Variant report

Variant	rs11031043
Chromosome Location	chr11:4145385-4145386
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4139381..4140909-chr11:4144756..4147427,2	K562	blood:
2	chr11:4116269..4118457-chr11:4145281..4147453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167325	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1015998	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835613	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10835650	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11030976	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11030980	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11031062	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11031070	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1662161	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1662173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980412	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284452	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs232054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2735689	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2735691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34356743	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3794049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910913	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4910914	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs54816	0.83[AMR][1000 genomes]
rs9937	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11031043	RRM1	cis	Artery Tibial	GTEx
rs11031043	CHRNA10	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117600-4153000	Weak transcription	Stomach Mucosa	stomach
2	chr11:4117800-4147800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:4117800-4160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:4118000-4159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:4118400-4146400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:4118400-4156200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:4119400-4157600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:4121000-4159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:4122400-4158000	Strong transcription	Dnd41	blood
10	chr11:4122800-4158000	Strong transcription	Fetal Thymus	thymus
11	chr11:4123000-4152000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:4123000-4157600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:4123000-4157600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:4123000-4157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:4123200-4158000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:4124000-4157600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:4124000-4157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:4127000-4151000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:4127400-4148400	Weak transcription	Psoas Muscle	Psoas
21	chr11:4127600-4158000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:4131000-4150400	Strong transcription	Primary T cells from cord blood	blood
23	chr11:4131000-4157400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:4132200-4151600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr11:4137200-4149800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr11:4137400-4156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:4137600-4150600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:4137800-4158000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:4138000-4148200	Weak transcription	Pancreas	Pancrea
30	chr11:4138000-4149200	Strong transcription	Liver	Liver
31	chr11:4138200-4160600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:4138400-4155600	Strong transcription	Hela-S3	cervix
33	chr11:4138600-4157600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:4138600-4158000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:4138800-4157400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:4138800-4158000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:4138800-4160400	Strong transcription	Placenta	Placenta
38	chr11:4139000-4151000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:4139400-4150600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:4139400-4151000	Strong transcription	Primary B cells from cord blood	blood
41	chr11:4139400-4155000	Strong transcription	HUVEC	blood vessel
42	chr11:4139600-4153800	Strong transcription	HSMM	muscle
43	chr11:4139600-4157400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:4139800-4150400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:4139800-4158000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:4140000-4145800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:4140000-4150800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:4140200-4149400	Strong transcription	NHDF-Ad	bronchial
49	chr11:4140200-4150400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:4140200-4150600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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