Variant report

Variant	rs73417150
Chromosome Location	chr11:4102171-4102172
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3862793..3864567-chr11:4100746..4102871,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16929438	0.88[AFR][1000 genomes]
rs16929551	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929583	1.00[AMR][1000 genomes]
rs35960304	1.00[AMR][1000 genomes]
rs56724828	0.88[AFR][1000 genomes];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	1.00[AMR][1000 genomes]
rs59787805	1.00[AMR][1000 genomes]
rs59984032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60473343	1.00[AMR][1000 genomes]
rs61897254	0.85[AFR][1000 genomes]
rs73417145	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	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];1.00[EUR][1000 genomes]
rs73427556	1.00[AMR][1000 genomes]
rs73427561	0.81[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	1.00[AMR][1000 genomes]
rs73429612	0.82[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	0.95[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	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
3	chr11:4070800-4108600	Weak transcription	HSMM	muscle
4	chr11:4076200-4103000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
6	chr11:4081000-4104600	Weak transcription	Colonic Mucosa	Colon
7	chr11:4082600-4107400	Weak transcription	Stomach Mucosa	stomach
8	chr11:4082800-4103400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:4083200-4102200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:4086200-4102600	Weak transcription	Pancreas	Pancrea
11	chr11:4086200-4115200	Weak transcription	NHDF-Ad	bronchial
12	chr11:4087200-4102400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:4087600-4102400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:4087600-4115000	Weak transcription	HSMMtube	muscle
15	chr11:4087800-4107800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:4088600-4107800	Weak transcription	Right Ventricle	heart
17	chr11:4090400-4102800	Weak transcription	Gastric	stomach
18	chr11:4091600-4102800	Weak transcription	Left Ventricle	heart
19	chr11:4091600-4107600	Weak transcription	Psoas Muscle	Psoas
20	chr11:4093400-4102800	Weak transcription	Placenta	Placenta
21	chr11:4093600-4112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:4093800-4102400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:4093800-4102600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:4093800-4103800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:4093800-4104000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:4093800-4115000	Weak transcription	Brain Germinal Matrix	brain
27	chr11:4093800-4115200	Weak transcription	Fetal Kidney	kidney
28	chr11:4094000-4102200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:4094000-4102400	Weak transcription	Brain Anterior Caudate	brain
30	chr11:4094000-4103000	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:4094000-4103000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:4094000-4103800	Weak transcription	Fetal Lung	lung
33	chr11:4094000-4106200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:4094000-4107800	Weak transcription	Brain Angular Gyrus	brain
35	chr11:4094000-4108600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:4094000-4108600	Weak transcription	Osteobl	bone
37	chr11:4094000-4115000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:4094000-4115000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:4094000-4115200	Weak transcription	Brain Substantia Nigra	brain
40	chr11:4094400-4103200	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:4094600-4102600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:4095800-4102600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:4095800-4109400	Weak transcription	K562	blood
44	chr11:4096000-4102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:4096000-4102200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:4096000-4102200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:4096000-4102200	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:4096000-4102200	Weak transcription	Spleen	Spleen
49	chr11:4096000-4102400	Weak transcription	Ovary	ovary
50	chr11:4096000-4102400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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