Variant report

Variant	rs73417174
Chromosome Location	chr11:4112410-4112411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4102803..4104604-chr11:4111954..4114316,2	K562	blood:
2	chr11:3830403..3832693-chr11:4111742..4114186,3	K562	blood:
3	chr11:4109002..4112620-chr11:4113600..4116906,4	MCF-7	breast:
4	chr11:3880710..3882363-chr11:4111617..4114224,2	K562	blood:
5	chr11:4104830..4107484-chr11:4111257..4112861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148985	Chromatin interaction
ENSG00000167325	Chromatin interaction
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16929551	1.00[AMR][1000 genomes]
rs16929583	1.00[AMR][1000 genomes]
rs35960304	1.00[AMR][1000 genomes]
rs56724828	1.00[AMR][1000 genomes]
rs57599213	1.00[AMR][1000 genomes]
rs57719656	1.00[AMR][1000 genomes]
rs58288151	1.00[AMR][1000 genomes]
rs58677531	1.00[AMR][1000 genomes]
rs59787805	1.00[AMR][1000 genomes]
rs59984032	1.00[AMR][1000 genomes]
rs60473343	1.00[AMR][1000 genomes]
rs73417145	1.00[AMR][1000 genomes]
rs73417150	1.00[AMR][1000 genomes]
rs73425486	1.00[AMR][1000 genomes]
rs73425494	1.00[AMR][1000 genomes]
rs73427517	1.00[AMR][1000 genomes]
rs73427519	1.00[AMR][1000 genomes]
rs73427520	1.00[AMR][1000 genomes]
rs73427524	1.00[AMR][1000 genomes]
rs73427545	1.00[AMR][1000 genomes]
rs73427556	1.00[AMR][1000 genomes]
rs73427561	1.00[AMR][1000 genomes]
rs73427572	1.00[AMR][1000 genomes]
rs73429609	1.00[AMR][1000 genomes]
rs73429612	1.00[AMR][1000 genomes]
rs73429626	1.00[AMR][1000 genomes]
rs73429638	1.00[AMR][1000 genomes]
rs73431611	1.00[AMR][1000 genomes]
rs73431633	1.00[AMR][1000 genomes]
rs73431657	1.00[AMR][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	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
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
2	chr11:4086200-4115200	Weak transcription	NHDF-Ad	bronchial
3	chr11:4087600-4115000	Weak transcription	HSMMtube	muscle
4	chr11:4093600-4112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:4093800-4115000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:4093800-4115200	Weak transcription	Fetal Kidney	kidney
7	chr11:4094000-4115000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:4094000-4115000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:4094000-4115200	Weak transcription	Brain Substantia Nigra	brain
10	chr11:4098200-4115000	Weak transcription	Hela-S3	cervix
11	chr11:4100200-4115200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:4100600-4115200	Weak transcription	NHLF	lung
13	chr11:4101400-4112800	Strong transcription	Thymus	Thymus
14	chr11:4101400-4113600	Strong transcription	Primary B cells from cord blood	blood
15	chr11:4101400-4114000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:4101400-4114200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr11:4101600-4113200	Strong transcription	Dnd41	blood
18	chr11:4101600-4113800	Strong transcription	Adipose Nuclei	Adipose
19	chr11:4101800-4113400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:4101800-4114000	Strong transcription	Fetal Stomach	stomach
21	chr11:4102000-4113200	Strong transcription	Liver	Liver
22	chr11:4102200-4114000	Strong transcription	Spleen	Spleen
23	chr11:4102400-4113400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:4102400-4115200	Weak transcription	Fetal Brain Male	brain
25	chr11:4103000-4115200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:4103200-4115200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:4103400-4112800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:4103400-4114000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:4104200-4113800	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:4104800-4112600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:4105800-4115200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:4106200-4114200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:4106600-4115400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:4107200-4112600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:4107400-4112800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr11:4107600-4113000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr11:4107600-4113200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:4108200-4112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:4108200-4115000	Weak transcription	NHEK	skin
40	chr11:4108200-4115200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:4108200-4115200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:4108200-4115400	Weak transcription	Small Intestine	intestine
43	chr11:4108400-4112600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:4108400-4112600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:4108400-4114800	Weak transcription	Pancreas	Pancrea
46	chr11:4108400-4115000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:4108400-4115200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:4108400-4115200	Weak transcription	Brain Anterior Caudate	brain
49	chr11:4108600-4112600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:4108600-4115000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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