Variant report

Variant	rs11030394
Chromosome Location	chr11:3978724-3978725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr11:3978627-3978957	K562	blood:	n/a	n/a
2	BACH1	chr11:3978716-3979012	K562	blood:	n/a	n/a
3	YY1	chr11:3978651-3979062	K562	blood:	n/a	n/a
4	MAFF	chr11:3978688-3978986	K562	blood:	n/a	n/a
5	MAFK	chr11:3978702-3978986	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3972776..3975865-chr11:3976108..3980315,4	K562	blood:

Variant related genes	Relation type
ENSG00000255232	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10742223	0.89[AFR][1000 genomes]
rs10767807	0.89[AFR][1000 genomes]
rs10835301	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11030264	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11030536	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11030907	0.89[AFR][1000 genomes]
rs11604649	0.91[AFR][1000 genomes]
rs12419208	0.91[AFR][1000 genomes]
rs1372805	0.91[AFR][1000 genomes]
rs17193797	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2304891	0.89[AFR][1000 genomes]
rs2920139	0.91[AFR][1000 genomes]
rs2920144	0.91[AFR][1000 genomes]
rs2923944	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2923945	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2923953	0.87[AFR][1000 genomes]
rs2923956	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2958713	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2958714	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2959056	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2959065	0.83[EUR][1000 genomes]
rs2959066	0.91[AFR][1000 genomes]
rs2959077	0.82[EUR][1000 genomes]
rs2959079	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2959081	0.84[EUR][1000 genomes]
rs34662040	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910863	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910864	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61188043	0.87[AFR][1000 genomes]
rs7102508	0.89[AFR][1000 genomes]
rs7116520	0.89[AFR][1000 genomes]
rs747883	0.91[AFR][1000 genomes]
rs7938196	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7945639	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11030394	RRM1	cis	Artery Tibial	GTEx
rs11030394	RRM1	cis	Nerve Tibial	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3968200-3980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:3969000-3980400	Weak transcription	NHLF	lung
4	chr11:3969400-3980000	Weak transcription	Liver	Liver
5	chr11:3970800-3988600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:3971400-3988400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:3972800-3979400	Weak transcription	HepG2	liver
8	chr11:3972800-3979600	Weak transcription	A549	lung
9	chr11:3972800-3988800	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:3973000-3988600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:3973200-3981000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:3973200-3982400	Weak transcription	Primary B cells from cord blood	blood
13	chr11:3973200-3984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:3973200-3993200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
16	chr11:3973600-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:3973800-3979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:3974200-3982200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:3974400-3980400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:3974400-3983400	Weak transcription	Small Intestine	intestine
21	chr11:3974800-3979600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:3974800-3988200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:3974800-3988800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
25	chr11:3975400-3979800	Weak transcription	Psoas Muscle	Psoas
26	chr11:3975600-3988600	Weak transcription	Dnd41	blood
27	chr11:3975600-3988800	Weak transcription	Aorta	Aorta
28	chr11:3975800-3979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:3975800-3984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:3975800-3988800	Weak transcription	Esophagus	oesophagus
31	chr11:3976000-3980400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:3976200-3978800	Weak transcription	Thymus	Thymus
33	chr11:3976200-3979400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:3976200-3979600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:3976200-3979600	Weak transcription	Osteobl	bone
36	chr11:3976200-3980200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:3976200-3980200	Enhancers	K562	blood
38	chr11:3976400-3979600	Weak transcription	NHDF-Ad	bronchial
39	chr11:3976600-3979400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:3976600-3979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:3977000-3979000	Weak transcription	Placenta	Placenta
42	chr11:3977000-3979600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:3977200-3982200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:3977400-3978800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr11:3977400-3979400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:3977400-3979600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:3977400-3980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:3977400-3983000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:3977400-3985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:3977400-3988600	Weak transcription	Primary B cells from peripheral blood	blood

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