Variant report

Variant	rs2959065
Chromosome Location	chr11:4042551-4042552
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	chr11:4040603..4045299-chr11:4047436..4050461,5	K562	blood:
2	chr11:4040603..4042840-chr11:4047485..4050461,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11030264	0.84[AFR][1000 genomes]
rs11030394	0.83[EUR][1000 genomes]
rs11030536	0.87[EUR][1000 genomes]
rs11030842	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11604649	0.82[AMR][1000 genomes]
rs12419208	0.81[AMR][1000 genomes]
rs1372804	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1372805	0.82[AMR][1000 genomes]
rs2920139	0.83[AMR][1000 genomes]
rs2920144	0.88[AMR][1000 genomes]
rs2923944	0.84[EUR][1000 genomes]
rs2923945	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2923953	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2923956	0.81[EUR][1000 genomes]
rs2958713	0.84[EUR][1000 genomes]
rs2958714	0.82[EUR][1000 genomes]
rs2959056	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2959070	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2959075	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2959077	0.82[EUR][1000 genomes]
rs2959079	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2959081	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4910864	0.84[AFR][1000 genomes]
rs7102508	0.84[AMR][1000 genomes]
rs7116520	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2959065	RRM1	cis	Nerve Tibial	GTEx
rs2959065	RRM1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4017600-4043400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:4020800-4045000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:4021000-4043600	Weak transcription	Thymus	Thymus
4	chr11:4021000-4044200	Weak transcription	Fetal Thymus	thymus
5	chr11:4021000-4044400	Weak transcription	Dnd41	blood
6	chr11:4028800-4043400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:4030200-4044800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:4037200-4045000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:4038000-4044400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:4038000-4049400	Weak transcription	Spleen	Spleen
11	chr11:4038200-4044000	Weak transcription	GM12878-XiMat	blood
12	chr11:4038200-4048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:4038200-4057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:4038200-4065200	Weak transcription	Left Ventricle	heart
15	chr11:4038400-4044000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:4038400-4045000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:4038400-4045000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:4038400-4045400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:4038400-4045400	Weak transcription	Psoas Muscle	Psoas
20	chr11:4038400-4065400	Weak transcription	Esophagus	oesophagus
21	chr11:4038600-4044000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:4038800-4044400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:4038800-4045000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:4038800-4045000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:4038800-4050000	Weak transcription	K562	blood
26	chr11:4039200-4043600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:4039200-4045000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:4039200-4056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:4040200-4045000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:4040200-4045000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:4040200-4046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:4040200-4049600	Weak transcription	A549	lung
33	chr11:4040400-4045600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:4040400-4046200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:4040800-4045000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:4041000-4046600	Weak transcription	NHEK	skin
37	chr11:4041200-4046000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:4041400-4046200	Weak transcription	NHDF-Ad	bronchial
39	chr11:4041600-4042600	Enhancers	Placenta	Placenta
40	chr11:4041600-4045400	Weak transcription	Fetal Stomach	stomach
41	chr11:4041600-4046000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:4041600-4046800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:4041800-4054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:4042000-4045000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:4042000-4046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:4042000-4046000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:4042200-4043800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:4042200-4044000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:4042400-4044400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:4042400-4044800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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