Variant report

Variant	rs12799265
Chromosome Location	chr11:4068800-4068801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10742223	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10767807	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11030853	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11030907	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11604649	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12364664	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12419208	0.82[ASN][1000 genomes]
rs12803023	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1372805	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2304891	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2412344	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2920139	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2920143	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2920144	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2920145	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2923953	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959066	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2959068	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959070	0.81[AMR][1000 genomes]
rs2959074	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102508	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110060	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7116520	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124301	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs747883	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9704047	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12799265	RRM1	cis	Artery Tibial	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4047800-4077400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:4048000-4077600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:4048600-4077800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:4049600-4070600	Weak transcription	Thymus	Thymus
5	chr11:4050200-4070800	Weak transcription	Fetal Thymus	thymus
6	chr11:4051000-4080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:4051200-4070200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:4057400-4076800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:4058200-4070800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:4058800-4070800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:4059200-4076800	Weak transcription	GM12878-XiMat	blood
12	chr11:4062000-4080400	Weak transcription	Spleen	Spleen
13	chr11:4062200-4070000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:4062200-4070400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:4062200-4070800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:4062200-4076600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:4062600-4070800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:4062800-4076200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:4063000-4068800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:4063200-4070800	Weak transcription	Aorta	Aorta
21	chr11:4063600-4076400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:4064800-4070600	Weak transcription	Dnd41	blood
23	chr11:4066000-4079200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:4066200-4076600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:4066200-4078400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:4066200-4079000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:4066200-4079200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:4066400-4072800	Weak transcription	Lung	lung
30	chr11:4066400-4076800	Weak transcription	Fetal Stomach	stomach
31	chr11:4066400-4077400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:4066400-4077400	Weak transcription	Esophagus	oesophagus
33	chr11:4066400-4077600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
35	chr11:4066600-4070600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:4066600-4070800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:4066600-4075600	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:4066600-4075800	Weak transcription	Primary B cells from cord blood	blood
39	chr11:4066600-4076600	Weak transcription	Adipose Nuclei	Adipose
40	chr11:4066600-4076800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:4066600-4076800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:4066600-4077600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:4066600-4077600	Weak transcription	Left Ventricle	heart
44	chr11:4066600-4078400	Weak transcription	NHDF-Ad	bronchial
45	chr11:4066600-4078600	Weak transcription	K562	blood
46	chr11:4066600-4078600	Weak transcription	Osteobl	bone
47	chr11:4066600-4080200	Weak transcription	Right Ventricle	heart
48	chr11:4066600-4080400	Weak transcription	Fetal Lung	lung
49	chr11:4066600-4080400	Weak transcription	Gastric	stomach
50	chr11:4066600-4085800	Weak transcription	Pancreas	Pancrea

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