Variant report

Variant	rs58006230
Chromosome Location	chr11:72608300-72608301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72606717..72608560-chr11:72608981..72610610,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1783576	1.00[EUR][1000 genomes]
rs1785213	1.00[EUR][1000 genomes]
rs341056	1.00[EUR][1000 genomes]
rs4944643	1.00[EUR][1000 genomes]
rs573529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs660043	1.00[AFR][1000 genomes]
rs7105776	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
2	nsv975362	chr11:72598491-72611417	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72567200-72612200	Weak transcription	Small Intestine	intestine
4	chr11:72577200-72651600	Weak transcription	Gastric	stomach
5	chr11:72581200-72609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
8	chr11:72593200-72615000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
10	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:72594800-72613800	Weak transcription	Colonic Mucosa	Colon
12	chr11:72597200-72612200	Weak transcription	Aorta	Aorta
13	chr11:72597200-72634200	Weak transcription	NHLF	lung
14	chr11:72597600-72609400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:72597600-72617600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:72597800-72614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:72599200-72613200	Weak transcription	Fetal Brain Female	brain
18	chr11:72599200-72614800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:72599200-72614800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:72599400-72613400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:72599400-72632400	Weak transcription	HUVEC	blood vessel
22	chr11:72599800-72614800	Weak transcription	Brain Germinal Matrix	brain
23	chr11:72600800-72615000	Weak transcription	Fetal Intestine Large	intestine
24	chr11:72600800-72623600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:72600800-72632600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:72600800-72653200	Weak transcription	Lung	lung
27	chr11:72601000-72608600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:72601000-72611600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:72601000-72612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:72601000-72614400	Weak transcription	Fetal Stomach	stomach
31	chr11:72601000-72614800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:72601000-72620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:72601000-72624000	Weak transcription	Thymus	Thymus
34	chr11:72601000-72636800	Weak transcription	Spleen	Spleen
35	chr11:72601000-72641200	Weak transcription	HSMMtube	muscle
36	chr11:72601200-72611400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:72601200-72612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:72601200-72614000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:72601200-72614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:72601200-72615200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:72601200-72616400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:72601200-72616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:72601200-72617400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:72601200-72617600	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:72601200-72617600	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:72601200-72617800	Weak transcription	Fetal Lung	lung
47	chr11:72601200-72619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:72601200-72622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:72601200-72623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:72601200-72623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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