Variant report

Variant	rs750525
Chromosome Location	chr11:3948894-3948895
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	chr11:3941075..3946343-chr11:3946471..3949436,5	K562	blood:
2	chr11:3948392..3949376-chr11:4093449..4094397,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206976	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1013351	0.81[EUR][1000 genomes]
rs10500590	0.81[TSI][hapmap]
rs10742200	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10767702	0.82[EUR][1000 genomes]
rs10767706	0.82[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap]
rs10767713	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10767715	0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs10767720	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10767721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767723	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835291	0.81[ASN][1000 genomes]
rs10835311	0.82[EUR][1000 genomes]
rs10835312	0.80[EUR][1000 genomes]
rs10835320	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835324	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835331	0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10835333	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835337	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835340	0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs10835390	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835403	0.80[TSI][hapmap]
rs10835407	0.81[TSI][hapmap]
rs10835508	0.84[YRI][hapmap]
rs10835596	0.81[TSI][hapmap]
rs11030276	0.82[EUR][1000 genomes]
rs11030404	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11030639	0.81[TSI][hapmap]
rs11030781	0.81[TSI][hapmap]
rs1155146	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11828337	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12270732	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290747	0.82[EUR][1000 genomes]
rs1349583	0.81[TSI][hapmap]
rs1452047	0.81[TSI][hapmap]
rs1452048	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17081	0.81[TSI][hapmap]
rs17279635	0.81[TSI][hapmap]
rs1839910	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412338	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910865	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910866	0.82[EUR][1000 genomes]
rs4910869	0.81[TSI][hapmap]
rs6578421	0.80[YRI][hapmap]
rs6578424	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66596383	0.80[EUR][1000 genomes]
rs67300156	0.81[EUR][1000 genomes]
rs7102215	0.82[EUR][1000 genomes]
rs7113845	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7120938	0.82[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap]
rs7128762	0.82[EUR][1000 genomes]
rs7924984	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7925954	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7950153	0.90[LWK][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs963998	0.81[TSI][hapmap]
rs995498	0.81[TSI][hapmap]

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	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv896895	chr11:3942001-3972236	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs750525	RRM1	cis	Artery Tibial	GTEx
rs750525	RRM1	cis	cerebellum	SCAN
rs750525	CD81	cis	parietal	SCAN
rs750525	STIM1	cis	lung	GTEx
rs750525	IFITM5	cis	cerebellum	SCAN
rs750525	RRM1	cis	Thyroid	GTEx
rs750525	IFITM3	cis	parietal	SCAN
rs750525	RRM1	cis	parietal	SCAN
rs750525	OR51E2	cis	cerebellum	SCAN
rs750525	OR51A4	cis	parietal	SCAN
rs750525	TRIM21	cis	cerebellum	SCAN
rs750525	ANO9	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3924000-3950600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:3929400-3950600	Weak transcription	Ovary	ovary
3	chr11:3934800-3951000	Weak transcription	Gastric	stomach
4	chr11:3937800-3950600	Weak transcription	Lung	lung
5	chr11:3938400-3956400	Weak transcription	Dnd41	blood
6	chr11:3938600-3949800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:3939000-3950200	Weak transcription	Left Ventricle	heart
8	chr11:3939000-3950200	Weak transcription	Pancreas	Pancrea
9	chr11:3939000-3956000	Weak transcription	Esophagus	oesophagus
10	chr11:3939600-3950000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:3939600-3950200	Weak transcription	Fetal Thymus	thymus
12	chr11:3941600-3950600	Weak transcription	Stomach Mucosa	stomach
13	chr11:3941600-3951000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:3942000-3950200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:3942000-3950400	Weak transcription	K562	blood
16	chr11:3942000-3950800	Weak transcription	Small Intestine	intestine
17	chr11:3942200-3951000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:3943200-3949800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:3943200-3950400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:3943400-3949800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:3943400-3954800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:3943800-3953200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:3944000-3950400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:3944000-3950800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:3947200-3952200	Enhancers	Liver	Liver
26	chr11:3947400-3949200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:3947400-3949200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:3947400-3949200	Enhancers	Psoas Muscle	Psoas
29	chr11:3947400-3949400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:3947600-3950000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:3947800-3949000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:3947800-3949000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr11:3947800-3949000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:3947800-3949000	Enhancers	A549	lung
35	chr11:3947800-3949200	Enhancers	HepG2	liver
36	chr11:3947800-3949400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:3947800-3949400	Enhancers	Fetal Lung	lung
38	chr11:3947800-3949400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:3947800-3949600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:3947800-3950200	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:3947800-3950800	Weak transcription	HSMM	muscle
42	chr11:3948000-3949000	Enhancers	Primary T cells from cord blood	blood
43	chr11:3948000-3949000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:3948000-3949000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:3948000-3949200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:3948000-3949800	Enhancers	Primary B cells from cord blood	blood
47	chr11:3948000-3950400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:3948000-3951400	Enhancers	Fetal Stomach	stomach
49	chr11:3948000-3952200	Enhancers	Fetal Muscle Leg	muscle
50	chr11:3948200-3955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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