Variant report

Variant	rs11030536
Chromosome Location	chr11:4012971-4012972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10742223	0.87[AFR][1000 genomes]
rs10767807	0.87[AFR][1000 genomes]
rs11030394	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11030608	0.81[EUR][1000 genomes]
rs11030907	0.83[AFR][1000 genomes]
rs11604649	0.85[AFR][1000 genomes]
rs12419208	0.85[AFR][1000 genomes]
rs1372805	0.85[AFR][1000 genomes]
rs2304891	0.87[AFR][1000 genomes]
rs2920139	0.85[AFR][1000 genomes]
rs2920144	0.85[AFR][1000 genomes]
rs2923944	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2923945	0.93[EUR][1000 genomes]
rs2923948	0.81[EUR][1000 genomes]
rs2923953	0.89[AFR][1000 genomes]
rs2923956	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2958713	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2958714	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2959056	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2959065	0.87[EUR][1000 genomes]
rs2959066	0.85[AFR][1000 genomes]
rs2959077	0.83[EUR][1000 genomes]
rs2959079	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2959081	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61188043	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7102508	0.87[AFR][1000 genomes]
rs7116520	0.87[AFR][1000 genomes]
rs747883	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv971974	chr11:4009259-4018790	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11030536	RRM1	cis	Nerve Tibial	GTEx
rs11030536	RRM1	cis	Artery Tibial	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
2	chr11:3994400-4016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:4003200-4016600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:4006200-4013800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:4006400-4016600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:4006800-4022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:4007200-4013800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:4007200-4014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:4007800-4015000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:4008600-4015400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:4009000-4013800	Weak transcription	Primary B cells from cord blood	blood
12	chr11:4009400-4017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:4009400-4020200	Weak transcription	Pancreas	Pancrea
14	chr11:4009600-4017200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:4010800-4015800	Weak transcription	Left Ventricle	heart
16	chr11:4010800-4015800	Weak transcription	Thymus	Thymus
17	chr11:4010800-4017200	Weak transcription	Fetal Thymus	thymus
18	chr11:4011200-4014400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:4011200-4014400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:4011400-4013200	Weak transcription	A549	lung
21	chr11:4011600-4015000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:4011800-4013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:4011800-4014000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:4011800-4014000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:4011800-4027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:4012000-4014000	Weak transcription	Primary T cells from cord blood	blood
27	chr11:4012200-4015400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:4012400-4013000	Enhancers	Fetal Stomach	stomach
29	chr11:4012600-4013000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:4012600-4013200	Weak transcription	K562	blood
31	chr11:4012800-4013800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:4012800-4013800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:4012800-4015200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:4012800-4016600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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