Variant report

Variant	rs10742242
Chromosome Location	chr11:4156851-4156852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4149701..4154222-chr11:4154719..4157955,5	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10767845	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835611	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835684	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030918	0.86[EUR][1000 genomes]
rs11031110	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12290828	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12806698	0.84[ASN][1000 genomes]
rs2056853	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2165728	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268168	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2284450	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34832073	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35359151	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817657	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910599	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910886	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910887	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910889	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910891	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4910904	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7111104	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7130580	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7932702	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7940013	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7949663	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9666229	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666857	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active 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	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10742242	RRM1	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117800-4160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:4118000-4159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:4119400-4157600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:4121000-4159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:4122400-4158000	Strong transcription	Dnd41	blood
6	chr11:4122800-4158000	Strong transcription	Fetal Thymus	thymus
7	chr11:4123000-4157600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:4123000-4157600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:4123000-4157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:4123200-4158000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr11:4124000-4157600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:4124000-4157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:4127600-4158000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:4131000-4157400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:4137800-4158000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:4138200-4160600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:4138600-4157600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:4138600-4158000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr11:4138800-4157400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:4138800-4158000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:4138800-4160400	Strong transcription	Placenta	Placenta
23	chr11:4139600-4157400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:4139800-4158000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:4140400-4157400	Strong transcription	Fetal Lung	lung
26	chr11:4140400-4157600	Strong transcription	K562	blood
27	chr11:4140400-4158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:4143200-4159400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:4144000-4159400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:4144200-4158000	Strong transcription	GM12878-XiMat	blood
31	chr11:4144800-4160800	Weak transcription	Colonic Mucosa	Colon
32	chr11:4145400-4158200	Weak transcription	Esophagus	oesophagus
33	chr11:4145600-4157400	Weak transcription	Small Intestine	intestine
34	chr11:4145600-4159400	Weak transcription	Fetal Heart	heart
35	chr11:4147200-4158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:4148400-4159200	Weak transcription	Fetal Brain Male	brain
37	chr11:4148600-4164800	Weak transcription	HSMMtube	muscle
38	chr11:4148800-4165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:4149200-4159400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:4149200-4159400	Weak transcription	Brain Anterior Caudate	brain
41	chr11:4149200-4159600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:4149200-4160600	Weak transcription	Spleen	Spleen
43	chr11:4149200-4164600	Weak transcription	Gastric	stomach
44	chr11:4149400-4162200	Weak transcription	Psoas Muscle	Psoas
45	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
46	chr11:4149800-4159400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:4149800-4160600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:4151400-4157600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:4151600-4158000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr11:4151600-4158000	Strong transcription	Fetal Muscle Trunk	muscle

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