Variant report

Variant	rs11030224
Chromosome Location	chr11:3929164-3929165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3892544..3895447-chr11:3927385..3929992,2	K562	blood:
2	chr11:3921286..3923395-chr11:3927925..3930069,2	K562	blood:
3	chr11:3895497..3897326-chr11:3928476..3930571,2	K562	blood:
4	chr11:3921286..3923795-chr11:3928569..3931190,3	K562	blood:
5	chr11:3924387..3926675-chr11:3928971..3931483,2	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10742189	0.92[YRI][hapmap]
rs10835301	0.92[EUR][1000 genomes]
rs11030264	0.93[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs12286851	0.83[AFR][1000 genomes]
rs17193797	0.92[EUR][1000 genomes]
rs2923944	0.89[CEU][hapmap]
rs2923945	0.84[CEU][hapmap]
rs2923956	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs2958713	0.86[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes]
rs2958714	0.89[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs2959056	0.85[CEU][hapmap]
rs2959081	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs34662040	0.91[EUR][1000 genomes]
rs4910863	0.93[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.92[EUR][1000 genomes]
rs4910864	0.90[EUR][1000 genomes]
rs7938196	0.90[EUR][1000 genomes]
rs7945639	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3916600-3943800	Weak transcription	Fetal Stomach	stomach
2	chr11:3916600-3948800	Weak transcription	Aorta	Aorta
3	chr11:3921400-3929400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:3921400-3929400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr11:3921400-3929600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr11:3921400-3929600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:3921400-3930600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:3921600-3929600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:3921800-3929200	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:3921800-3929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:3921800-3929400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr11:3921800-3929400	Enhancers	K562	blood
13	chr11:3922000-3929200	Enhancers	Primary T cells from cord blood	blood
14	chr11:3922000-3929400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:3922600-3929200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:3922600-3929400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:3923000-3929400	Enhancers	Liver	Liver
18	chr11:3924000-3950600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:3924200-3934400	Weak transcription	Gastric	stomach
20	chr11:3924800-3929400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:3924800-3938200	Weak transcription	Pancreas	Pancrea
22	chr11:3925200-3929200	Enhancers	Primary B cells from cord blood	blood
23	chr11:3925400-3929200	Enhancers	Colon Smooth Muscle	Colon
24	chr11:3925800-3941000	Weak transcription	Right Ventricle	heart
25	chr11:3926200-3930400	Enhancers	HMEC	breast
26	chr11:3926600-3929600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:3926600-3930400	Enhancers	NHEK	skin
28	chr11:3926600-3938400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:3926600-3941000	Weak transcription	Small Intestine	intestine
30	chr11:3926800-3937000	Weak transcription	Lung	lung
31	chr11:3927000-3930400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:3927200-3929200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:3927200-3931000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:3927200-3933200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:3927200-3936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:3927200-3942600	Weak transcription	Spleen	Spleen
37	chr11:3927400-3929200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:3927400-3930200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:3927400-3941200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:3927600-3929200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:3927600-3929400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:3927600-3930400	Enhancers	HepG2	liver
43	chr11:3927600-3943600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:3927800-3929400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:3928000-3929200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:3928000-3929400	Enhancers	Thymus	Thymus
47	chr11:3928000-3929400	Enhancers	Dnd41	blood
48	chr11:3928000-3930800	Enhancers	Fetal Thymus	thymus
49	chr11:3928200-3929400	Enhancers	GM12878-XiMat	blood
50	chr11:3928200-3930400	Enhancers	Skeletal Muscle Male	skeletal muscle

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