Variant report

Variant	rs16929551
Chromosome Location	chr11:3994063-3994064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3991210..3994913-chr11:3996027..3998429,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11030478	0.87[YRI][hapmap]
rs11030481	0.89[YRI][hapmap]
rs11030484	0.89[YRI][hapmap]
rs11030485	0.89[YRI][hapmap]
rs11030486	0.89[YRI][hapmap]
rs1349583	1.00[LWK][hapmap];0.89[YRI][hapmap]
rs16929438	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs16929529	0.89[YRI][hapmap]
rs16929531	0.89[YRI][hapmap]
rs16929538	0.89[YRI][hapmap]
rs16929540	0.89[YRI][hapmap]
rs16929542	0.89[YRI][hapmap]
rs16929546	0.89[YRI][hapmap]
rs16929583	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35960304	1.00[AMR][1000 genomes]
rs4910877	0.89[YRI][hapmap]
rs55679086	0.91[AFR][1000 genomes]
rs56724828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57599213	1.00[AMR][1000 genomes]
rs57719656	1.00[AMR][1000 genomes]
rs58288151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58677531	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59787805	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59984032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60473343	1.00[AMR][1000 genomes]
rs73417145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417150	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417174	1.00[AMR][1000 genomes]
rs73425486	1.00[AMR][1000 genomes]
rs73425494	1.00[AMR][1000 genomes]
rs73427517	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427519	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427520	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427545	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73427556	1.00[AMR][1000 genomes]
rs73427561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73427572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73429609	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429612	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73429634	1.00[EUR][1000 genomes]
rs73429638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73431611	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431633	1.00[AMR][1000 genomes]
rs73431654	1.00[EUR][1000 genomes]
rs73431655	1.00[EUR][1000 genomes]
rs73431657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73431662	1.00[EUR][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	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
2	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
3	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
4	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
5	nsv971973	chr11:3992858-3995856	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 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	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
3	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
4	chr11:3980600-3994200	Weak transcription	Fetal Stomach	stomach
5	chr11:3982400-3994200	Weak transcription	Brain Anterior Caudate	brain
6	chr11:3982600-3994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:3982600-4004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:3982600-4005600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:3982600-4006000	Weak transcription	Left Ventricle	heart
10	chr11:3984000-4010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:3985000-4002400	Weak transcription	NHDF-Ad	bronchial
12	chr11:3985800-4001200	Weak transcription	Small Intestine	intestine
13	chr11:3986000-4008000	Weak transcription	HepG2	liver
14	chr11:3987000-4010400	Weak transcription	Fetal Intestine Small	intestine
15	chr11:3987200-4001600	Weak transcription	Gastric	stomach
16	chr11:3988000-4002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:3988200-4006200	Weak transcription	Pancreas	Pancrea
18	chr11:3989400-3997600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:3989400-4010600	Weak transcription	Spleen	Spleen
20	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
21	chr11:3989800-4002400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:3989800-4006000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:3989800-4006200	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:3989800-4006600	Weak transcription	Liver	Liver
25	chr11:3990000-4002000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:3990400-3996600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:3990400-4006000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:3990600-3996600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:3990600-4000600	Weak transcription	Primary B cells from cord blood	blood
30	chr11:3990800-3994200	Weak transcription	Esophagus	oesophagus
31	chr11:3991200-4000800	Weak transcription	Ovary	ovary
32	chr11:3991200-4002400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:3991200-4004400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:3991200-4006200	Weak transcription	Adipose Nuclei	Adipose
35	chr11:3991400-4003000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:3991600-3996000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:3991600-4000000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:3991600-4000400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:3991600-4002800	Weak transcription	Dnd41	blood
40	chr11:3991600-4003800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:3991600-4004400	Weak transcription	GM12878-XiMat	blood
42	chr11:3991800-3999000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:3991800-4000000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:3992800-3994400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:3992800-3994600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:3992800-3998200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:3993000-3994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:3993000-3995400	Weak transcription	Psoas Muscle	Psoas
49	chr11:3993000-3995800	Weak transcription	K562	blood
50	chr11:3993200-3994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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