EUR][1000 genomes]
rs337162	0.85[EUR][1000 genomes]
rs337164	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs337187	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs337189	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs337190	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs337191	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs365346	0.93[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs365398	0.87[EUR][1000 genomes]
rs365693	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795536	0.93[CEU][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs381023	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs382959	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs386118	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs391315	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs393585	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs421736	0.86[EUR][1000 genomes]
rs425473	0.93[CEU][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs439130	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs443189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6659246	0.90[TSI][hapmap]
rs6659604	0.92[EUR][1000 genomes]
rs7519414	0.80[JPT][hapmap]
rs7539769	0.80[JPT][hapmap]
rs7542648	0.80[JPT][hapmap]
rs774138	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9430990	0.93[CEU][hapmap]

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	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs443071	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs443071	C1orf115	cis	multi-tissue	Pritchard
rs443071	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
2	chr1:220922600-220925400	Weak transcription	Gastric	stomach
3	chr1:220922600-220927000	Weak transcription	Small Intestine	intestine
4	chr1:220922600-220928800	Weak transcription	Brain Substantia Nigra	brain
5	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
7	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:220922800-220925400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:220922800-220926000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:220922800-220929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:220923200-220925600	Enhancers	HepG2	liver
16	chr1:220923200-220926600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:220923200-220927200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:220923200-220927400	Enhancers	Pancreas	Pancrea
19	chr1:220923200-220930400	Weak transcription	Spleen	Spleen
20	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:220923400-220927000	Enhancers	Right Ventricle	heart
22	chr1:220923600-220926200	Enhancers	Psoas Muscle	Psoas
23	chr1:220923800-220925600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:220923800-220925800	Enhancers	Ovary	ovary
25	chr1:220923800-220928200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:220923800-220928200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:220923800-220928200	Weak transcription	Placenta	Placenta
28	chr1:220923800-220928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:220924000-220926000	Flanking Active TSS	Liver	Liver
30	chr1:220924000-220926000	Enhancers	Right Atrium	heart
31	chr1:220924000-220927200	Weak transcription	NHLF	lung
32	chr1:220924000-220927400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:220924000-220927600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:220924000-220928400	Weak transcription	Aorta	Aorta
35	chr1:220924000-220928600	Weak transcription	A549	lung
36	chr1:220924200-220925400	Enhancers	Fetal Brain Female	brain
37	chr1:220924200-220925400	Enhancers	Fetal Kidney	kidney
38	chr1:220924200-220925600	Enhancers	Fetal Brain Male	brain
39	chr1:220924200-220926000	Enhancers	Adipose Nuclei	Adipose
40	chr1:220924200-220928200	Weak transcription	HUVEC	blood vessel
41	chr1:220924200-220929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:220924200-220931000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:220924200-220936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:220924400-220927800	Enhancers	Left Ventricle	heart
45	chr1:220924400-220928000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:220924400-220928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:220924400-220928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:220924600-220925400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:220924600-220936800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain

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